부산대학교 도서관

Pablo Iruzubieta; César Augusto Pinheiro Ferreira Alves; Aisha M. Al Shamsi; Gehad ElGhazali; Maha S. Zaki; Lorenzo Pinelli; Diego Lopergolo; Bernard P.H. Cho; Amy A. Jolly; Amna Al Futaisi; Fatema Al-Amrani; Jessica Galli; Elisa Fazzi; Katarina Vulin; Francisco Barajas-Olmos; Holger Hengel; Bayan Mohammed Aljamal; Vahideh Nasr; Farhad Assarzadegan; Michele Ragno; Luigi Trojano; Naomi Meave Ojeda; Arman Çakar; Silvia Bianchi; Francesca Pescini; Anna Poggesi; Amal Al Tenalji; Majid Aziz; Rahema Mohammad; Aziza Chedrawi; Nicola De Stefano; Giovanni Zifarelli; Ludger Schöls; Tobias B. Haack; Adriana Rebelo; Stephan Zuchner; Filiz Koc; Lyn R. Griffiths; Lorena Orozco; Karla García Helmes; Meisam Babaei; Peter Bauer; Won Chan Jeong; Ehsan Ghayoor Karimiani; Miriam Schmidts; Joseph G. Gleeson; Wendy K. Chung; Fowzan Sami Alkuraya; Bita Shalbafan; Hugh S. Markus; Henry Houlden; Reza Maroofian

EBioMedicine, Vol 107, Iss , Pp 105297- (2024)

Koopmann, Tamara T.; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M.; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; Zifarelli, Giovanni; Karimiani, Ehsan G.; Sedighzadeh, Sahar; Bahreini, Amir; Nouri, Nayereh; Peter, Merlene; Watanabe, Kyoko; van Duyvenvoorde, Hermine A.; Ruivenkamp, Claudia A. L.; Teunissen, Aalbertine K. K.; Ten Harkel, Arend D. J.; van Duinen, Sjoerd G.; Haak, Monique C.; Prada, Carlos E.; Santen, Gijs W. E.; Maroofian, Reza

European Journal of Human Genetics. 31(1):97-104

Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Quirin T; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium.; Rocca C; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Suri M; UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Dominguez R; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Palindrome, Isfahan, Iran.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt.; Morsy H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt.; Mau-Them FT; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon 21070, France; INSERM UMR1231 GAD, Dijon 21000, France.; Nizon M; Service de génétique médicale, CHU de Nantes, Nantes, France; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.; Tesner P; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Ryba L; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.; Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.; Saadi NW; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq.; Firoozfar Z; Palindrome, Isfahan, Iran.; Gencpinar P; İzmir Katip Çelebi University Tepecik Training and Research Department of Pediatric Neurology, Izmir, Turkey.; Unay B; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.; Ustun C; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.; Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France; INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, 21078, France.; Coubes C; Département de Génétique Médicale, Maladies rares et Médecine Personnalisée, et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHRU de Montpellier, Montpellier, France.; Stefanich J; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA.; Sezer O; Department of Medical Genetics, Samsun University, Faculty of Medicine, Samsun, Turkey.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Vasco G; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Lettori D; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Milh M; Aix-Marseille Univ, APHM, department of Pediatrics Neurology. Timone children Hospital. Marseille, France.; Villard L; Aix Marseille Univ, Inserm, MMG, Marseille, France; Service de Génétique Médicale, AP-HM, Hôpital de La Timone, Marseille, France.; Zeidler S; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, The Netherlands.; Opperman H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; El Khassab H; Sulaiman Al Habib Hospital - Olaya Medical Complex - Riyadh, Saudi Arabia.; Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan.; Ibrahim S; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan.; Nejad-Rashidi A; Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran; Genetics Ward, Yas Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Larki P; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA.; Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States; Kansas City School of Medicine, University of Missouri, Kansas City, MO, United States; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, United States.; Bertsch NL; The Community Health Clinic, Shipshewana, Indiana, USA.; Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA; Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA.; Moran E; Clinical Genetics, Center for Children, Hassenfeld Children's Hospital, New York University, New York, New York, USA.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Hosseini S; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran.; Abbaszadegan MR; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France.; Vissers LELM; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.; Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.; Montazer MZ; Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.; El Fahime E; National Centre for Scientific and Technical Research, Rabat, Morocco.; Canavati C; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Kamal L; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Kanaan M; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Askander O; Faculty of Medical Sciences, Mohammed 6 Polytechnic University of Benguerir, Ben Guerir, Morocco.; Voinova V; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia, 125412; Mental Health Research Center, Moscow, Russia, 117152.; Levchenko O; Research Centre for Medical Genetics, Moscow, Russia.; Haider S; Paediatrics Wah Medical College NUMS, Wah Cantonment, Punjab 44000, Pakistan.; Halbach SS; University of Chicago Medicine, University of Chicago, Chicago, IL, USA.; Maia ER; Division of Genetics, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil.; Mansoor S; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Research Center of Genome, Isfahan University of Medical Sciences, Isfahan, Iran.; Vivek J; Department of Pediatric Neurology, Neo Clinic Children's Hospital, Jaipur 302019, India.; Tawde S; Department of Human Genetics, The University of Chicago, Illinois.; Santhosh R Challa V; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Victor LA; Department of Pediatric Neurology - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Boa Vista, Recife, Brazil.; Pinero-Banos B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Hague J; Clinical Genetics service, Northampton General Hospital, Northampton NN15BD, UK.; Ei-Awady HA; Department of Pediatrics, Fayoum University Hospitals, Fayoum, Egypt.; Maria de Miranda Henriques-Souza A; Instituto de Medicina Integral Prof. Fernando Figueira, Centro de Terapias Cetogênicas do IMIP, Recife PE, Brazil.; Cheema HA; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan.; Anjum MN; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan.; Idkaidak S; Al-Quds University, Jerusalem, Palestine.; Alqarajeh F; PRCS hospital, Hebron, Palestine.; Atawneh O; PRCS hospital, Hebron, Palestine.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Kok F; Mendelics Genomic Analysis, São Paulo, Brazil.; Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil.; Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil.; Josahkian J; Mendelics Genomic Analysis, São Paulo, Brazil.; Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France.; Chatron N; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France.; Ville D; Department of Neuropediatric, University Hospital of Lyon, Lyon, France.; Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA.; Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA.; Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Tay CG; Clinical Research Centre, Sunway Medical Centre, Malaysia.; Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan.; Carr L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Kanani F; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Beecroft F; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, UK.; Hane L; Division of Medical Genetics, 3Billion Inc, Seoul, South Korea.; Abdelkreem E; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.; Macek M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Bispo L; Laboratório Mendelics, Department of Genetic, São Paulo, Brazil.; Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Egypt.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Amor DJ; Murdoch Children's Research Institute and University of Melbourne of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Australia.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusset's, USA.; Ghayoor EK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Campeau P; CHU Sainte-Justine Research Center, Montreal, QC, Canada; Department of Pediatrics, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Gleeson J; Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego 92123, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Lafontaine DLJ; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. Electronic address: r.maroofian@ucl.ac.uk.

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

Iruzubieta P; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom; Department of Neurology, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain; CIBERNED, Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), 28029, Madrid, Spain.; Alves CAPF; Neuroradiology Division, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA.; Al Shamsi AM; Genetic Division, Paediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.; ElGhazali G; Sheikh Khalifa Medical City, Purelab, Purehealth, Abu Dhabi, United Arab Emirates; College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, El-Tahrir Street, Dokki, Cairo, Egypt.; Pinelli L; Neuroradiology Unit, Pediatric Neuroradiology Section, ASST SpedaliCivili, Brescia, Italy.; Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Cho BPH; Department of Clinical Neurosciences, University of Cambridge, United Kingdom.; Jolly AA; Department of Clinical Neurosciences, University of Cambridge, United Kingdom.; Al Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Oman.; Al-Amrani F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Oman.; Galli J; Child Neurology and Psychiatry Unit, ASST SpedaliCivili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Fazzi E; Child Neurology and Psychiatry Unit, ASST SpedaliCivili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Vulin K; Department of Medical and Laboratory Genetics, ERN-Ithaca Zagreb Center, Children's Hospital Zagreb, Zagreb, Croatia; Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia.; Barajas-Olmos F; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, CDMX, Mexico.; Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.; Aljamal BM; Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.; Nasr V; Department of Neurology - Kermanshah Imam Reza (AS) Hospital Complex, Kermanshah University of Medical Sciences, Kermanshah, Iran.; Assarzadegan F; Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences(SBUMS), Tehran, Iran.; Ragno M; Pianeta Salute, Viale Assisi, 88, 63084, Villa Pigna, Ascoli Piceno, Italy.; Trojano L; Department of Psychology, University of Campania 'Luigi Vanvitelli', Viale Ellittico 31, 81100, Caserta, Italy.; Ojeda NM; Rady Children's Institute for Genomic Medicine, University of California, San Diego, La Jolla, USA.; Çakar A; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093, Istanbul, Turkey.; Bianchi S; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Pescini F; Department of Emergency, Stroke Unit, Careggi University Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy.; Poggesi A; Department of Emergency, Stroke Unit, Careggi University Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy.; Al Tenalji A; Sheikh Khalifa Medical City, Purelab, Purehealth, Abu Dhabi, United Arab Emirates.; Aziz M; Sheikh Khalifa Medical City, Department of Pediatric Neurology, Abu Dhabi, United Arab Emirates.; Mohammad R; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom.; Chedrawi A; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; De Stefano N; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany.; Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Koc F; Department of Neurology, Faculty of Medicine, Cukurova University, Adana, Turkey.; Griffiths LR; Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, 60 Musk Ave, Kelvin Grove, QLD, 4059, Australia.; Orozco L; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, CDMX, Mexico.; Helmes KG; Department of Genetics, General Hospital - Dr. Aurelio Valdivieso, Oaxaca de Juárez, Oaxaca, Mexico.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany.; Chan Jeong W; 3billion, Seoul, South Korea.; Karimiani EG; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom.; Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Mathildenstrasse 1, 79106, Freiburg, Germany; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.; Gleeson JG; Rady Children's Institute for Genomic Medicine, University of California, San Diego, La Jolla, USA.; Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, USA.; Alkuraya FS; Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.; Shalbafan B; Cellular and Molecular Endocrine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Markus HS; Department of Clinical Neurosciences, University of Cambridge, United Kingdom.; Houlden H; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom.; Maroofian R; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.

Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Shimada IS; Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Fujimoto M; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Sato E; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Takase H; Core Laboratory, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Aoki S; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan.; Miyauchi A; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan.; Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan.; Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan.; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama 2360004, Japan.; Arioka Y; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya 4668550, Japan.; Honda M; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.; Laboratory of Molecular and Cellular Physiology, Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima 7398526, Japan.; Higashi T; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan.; Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, 1608582, Japan.; Okubo Y; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 9893126, Japan.; Ogawa I; Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 4678603, Japan.; Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1516745811, Iran.; Alijanpour S; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1516745811, Iran.; Ahmadabadi F; Pediatric Neurology Department, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1546815514, Iran.; Herkenrath P; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.; Dafsari HS; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.; Max-Planck-Institute for Biology of Ageing, Cologne 50931, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne 50931, Germany.; Velmans C; Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne 50931, Germany.; Al Balwi M; Department of Pathology and Laboratory Medicine, College of Medicine, KSAU-HS, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; Vitobello A; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon 21000, France.; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, University of Burgundy, Dijon 21000, France.; Denommé-Pichon AS; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon 21000, France.; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, University of Burgundy, Dijon 21000, France.; Jeanne M; Genetics Department, University Hospital of Tours, Tours 37044, France.; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Civit A; Genetics Department, University Hospital of Tours, Tours 37044, France.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Naderi H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan 4918936316, Iran.; Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan 4918936316, Iran.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Carroll CJ; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London SW17 0RE, UK.; Ghayoor Karimiani E; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London SW17 0RE, UK.; Khailany RA; Department of Basic Science, Hawler Medical University, Erbil, Kurdistan Region 44001, Iraq.; Abdulqadir TA; Department of Pediatrics, College of Medicine, Hawler Medical University, Erbil, Kurdistan Region 44001, Iraq.; Ozaslan M; Department of Biology, Division of Molecular Biology and Genetics, Gaziantep University, Gaziantep 27410, Turkey.; Bauer P; Centogene GmbH, Rostock 18055, Germany.; Zifarelli G; Centogene GmbH, Rostock 18055, Germany.; Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.; Al Alam C; Pediatrics and Pediatric Neurology, American Center for Psychiatry and Neurology, Abu Dhabi 108699, UAE.; Alvi JR; Department of Pediatric Neurology, the Children's Hospital and the University of Child Health Sciences, Lahore 54600, Pakistan.; Sultan T; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Pope SAS; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 9893126, Japan.; Matsunaga T; Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 4678603, Japan.; Osaka H; Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan.; Ozaki N; Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya 4668550, Japan.; Ohkawa Y; Division of Transcriptomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 8128582, Japan.; Oki S; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.; Institute of Resource Development and Analysis, Kumamoto University, Kumamoto 8600811, Japan.; Tsunoda T; Laboratory for Medical Science Mathematics, Department of Biological Sciences, School of Science, The University of Tokyo, Tokyo 113-0033, Japan.; Laboratory for Medical Science Mathematics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 113-0033, Japan.; Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Taketomi Y; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Murakami M; Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan.; Kato Y; Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.; Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Maroofian R; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Sarraf P; Department of Neuromuscular Diseases, Iranian Centre of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran 1416753955, Iran.; Department of Neurology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran 1416753955, Iran.; O'Brien TJ; Institute of Clinical Sciences, Imperial College London, London SW7 2AZ, UK.; MRC Laboratory of Medical Sciences, London W12 0HS, UK.; Kamel M; Department of Pediatrics, Neurology and Metabolic Division, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 4240310, Egypt.; Cakar A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Neuromuscular Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.; Lau T; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Patil SJ; Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospital, Bangalore 560099, India.; Record CJ; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Horga A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Essid M; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia.; Selim L; Department of Pediatrics, Neurology and Metabolic Division, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 4240310, Egypt.; Benrhouma H; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia.; Ben Younes T; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia.; Zifarelli G; CENTOGENE GmbH, Rostock 18055, Germany.; Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK.; Bauer P; CENTOGENE GmbH, Rostock 18055, Germany.; Khundadze M; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany.; Mirecki A; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany.; Kamel SM; Department of Radiology, Cairo University, Cairo 12613, Egypt.; Elmonem MA; Department of Clinical and Chemical Pathology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 12613, Egypt.; Ghayoor Karimiani E; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad 9187147578, Iran.; Jamshidi Y; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Offiah AC; Division of Clinical Medicine, School of Medicine & Population Health, University of Sheffield, Sheffield S10 2RX, UK.; Rossor AM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Youssef-Turki IB; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia.; Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany.; Center for Rare Diseases, Jena University Hospital, Friedrich Schiller Universität, Jena 07747, Germany.; Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital NHS Trust, London WC1N 3JH, UK.; Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Brown AEX; Institute of Clinical Sciences, Imperial College London, London SW7 2AZ, UK.; MRC Laboratory of Medical Sciences, London W12 0HS, UK.; Nagy S; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Neurology, University Hospital Basel, University of Basel, Basel 4031, Switzerland.; Houlden H; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Zifarelli G; Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Genova, Italy.; Centogene GmbH, Rostock, Germany.; Pusch M; Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Genova, Italy.; Stauber T; Institute for Molecular Medicine, MSH Medical School Hamburg, Hamburg, Germany.

Publisher: Frontiers Media] Country of Publication: Switzerland NLM ID: 101548923 Publication Model: eCollection Cited Medium: Print ISSN: 1663-9812 (Print) Linking ISSN: 16639812 NLM ISO Abbreviation: Front Pharmacol Subsets: PubMed not MEDLINE

Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Dorison N; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Sultan T; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Leeuwen L; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Bauer P; CENTOGENE GmbH, Rostock, Germany.; d'Hardemare V; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doummar D; AP-HP. Sorbonne Université, Service de Neuropédiatrie et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, FHU I2D2, Paris, France.; Roze E; Assistance Publique-Hôpitaux de Paris CHU Pitié-Salpêtrière DMU Neurosciences et Sorbonne Université, INSERM, CNRS, Institut du Cerveau, Paris, France.; Travaglini L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy.; Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS, Bambino Gesù Children's Hospital of Rome, Rome, Italy.; Ojea Ponce N; Department of Statistics, Institut de Recerca Sant Joan de Déu Barcelona, Barcelona, Spain.; Zahraei SM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Tamim A; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ababneh F; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Morrow MM; GeneDx, Gaithersburg, Maryland, USA.; Curry C; Department of Pediatrics, Genetic Medicine, UCSF/Fresno, Fresno, California, USA.; Tam A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Ruedy J; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Bhambhani V; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Veith R; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo, University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Burglen L; Centre de Référence Maladies Rares 'Malformations et Maladies Congénitales du Cervelet,' Hôpital Trousseau, APHP, Sorbonne University, Paris, France.; Département de Génétique, APHP, Sorbonne University, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR, Paris, France.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

De Pace R; Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child, Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Paimboeuf A; Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Department of Molecular Genetics, Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 61556-89467, Iran.; Zaki MS; Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre, Cairo 12622, Egypt.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 61357-33184, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 61357-33184, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.; Zeighami J; Department of Molecular Genetics, Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 61556-89467, Iran.; Williamson CD; Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child, Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Fleming E; Department of Genetics, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Zhou D; Department of Genetics, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.; Gannon JL; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Thiffault I; Department of Genetics, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Department of Pathology, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Roze E; Sorbonne Université, CNRS, INSERM, Institut du Cerveau (ICM), and Assistance Publique-Hôpitaux de Paris, Department of Neurology, Hôpital de la Pitié-Salpêtrière, Paris 75013, France.; Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham NG5 1PB, UK.; Zifarelli G; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; Patten SA; Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Départementde Neurosciences, Université de Montréal, Montréal, QC H3C 3J7, Canada.; Farrow E; Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO 64108, USA.; Bonifacino JS; Neurosciences and Cellular and Structural Biology Division, Eunice Kennedy Shriver National Institute of Child, Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Chelban, V.; Maroofian, R.; Vandrovcova, J.; Kaiyrzhanov, R.; Salpietro, V.; Efthymiou, S.; Schottlaender, L.V.; Morsy, H.; Scardamaglia, A.; Tariq, A.; Houlden, H.; Houlden, H.; Aksnes, H.; Siggervåg, A.; Pennavaria, A.; Krogstad, L.S.; Bekkelund, Å.K.; Caiella, A.; Glomnes, N.; Brønstad, K.M.; Arnesen, T.; LaMonica, L.C.; Ernst, A.M.; Rothman, J.E.; Seabra, L.; Crow, Y.J.; Devic, P.; Shamseldin, H.E.; Abdulwahab, F.; Alkuraya, F.S.; Murphy, D.; Wood, N.W.; Richard, A.-C.; Quenez, O.; Bonnevalle, A.; Nicolas, G.; Zanetti, M.N.; Pagnamenta, A.T.; Tury, S.; Battini, J.-L.; Moreno De Luca, A.; Boland-Auge, A.; Olaso, R.; Deleuze, J.-F.; Anheim, M.; Cretin, B.; Vona, B.; Alajlan, F.; İpek, R.; Bauer, P.; Zifarelli, G.; Gungor, S.; Kurul, S.H.; Lochmuller, H.; Da’as, S.I.; Fakhro, K.A.; Gómez-Pascual, A.; Botía, J.A.; Horvath, R.; McEntagart, M.; Alkuraya, F.S.

In: Nature Communications. (Nature Communications, December 2024, 15(1))