부산대학교 도서관

Milojković M; Jarić M; Stojanović V; Barišić N; Kavečan I

Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 73-76 (2024)

Sologub O; Institute of Solid State Physics, TU Wien, A-1040 Vienna, Austria. oksana.sologub@univie.ac.at.; Salamakha LP; Institute of Solid State Physics, TU Wien, A-1040 Vienna, Austria. oksana.sologub@univie.ac.at.; Department of Physics of Metals, Faculty of Physics, I. Franko L'viv National University, 79005, L'viv, Ukraine.; Stöger B; X-Ray Centre, TU Wien, A-1060 Vienna, Austria.; Mori T; National Institute for Materials Science (NIMS), Research Center for Materials Nanoarchitectonics (MANA), Tsukuba, Japan.; Barisic N; Institute of Solid State Physics, TU Wien, A-1040 Vienna, Austria. oksana.sologub@univie.ac.at.; Department of Physics, Faculty of Science, University of Zagreb, Croatia.; Rogl PF; Institute of Materials Chemistry, University of Vienna, A-1090 Vienna, Austria.; Michor H; Institute of Solid State Physics, TU Wien, A-1040 Vienna, Austria. oksana.sologub@univie.ac.at.; Bauer E; Institute of Solid State Physics, TU Wien, A-1040 Vienna, Austria. oksana.sologub@univie.ac.at.

Publisher: Royal Society of Chemistry Country of Publication: England NLM ID: 101176026 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9234 (Electronic) Linking ISSN: 14779226 NLM ISO Abbreviation: Dalton Trans Subsets: MEDLINE

Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Tesson C; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.; Angelova PR; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Salazar-Villacorta A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Rodriguez JA; Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA.; Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Chung BH; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Hong Kong Genome Institute, Hong Kong SAR, China.; Jaconelli M; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.; Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany.; Esteras N; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neurochemistry Research Institute, Department of Biochemistry and Molecular Biology, School of Medicine, Complutense University of Madrid, Madrid, Spain.; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.; Kwong AK; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Courtin T; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Alavi S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Nirujogi R; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Lewis PA; Royal Veterinary College, London, United Kingdom.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; O'Callaghan B; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Sofan L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Lis P; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.; Pinon C; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.; Breedveld GJ; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.; Chui MM; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Pitz V; Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Makarious MB; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Cassar M; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.; Hassan BA; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.; Iftikhar S; Department of Real-World evidence studies, CENTOGENE GmbH, Rostock, Germany.; Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Bauer P; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany.; Tinazzi M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; Svetel M; Movement Disorders Department, Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.; Samanci B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Hanağası HA; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Bilgiç B; Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Obeso JA; CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, Madrid, Spain.; HM CINAC, Hospital Universitario HM Puerta del Sur, HM Hospitales, Madrid, Spain.; University CEU-San Pablo, Madrid, Spain.; Kurtis MM; Neurology Department, Hospital Ruber Internacional, Madrid, Spain.; Cogan G; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.; Başak AN; Koç University, School of Medicine, Research Center for Translational Medicine KUTTAM-Neurodegeneration Research Laboratory NDAL, Istanbul, Turkey.; Kiziltan G; Department of Neurology, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.; Gül T; Koç University, School of Medicine, Research Center for Translational Medicine KUTTAM-Neurodegeneration Research Laboratory NDAL, Istanbul, Turkey.; Yalçın G; Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey.; Elibol B; Department of Neurology, School of Medicine, Hacettepe University, Ankara, Turkey.; Barišić N; Department of Pediatrics, University of Zagreb Medical School and University Hospital Center Zagreb, Zagreb, Croatia.; Ng EW; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Fan SS; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Hershkovitz T; The Genetics Institute, Galilee Medical Center, Nahariya, Israel.; Weiss K; Genetics Institute, Rambam Health Care Center, Haifa, Israel.; Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel.; Raza Alvi J; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan.; Sultan T; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan.; Azmi Alkhawaja I; Pediatric Neurology Unit, Pediatric Department, Albashir Hospital, Amman, Jordan.; Froukh T; Department of Biotechnology and Genetics Engineering, Philadelphia University, Jordan.; E Alrukban HA; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Fauth C; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Schatz UA; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Zöggeler T; Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria.; Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.; Varghese V; All Wales Medical Genomics Service, Cardiff, United Kingdom.; Gandhi S; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; The Francis Crick Institute, London, United Kingdom.; Blauwendraat C; Integrative Neurogenomics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Center for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Hardy JA; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Lesage S; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.; Bonifati V; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Munich, Germany.; Bertoli-Avella AM; Department of Medical Genetics, CENTOGENE GmbH, Rostock, Germany.; Steinfeld R; Department of Pediatrics and Pediatric Neurology, University of Göttingen, Göttingen, Germany.; Department of Pediatric Neurology, Charité University Medicine, Berlin, Germany.; Alessi DR; Medical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.; Steller H; Laboratory of Apoptosis and Cancer Biology, The Rockefeller University, New York, NY, USA.; Brice A; Institut du Cerveau et de la Moelle épinière, ICM, Inserm, CNRS, Sorbonne Université, Paris, France.; Abramov AY; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Šimić G; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.; Vukić V; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.; Babić M; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.; Banović M; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.; Berečić I; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.; Španić E; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.; Zubčić K; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.; Golubić AT; Department of Nuclear Medicine and Radiation Protection, University Hospital Centre Zagreb, Zagreb, Croatia.; Barišić Kutija M; Department of Ophthalmology, University Hospital Centre Zagreb, Zagreb, Croatia.; Merkler Šorgić A; Department of Laboratory Diagnostics, Laboratory for Molecular Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.; Vogrinc Ž; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.; Lehman I; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.; Hof PR; Nash Family Department of Neuroscience, Friedman Brain Institute, and Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Sertić J; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.; Department of Medical Chemistry and Biochemistry, University of Zagreb School of Medicine, Zagreb, Croatia.; Barišić N; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101473265 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-5949 (Electronic) Linking ISSN: 17555930 NLM ISO Abbreviation: CNS Neurosci Ther Subsets: MEDLINE

Armengol VD; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Darras BT; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Abulaban AA; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Alshehri A; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Barisic N; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Ben-Omran T; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Bernert G; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Castiglioni C; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Chien YH; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Farrar MA; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Kandawasvika G; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Khadilkar S; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Mah J; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Marini-Bettolo C; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Osredkar D; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Pfeffer G; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Piazzon FB; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Pitarch Castellano I; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Quijano-Roy S; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Saito K; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Shin JH; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Vázquez-Costa JF; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Walter MC; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Wanigasinghe J; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Xiong H; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Griggs RC; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.; Roy B; Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101577149 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2163-0402 (Print) Linking ISSN: 21630402 NLM ISO Abbreviation: Neurol Clin Pract Subsets: PubMed not MEDLINE

Brunet T; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany. Electronic address: theresa.brunet@mri.tum.de.; Zott B; Department of Neuroradiolgy, TUM School of Medicine, Technical University of Munich, Munich, Germany; TUM Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Lieftüchter V; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; Lenz D; Centre for Paediatric and Adolescent Medicine, Division of Neuropaediatric and Paediatric Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Schmidt A; Institute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn, Bonn, Germany.; Peters P; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; Kopajtich R; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Zaddach M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; Zimmermann H; Institute of Neuroradiology, University Hospital, LMU Munich, Munich, Germany.; Hüning I; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.; Ballhausen D; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland.; Staufner C; Centre for Paediatric and Adolescent Medicine, Division of Neuropaediatric and Paediatric Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Bianzano A; Centre for Paediatric and Adolescent Medicine, Division of Neuropaediatric and Paediatric Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Hughes J; National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, Dublin, Ireland.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Department of Paediatric Neurology, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, High Heaton, Newcastle upon Tyne, United Kingdom.; Devlin A; Department of Paediatric Neurology, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, High Heaton, Newcastle upon Tyne, United Kingdom.; Mihaljević M; Department of Paediatrics, University Hospital Center Zagreb, Zagreb, Croatia.; Barišić N; Department of Pediatrics, Children's Hospital Srebrnjak, Zagreb, Croatia.; Rohlfs M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; Wilfling S; Center for Human Genetics Regensburg, Regensburg, Germany.; Sondheimer N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Program in Genetics and Genome Biology Program, Sick Kids Research Institute, Toronto, Ontario, Canada.; Hewson S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Trepels-Kottek S; Department of Pediatrics, Division of Neonatology, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Hasan D; Department of Neuroradiology, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Driemeyer J; Department of Pediatrics, University Medical Hospital Hamburg-Eppendorf, Hamburg, Germany.; Apitz C; Division of Pediatric Cardiology, Children's Hospital, University of Ulm, Ulm, Germany.; Krämer J; Division of Pediatric Neurology and Inborn Errors of Metabolism, Children's Hospital, University of Ulm, Ulm, Germany.; Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA.; Hakonarson H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.; Watson D; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA.; Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Prokisch H; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Meitinger T; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian-University of Munich, Munich, Germany; Comprehensive Epilepsy Center, Ludwig-Maximilian-University of Munich, Munich, Germany.; Spiegler J; Department of Pediatrics, University Hospital of Würzburg, Würzburg, Germany.; Baric I; Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.; Paolini M; Department of Radiology, University Hospital, LMU Munich, Munich, Germany.; Gerstl L; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian-University of Munich, Munich, Germany.; Wagner M; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Santos-Cottin D; Department of Physics, University of Fribourg, CH-1700 Fribourg, Switzerland.; Mohelský I; LNCMI, CNRS-UGA-UPS-INSA, 25, avenue des Martyrs, F-38042 Grenoble, France.; Wyzula J; Department of Physics, University of Fribourg, CH-1700 Fribourg, Switzerland.; LNCMI, CNRS-UGA-UPS-INSA, 25, avenue des Martyrs, F-38042 Grenoble, France.; Le Mardelé F; Department of Physics, University of Fribourg, CH-1700 Fribourg, Switzerland.; LNCMI, CNRS-UGA-UPS-INSA, 25, avenue des Martyrs, F-38042 Grenoble, France.; Kapon I; Department of Physics, University of Geneva, CH-1204 Geneva, Switzerland.; Nasrallah S; Department of Physics, University of Fribourg, CH-1700 Fribourg, Switzerland.; Institute of Solid State Physics, TU Wien, A-1040 Vienna, Austria.; Barišić N; Institute of Solid State Physics, TU Wien, A-1040 Vienna, Austria.; Department of Physics, Faculty of Science, University of Zagreb, Bijenička 32, HR-10000 Zagreb, Croatia.; Živković I; Institut de Physique, École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.; Soh JR; Institut de Physique, École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.; Guo F; Institut de Physique, École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.; Lausanne Centre for Ultrafast Science (LACUS), École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.; Rigaux K; Institut de Physique, École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.; Lausanne Centre for Ultrafast Science (LACUS), École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.; Puppin M; Institut de Physique, École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.; Lausanne Centre for Ultrafast Science (LACUS), École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.; Dil JH; Institut de Physique, École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.; Lausanne Centre for Ultrafast Science (LACUS), École Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.; Gudac B; Department of Physics, Faculty of Science, University of Zagreb, Bijenička 32, HR-10000 Zagreb, Croatia.; Rukelj Z; Department of Physics, Faculty of Science, University of Zagreb, Bijenička 32, HR-10000 Zagreb, Croatia.; Novak M; Department of Physics, Faculty of Science, University of Zagreb, Bijenička 32, HR-10000 Zagreb, Croatia.; Kuzmenko AB; Department of Physics, University of Geneva, CH-1204 Geneva, Switzerland.; Homes CC; National Synchrotron Light Source II, Brookhaven National Laboratory, Upton, New York 11973, USA.; Dietl T; International Research Centre MagTop, Institute of Physics, Polish Academy of Sciences, Aleja Lotnikow 32/46, PL-02668 Warsaw, Poland.; WPI Advanced Institute for Materials Research, Tohoku University, 2-1-1 Katahira, Aoba-ku, Sendai 980-8577, Japan.; Orlita M; LNCMI, CNRS-UGA-UPS-INSA, 25, avenue des Martyrs, F-38042 Grenoble, France.; Institute of Physics, Charles University, CZ-12116 Prague, Czech Republic.; Akrap A; Department of Physics, University of Fribourg, CH-1700 Fribourg, Switzerland.

Publisher: American Physical Society Country of Publication: United States NLM ID: 0401141 Publication Model: Print Cited Medium: Internet ISSN: 1079-7114 (Electronic) Linking ISSN: 00319007 NLM ISO Abbreviation: Phys Rev Lett Subsets: PubMed not MEDLINE; MEDLINE

Klebel-Knobloch B; Institute of Solid State Physics, TU Wien, 1040, Vienna, Austria.; Tabiś W; Institute of Solid State Physics, TU Wien, 1040, Vienna, Austria.; Faculty of Physics and Applied Computer Science, AGH University of Krakow, 30-059, Krakow, Poland.; Gala MA; Institute of Solid State Physics, TU Wien, 1040, Vienna, Austria.; Faculty of Physics and Applied Computer Science, AGH University of Krakow, 30-059, Krakow, Poland.; Barišić OS; Institute of Physics, Bijenička cesta 46, HR-10000, Zagreb, Croatia. obarisic@ifs.hr.; Sunko DK; Department of Physics, Faculty of Science, University of Zagreb, Bijenička cesta 32, HR-10000, Zagreb, Croatia. dks@phy.hr.; Barišić N; Institute of Solid State Physics, TU Wien, 1040, Vienna, Austria. nbarisic@phy.hr.; Department of Physics, Faculty of Science, University of Zagreb, Bijenička cesta 32, HR-10000, Zagreb, Croatia. nbarisic@phy.hr.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: PubMed not MEDLINE; MEDLINE

Babić M; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.; Banović M; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.; Berečić I; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.; Banić T; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.; Babić Leko M; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.; Ulamec M; Department of Pathology, University Clinical Hospital Sestre Milosrdnice Zagreb, 10000 Zagreb, Croatia.; Department of Pathology, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.; Junaković A; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.; Kopić J; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.; Sertić J; Department of Medical Chemistry and Biochemistry, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.; Barišić N; Department of Pediatrics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.; Šimić G; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

D'Onofrio G; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147, Genoa, Italy.; Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Caliskan H; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; Kokotović T; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Blazekovic A; Department for Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, Zagreb University Hospital Center, Zagreb, Croatia.; Jercic KG; Department for Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, Zagreb University Hospital Center, Zagreb, Croatia.; Department of Neurology, University Hospital Center Zagreb, University of Zagreb School of Medicine, 10000, Zagreb, Croatia.; Markovic S; Department of Pediatrics, General Hospital dr. Tomislav Bardek Koprivnica, Koprivnica, Croatia.; Zigman T; Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.; Goran K; Department of Pediatrics, Varazdin General Hospital, Varazdin, Croatia.; Barišić N; Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.; Duranovic V; Division of Neuropediatrics, Department of Pediatrics, Children's Hospital Zagre, Zagreb, Croatia.; Ban A; Division of Neuropediatrics, Department of Pediatrics, Children's Hospital Zagre, Zagreb, Croatia.; Borovecki F; Department for Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, Zagreb University Hospital Center, Zagreb, Croatia.; Department of Neurology, University Hospital Center Zagreb, University of Zagreb School of Medicine, 10000, Zagreb, Croatia.; Ramadža DP; Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.; Barić I; Department of Paediatrics, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.; Fazeli W; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany.; Herkenrath P; Department of Pediatric Neurology, University Hospital Bonn, Bonn, Germany.; Marini C; Child Neurology and Psychiatry Unit Children's Hospital 'G. Salesi' Azienda Ospedaliero-Universitaria delle Marche Ancona, Ancona, Italy.; Vittorini R; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy.; Gowda V; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Rocca C; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; Alkhawaja IA; Pediatric Neurology Unit, Pediatric Department, Albashir Hospital, Amman, Jordan.; Murtaza BN; Department of Zoology, Abbottabad University of Science and Technology, Abbottabad, Pakistan.; Rehman MMU; Department of Microbiology, Abbottabad University of Science and Technology KP, Abbottabad, Pakistan.; Al Alam C; Division of Pediatric Neurology, Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon.; Nader G; Division of Pediatric Neurology, Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon.; Mancardi MM; Unit of Child Neuropsychiatry, Department of Clinical and Surgical Neuroscience and Rehabilitation, Epilepsy Center, EPICARE Reference Network, IRCCS Giannina Gaslini, Genoa, Italy.; Giacomini T; Unit of Child Neuropsychiatry, Department of Clinical and Surgical Neuroscience and Rehabilitation, Epilepsy Center, EPICARE Reference Network, IRCCS Giannina Gaslini, Genoa, Italy.; Srivastava S; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan.; Tomoum H; Department of Pediatrics, Ain Shams University, Cairo, Egypt.; Matricardi S; Department of Pediatrics, University of Chieti, Chieti, Italy.; Iacomino M; Unit of Medical Genetics-IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Riva A; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147, Genoa, Italy.; Scala M; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147, Genoa, Italy.; Madia F; Unit of Medical Genetics-IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Pistorio A; Epidemiology and Biostatistics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Salpietro V; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Minetti C; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147, Genoa, Italy.; Rivière JB; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, H3A 1B1, Canada.; Bioinformatics Platform, Research Institute of the McGill University Health Centre, Montréal, QC, H4A 3J1, Canada.; Srour M; Research Institute, McGill University Health Centre, Montreal, QC, Canada.; Division of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC, Canada.; Efthymiou S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Maroofian R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Houlden H; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Vernes SC; School of Biology, The University of St Andrews, Fife, UK.; Neurogenetics of Vocal Communication, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Zara F; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147, Genoa, Italy.; Department of Pediatrics, University of Chieti, Chieti, Italy.; Striano P; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Via Gerolamo Gaslini 5, 16147, Genoa, Italy. strianop@gmail.com.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Via Gerolamo Gaslini 5, 16147, Genoa, Italy. strianop@gmail.com.; Nagy V; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria. vnagy@cemm.oeaw.ac.at.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria. vnagy@cemm.oeaw.ac.at.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE