부산대학교 도서관

Laarne M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Oghabian A; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Laitila J; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism Research, University of Helsinki, Helsinki, Finland.; Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Tynninen O; Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Zhao F; Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Rostedt F; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Sarparanta J; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Sagath L; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Lawlor MW; Department of Pathology, Medical College of Wisconsin, Milwaukee, WI, USA.; Diverge Translational Science Laboratory, Milwaukee, WI, USA.; Wallgren-Pettersson C; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Lehtokari VL; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Pelin K; Folkhälsan Research Center, Helsinki, Finland.; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Turtinen T; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.; Isohanni P; Department of Pediatric Neurology, Pediatric Research Center, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Anttonen AK; Laboratory of Genetics, Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Huhti L; Department of Clinical Genetics, Fimlab Laboratories, Tampere, Finland.; Pylkäs K; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland.; Northern Finland Laboratory Centre, Oulu, Finland.; Tikkanen M; Department of Pediatric Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland.; Hakonen AH; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Strang-Karlsson S; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Mantere T; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit, Medical Research Center Oulu and Biocenter Oulu, University of Oulu, Oulu, Finland. tuomo.mantere@oulu.fi.

Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE

Lehtokari VL; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland.; Similä M; Clinical Nutrition Unit, Internal Medicine and Rehabilitation, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.; Tammepuu M; Department of Pediatric Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Isohanni P; Department of Pediatric Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Auranen M; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Hiekkala S; The Finnish Association of People with Physical Disabilities, Helsinki, Finland.; Wallgren-Pettersson C; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland.; Strang-Karlsson S; Department of Clinical Genetics, HUS Diagnostic Center, Helsinki University Hospital and University of Helsinki, Finland.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Kristensen E; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Department of Clinical Medicine 1 (K1), University of Bergen, Bergen, Norway.; Naess K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Neuropediatrics, Astrid Lindgren Childrens Hospital, Karolinska University Hospital, Stockholm, Sweden.; Engvall M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Klingenberg C; Department of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromsø, Norway.; Research Group for Child and Adolescent Health, Department of Clinical Medicine, UiT-The Arctic University of Norway, Tromsø, Norway.; Rasmussen M; Division of Paediatric and Adolescent Medicine, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway.; Unit for Congenital and Hereditary Neuromuscular Disorders (EMAN), Department of Neurology, Oslo University Hospital, Oslo, Norway.; Brodtkorb E; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.; Department of Neurology and Clinical Neurophysiology, St. Olav University Hospital, Trondheim, Norway.; Ostergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; de Coo I; Faculty of Health, Medicine and Life Sciences, Department of Translational Genomics, University of Maastricht, Maastricht, the Netherlands.; Pias-Peleteiro L; Neurometabolic Disorders Unit, Department of Pediatric Neurology/Department of Genetics and Molecular Medicine, Sant Joan de Déu Children's Hospital, Barcelona, Spain.; Isohanni P; Department of Pediatric Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Uusimaa J; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.; Pediatric Neurology Unit, Clinic for Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland.; Majamaa K; Neurocenter, Oulu University Hospital, Oulu, Finland.; Research Unit of Clinical Medicine, Neurology, and Medical Research Center, University of Oulu, Oulu, Finland.; Kärppä M; Neurocenter, Oulu University Hospital, Oulu, Finland.; Research Unit of Clinical Medicine, Neurology, and Medical Research Center, University of Oulu, Oulu, Finland.; Martikainen MH; Neurocenter, Oulu University Hospital, Oulu, Finland.; Research Unit of Clinical Medicine, Neurology, and Medical Research Center, University of Oulu, Oulu, Finland.; Department of Neurology, University of Turku and Turku University Hospital, Turku, Finland.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Tangeraas T; Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.; Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Sue CM; Neuroscience Research Australia and Faculty of Medicine and Health, University of New South Wales, Sydney, Australia.; Department of Neurology, Prince of Wales Hospital, South Eastern Sydney Local Health District, Sydney, Australia.; Walker JS; Neuroscience Research Australia and Faculty of Medicine and Health, University of New South Wales, Sydney, Australia.; Department of Neurology, Prince of Wales Hospital, South Eastern Sydney Local Health District, Sydney, Australia.; Harrison E; Department of Clinical Neurosciences, University of Cambridge, UK.; Biggs H; Department of Clinical Neurosciences, University of Cambridge, UK.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, UK.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.; Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust UK, London, UK.; Hikmat O; Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Science (K2), University of Bergen, Bergen, Norway.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Hikmat O; Department of Paediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, Norway. omar.hikmat@uib.no.; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway. omar.hikmat@uib.no.; European Reference Network for Hereditary Metabolic Disorders, Oslo, Norway. omar.hikmat@uib.no.; Naess K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Neuropediatrics, Astrid Lindgren Childrens Hospital, Karolinska University Hospital, Stockholm, Sweden.; Engvall M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Klingenberg C; Department of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromso, Norway.; Paediatric Research Group, Department of Clinical Medicine, UiT, The Arctic University of Norway, Tromso, Norway.; Rasmussen M; Division of Paediatric and Adolescent Medicine, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway.; Department of Neurology, Unit for Congenital and Hereditary Neuromuscular Disorders, Oslo University Hospital, Oslo, Norway.; Brodtkorb E; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology, Trondheim, Norway.; Department of Neurology and Clinical Neurophysiology, St. Olav University Hospital, Trondheim, Norway.; Ostergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; de Coo I; Faculty of Health, Medicine and Life Sciences, Department of Toxicology, University of Maastricht, Maastricht, The Netherlands.; Pias-Peleteiro L; Neurometabolic Disorders Unit, Department of Child Neurology/ Department of Genetics and Molecular Medicine, Sant Joan de Déu Children´S Hospital, Barcelona, Spain.; Isohanni P; Department of Pediatric Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; European Reference Network for Hereditary Metabolic Disorders, Helsinki, Finland.; Uusimaa J; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.; Department of Pediatric Neurology, Clinic for Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland.; Majamaa K; Research Unit of Clinical Medicine, Neurology, and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Neurocenter, Oulu University Hospital, Oulu, Finland.; Kärppä M; Research Unit of Clinical Medicine, Neurology, and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; Neurocenter, Oulu University Hospital, Oulu, Finland.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Tangeraas T; European Reference Network for Hereditary Metabolic Disorders, Oslo, Norway.; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.; Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Harrison E; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Biggs H; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.; Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.; Metabolic Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.; European Reference Network for Hereditary Metabolic Disorders, London, UK.; Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; European Reference Network for Hereditary Metabolic Disorders, Oslo, Norway.; Department of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Ferla M; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK.; Tortora D; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saadi SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Abdullah U; University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, 46300 Rawalpindi, Pakistan.; Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; 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, Iran.; Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Yeşil G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Al Shamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE.; Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.; Saadi NW; College of Medicine, University of Baghdad, 10071 Baghdad, Iraq.; Children Welfare Teaching Hospital, 10071 Baghdad, Iraq.; Al Mutairi F; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; Alabdi L; Department of Zoology, College of Science, King Saud University, 11421 Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia.; Beetz C; Centogene GmbH, 18055 Rostock, Germany.; Ali Z; Department of Cellular and Molecular Medicine, WJC PANUM, University of Copenhagen, DK-1165 Copenhagen, Denmark.; Centre for Biotechnology and Microbiology, University of Swat, Swat 19120, Pakistan.; Toosi MB; Pediatric Neurology Department Pediatric Ward Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.; Department of Child Neurology, Children's Hospital, Paediatric Research Center, University of Helsinki and Helsinki University Hospital, 00014 Helsinki, Finland.; Muhammad J; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Centre for Regenerative Medicine and Stem Cell Research, Juma Building, Aga Khan University, Karachi 74800, Pakistan.; Khan S; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Al Shalan M; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.; Marom D; Genetics Institute and Genomic Center, Tel Aviv Sourasky Medical Center, and Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Elhanan E; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, Kuwait.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Spaull R; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Meng L; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Lalani S; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Maqbool S; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan.; Rahman F; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan.; Seeger J; Center for Social Pediatrics and Epilepsy Outpatient Clinic Frankfurt Mitte, 60316 Frankfurt am Main, Germany.; Palculict TB; GeneDx, Gaithersburg, MD 20877, USA.; Lau T; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Mencacci NE; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Begemann A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Akbas S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Aslanger AD; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Salpietro V; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences (DISCAB), University of L'Aquila, 67100 L'Aquila, Italy.; Yousaf H; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Ben-Shachar S; Clalit Research Institute, Clalit Health Services, 6578898 Ramat Gan, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ejeskär K; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden.; Al Aqeel AI; Department of Pediatrics, Prince Sultan Military Medical City, 12233 Riyadh, Saudi Arabia.; American University of Beirut, 1107 2020 Beirut, Lebanon.; Alfaisal University, 11533 Riyadh, Saudi Arabia.; High FA; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Harvard Medical School, Boston, MA 02115, USA.; Armstrong-Javors AE; Harvard Medical School, Boston, MA 02115, USA.; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Zahraei SM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Diabetes Research center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Asl SN; Department of Pediatrics Endocrinology, Mashhad University of Medical Sciences, Mashhad, Iran.; Shahrooei M; Specialized Immunology Laboratory of Dr Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, 3000 Leuven, Belgium.; Zifarelli G; Centogene GmbH, 18055 Rostock, Germany.; Burglen L; Cerebellar Malformations and Congenital diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, 75015 Paris, France.; Ravelli C; Pediatric Neurology Department, Movement Disorders Center, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France.; Zschocke J; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Schatz UA; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich, 81675 Munich, Germany.; Ghavideldarestani M; Hull York Medical School, Hull HU6 7RX, UK.; Kamel WA; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Neurology, Faculty of Medicine, Beni-Suef University, 62521 Beni Suef, Egypt.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven-University of Leuven, 3000 Leuven, Belgium.; Hackenberg A; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, 8032 Zürich, Switzerland.; Taylor JC; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK.; Al-Gazali L; Departments of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE.; Bauer P; Centogene GmbH, 18055 Rostock, Germany.; Gleeson JJ; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Chung WK; Boston Children's Hospital and Harvard Medical School Boston, MA 02115, USA.; Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, 74800 Karachi, Pakistan.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

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

Palu E; Department of Clinical Neurophysiology, Medical Imaging Center, Helsinki University Hospital, Helsinki, Finland.; Järvilehto J; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Pennonen J; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Huber N; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.; Herukka SK; Department of Neurology, Kuopio University Hospital, Kuopio, Finland.; Neurology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.; Haapasalo A; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.; Isohanni P; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Child Neurology, New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Tyynismaa H; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Auranen M; Clinical Neurosciences, Neurology, Helsinki University Hospital, Biomedicum Room 525B, Haartmaninkatu 8, 00290, Helsinki, Finland.; Ylikallio E; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland. emil.ylikallio@helsinki.fi.; Clinical Neurosciences, Neurology, Helsinki University Hospital, Biomedicum Room 525B, Haartmaninkatu 8, 00290, Helsinki, Finland. emil.ylikallio@helsinki.fi.

Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

Aaltio J; Research Programs Unit, Stem Cells and Metabolism Research, University of Helsinki, Helsinki, Finland. Electronic address: juho.aaltio@helsinki.fi.; Euro L; Research Programs Unit, Stem Cells and Metabolism Research, University of Helsinki, Helsinki, Finland.; Tynninen O; Department of Pathology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Vu HS; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Ni M; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA.; DeBerardinis RJ; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, USA; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Suomalainen A; Research Programs Unit, Stem Cells and Metabolism Research, University of Helsinki, Helsinki, Finland; HUS Diagnostic Centre, Helsinki University Hospital, Helsinki, Finland; HiLife, University of Helsinki, Helsinki, Finland.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism Research, University of Helsinki, Helsinki, Finland; Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Parasyri M; Department of Paediatrics, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Brandström P; Department of Paediatrics, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Uusimaa J; Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland.; PEDEGO Research Unit, Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Ophthalmology, Otorhinolaryngology, Medical Research Center Oulu (MRC Oulu), University of Oulu, Oulu, Finland.; Ostergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Hikmat O; Department of Pediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Isohanni P; Department of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland.; Naess K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; de Coo IFM; Department Toxicogenomics, Faculty of Health, Medicine and Life Sciences, Graduate School MHeNS, Maastricht University, Maastricht, The Netherlands.; Nascimento Osorio A; Neuromuscular Diseases Unit, Hospital Sant Joan de Déu, Barcelona, Spain.; Nuutinen M; Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland.; PEDEGO Research Unit, Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Ophthalmology, Otorhinolaryngology, Medical Research Center Oulu (MRC Oulu), University of Oulu, Oulu, Finland.; Lindberg C; Department of Neurology, Neuromuscular Centre, Sahlgrenska University Hospital, Gothenburg, Sweden.; Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Neuro-SysMed, Center of Excellence for Clinical Research in Neurological Diseases, Haukeland University Hospital, Bergen, Norway.; Tulinius M; Department of Paediatrics, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Darin N; Department of Paediatrics, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Sofou K; Department of Paediatrics, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Paediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101658365 Publication Model: eCollection Cited Medium: Print ISSN: 2296-9381 (Print) Linking ISSN: 22969357 NLM ISO Abbreviation: Kidney Dis (Basel) Subsets: PubMed not MEDLINE

Palmio J; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Kiviranta P; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Hartikainen PH; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Isohanni P; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Auranen M; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Videman K; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Penttilä S; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Lehtinen S; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Kirjavainen J; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Hintikka S; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Paloviita K; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Saarela J; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.; Udd B; From the Neuromuscular Research Center (J.P., S.P., B.U.), Tampere University and University Hospital, Neurology; The Finnish Medical Society Duodecim (P.K.), Helsinki; Department of Pediatrics (P.K.), Kuopio University Hospital, and University of Eastern Finland Kuopio; Neurocenter (P.H.H.), Neurology, Kuopio University Hospital; Department of Child Neurology (P.I.), Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital; Research Programs Unit (P.I.), Stem Cells and Metabolism, University of Helsinki; Clinical Neurosciences (M.A.), Neurology, University of Helsinki and Helsinki University Hospital; Department of Pediatric Neurology (K.V.); Department of Genetics (S.L.), Fimlab Laboratories, Tampere University Hospital; Department of Pediatric Neurology (J.K.), Kuopio University Hospital; Department of Neurology (S.H., K.P.), Central Finland Central Hospital, Jyväskylä; Institute for Molecular Medicine Finland FIMM (J.S.), University Helsinki, Finland; Centre for Molecular Medicine Norway (J.S.), University of Oslo, Norway; Folkhälsan Institute of Genetics and the Department of Medical Genetics (B.U.), Haartman Institute, University of Helsinki; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Baylor Genetics, Houston, TX.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Shao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.; Hickey SE; Department of Pediatrics, Ohio State University College of Medicine, Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Brooks S; Department of Pediatrics, Ohio State University College of Medicine, Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Suomalainen A; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Joset P; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Hackenberg A; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland.; High FA; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA.; Harvard Medical School, Boston, MA.; Armstrong-Javors A; Harvard Medical School, Boston, MA.; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA.; Mencacci NE; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Gonzàlez-Latapi P; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Kamel WA; Department of Neurology, Ibn Sina Hospital, Kuwait City, Kuwait.; Department of Neurology, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.; Al-Hashel JY; Department of Neurology, Ibn Sina Hospital, Kuwait City, Kuwait.; Department of Medicine, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Bustos BI; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Hernandez AV; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Krainc D; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Lubbe SJ; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; De Luca C; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Ballon K; Centre for Developmental Disabilities, University Hospitals Leuven, Leuven, Belgium.; Ravelli C; Pediatric Neurology Department, Neurogenetics Reference Center, I-motion Institute, Public Hospital Network of Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.; Burglen L; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Public Hospital Network of Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, Paris, France.; Qebibo L; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Public Hospital Network of Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Division of 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, TX.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Saadi NW; College of Medicine, Baghdad University, Baghdad, Iraq.; Children Welfare Teaching Hospital, Baghdad, Iraq.; Sahin Y; Department of Medical Genetics, Genoks Genetic Center, Ankara, Turkey.; Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Efthymiou S; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Maqbool S; Development and Behavioral Pediatrics Department, Institute of Child Health and Children Hospital, Lahore, Pakistan.; Rahman F; Development and Behavioral Pediatrics Department, Institute of Child Health and Children Hospital, Lahore, Pakistan.; Gu S; School of Biomedical Sciences, Chinese University of Hong Kong, Shatin, Hong Kong SAR.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Hunter JV; Edward B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX.; Department of Radiology, Baylor College of Medicine, Houston, TX.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Jan and Dan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Carroll CJ; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Molecular and Clinical Sciences Research Institute, St George's, University of London, London, United Kingdom.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Baylor Genetics, Houston, TX.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Lehtonen JM; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Auranen M; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Darin N; Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.; Sofou K; Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.; Bindoff L; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Department of Neurology, Haukeland University Hospital, Bergen, Norway.; Hikmat O; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.; Uusimaa J; Department of Pediatric Neurology, Clinic for Children and Adolescents, Medical Research Center, Oulu University Hospital, and PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Vieira P; Department of Pediatric Neurology, Clinic for Children and Adolescents, Medical Research Center, Oulu University Hospital, and PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Tulinius M; Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.; Lönnqvist T; Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; de Coo IF; Department of Neurology, Medical Spectrum Twente, Enschede, The Netherlands.; Department of Genetics and Cell Biology, University of Maastricht, Maastricht, The Netherlands.; Suomalainen A; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Neuroscience Center, HiLife, University of Helsinki, Helsinki, Finland.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Viinikainen K; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland.; Isohanni P; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Kanerva J; Department of Pediatrics, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Lönnqvist T; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland.; Lauronen L; Department of Clinical Neurophysiology, Children's Hospital, HUH Medical Imaging Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101684308 Publication Model: eCollection Cited Medium: Internet ISSN: 2467-981X (Electronic) Linking ISSN: 2467981X NLM ISO Abbreviation: Clin Neurophysiol Pract Subsets: PubMed not MEDLINE

Aaltio J; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland. juho.aaltio@helsinki.fi.; Etula A; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland.; Ojanen S; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland.; Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.; Brilhante V; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland.; Lönnqvist T; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland.; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Suomalainen A; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland. anu.wartiovaara@helsinki.fi.; HUS Diagnostic Centre, Helsinki University Hospital, Helsinki, Finland. anu.wartiovaara@helsinki.fi.; HiLife, University of Helsinki, Helsinki, Finland. anu.wartiovaara@helsinki.fi.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE

Ortigoza-Escobar JD; Alfadhel M; Molero-Luis M; Darin N; Spiegel R; de Coo IF; Gerards M; Taylor RW; Artuch R; Nashabat M; Rodriguez-Pombo P; Tabarki B; Pérez-Dueñas B; Distelmaier F; Hahn A; Morava E; Banka S; Debs R; Fraser JL; Isohanni P; Lahdesmaki T; Livingston J; Nadjar Y; Schuler E; Uusimaa J; Vanderver A; Friedman JR; Zimbric MR; McFarland R; Santra S; Wassmer E; Marti-Sanchez L; Darling A

Thiamine Deficiency Study Group & Banka, S 2017, 'Thiamine Deficiency in Childhood with Attention to Genetic Causes : Survival and Outcome Predictors', Annals of Neurology, vol. 82, no. 3. https://doi.org/10.1002/ana.24998

Hovinen T; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland.; Korkalo L; Department of Food and Nutrition, University of Helsinki, Helsinki, Finland.; Freese R; Department of Food and Nutrition, University of Helsinki, Helsinki, Finland.; Skaffari E; Department of Food and Nutrition, University of Helsinki, Helsinki, Finland.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland.; Department of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Niemi M; Individualized Drug Therapy Research Program, University of Helsinki, Helsinki, Finland.; HUSLAB, Helsinki University Hospital, Helsinki, Finland.; Nevalainen J; Health Sciences, Faculty of Social Sciences, Tampere University, Tampere, Finland.; Gylling H; Department of Medicine, Division of Internal Medicine, University of Helsinki, Helsinki, Finland.; Zamboni N; Institute of Molecular Systems Biology, ETH Zürich, Zürich, Switzerland.; Erkkola M; Department of Food and Nutrition, University of Helsinki, Helsinki, Finland.; Suomalainen A; Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland.; HUSLAB, Helsinki University Hospital, Helsinki, Finland.; Neuroscience Center, HiLife, University of Helsinki, Helsinki, Finland.

Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Haack TB; Ignatius E; Calvo-Garrido J; Iuso A; Isohanni P; Maffezzini C; Lonnqvist T; Suomalainen A; Gorza M; Kremer LS; Graf E; Hartig M; Berutti R; Paucar M; Svenningsson P; Stranneheim H; Brandberg G; Wedell A; Kurian MA; Hayflick SA; Venco P; Tiranti V; Strom TM; Dichgans M; Horvath R; Holinski-Feder E; Freyer C; Meitinger T; Prokisch H; Senderek J; Wredenberg A; Carroll CJ; Klopstock T

The American journal of human genetics 99(3), 735-743 (2016). doi:10.1016/j.ajhg.2016.06.026
Am. J. Hum. Genet. 99, 735-743 (2016)

Ylikallio E; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Ritari N; Neuropsychology, New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Sainio M; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Toppila J; Department of Clinical Neurophysiology, Medical Imaging Center, Helsinki University Central Hospital, Helsinki Finland.; Kivirikko S; Department of Clinical Genetics, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Finland.; Tyynismaa H; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Department of Medical and Clinical Genetics, University of Helsinki, Finland.; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.; Auranen M; Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Isohanni P; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Neurology, New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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

Gut P; Gladstone Institutes and University of California, San Francisco, CA, 94158, USA. philipp.gut@rd.nestle.com.; Nestlé Research, Institute of Health Sciences, EPFL Innovation Park, 1015, Lausanne, Switzerland. philipp.gut@rd.nestle.com.; Matilainen S; Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki, 00290, Helsinki, Finland.; Meyer JG; Buck Institute for Research on Aging, Novato, CA, 94945, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, 53213, USA.; Pällijeff P; Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki, 00290, Helsinki, Finland.; Richard J; Nestlé Research, Institute of Health Sciences, EPFL Innovation Park, 1015, Lausanne, Switzerland.; Carroll CJ; Genetics Research Centre, Molecular and Clinical Sciences, St. George's, University of London, London, UK.; Euro L; Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki, 00290, Helsinki, Finland.; Jackson CB; Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki, 00290, Helsinki, Finland.; Isohanni P; Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki, 00290, Helsinki, Finland.; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Minassian BA; Program in Genetics and Genome Biology, The Hospital for Sick Children, Institute of Medical Science University of Toronto, Toronto, Ontario, Canada.; Division of Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.; Alkhater RA; Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100, Copenhagen, Denmark.; Civiletto G; Nestlé Research, Institute of Health Sciences, EPFL Innovation Park, 1015, Lausanne, Switzerland.; Parisi A; Nestlé Research, Institute of Health Sciences, EPFL Innovation Park, 1015, Lausanne, Switzerland.; Thevenet J; Nestlé Research, Institute of Health Sciences, EPFL Innovation Park, 1015, Lausanne, Switzerland.; Rardin MJ; Buck Institute for Research on Aging, Novato, CA, 94945, USA.; Amgen, Thousand Oaks, CA, 91320, USA.; He W; Gladstone Institutes and University of California, San Francisco, CA, 94158, USA.; Nishida Y; Gladstone Institutes and University of California, San Francisco, CA, 94158, USA.; Newman JC; Gladstone Institutes and University of California, San Francisco, CA, 94158, USA.; Liu X; Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, NC, USA.; North Carolina State University, Raleigh, NC, 27607, USA.; Christen S; Nestlé Research, Institute of Health Sciences, EPFL Innovation Park, 1015, Lausanne, Switzerland.; Moco S; Nestlé Research, Institute of Health Sciences, EPFL Innovation Park, 1015, Lausanne, Switzerland.; Locasale JW; Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, NC, USA.; Schilling B; Buck Institute for Research on Aging, Novato, CA, 94945, USA. bschilling@buckinstitute.org.; Suomalainen A; Research Program of Stem Cells and Metabolism, Biomedicum Helsinki, University of Helsinki, 00290, Helsinki, Finland. anu.wartiovaara@helsinki.fi.; Neuroscience Center, HiLife, University of Helsinki, 00290, Helsinki, Finland. anu.wartiovaara@helsinki.fi.; HUSlab, Helsinki University Hospital, 00290, Helsinki, Finland. anu.wartiovaara@helsinki.fi.; Verdin E; Gladstone Institutes and University of California, San Francisco, CA, 94158, USA. everdin@buckinstitute.org.; Buck Institute for Research on Aging, Novato, CA, 94945, USA. everdin@buckinstitute.org.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Hikmat O; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Naess K; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.; Engvall M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Klingenberg C; Department of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromso, Norway.; Paediatric Research Group, Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromso, Norway.; Rasmussen M; Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway.; Unit for Congenital and Hereditary Neuromuscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway.; Tallaksen CM; Department of Neurology, Oslo University Hospital, Oslo, Norway.; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.; Brodtkorb E; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.; Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, Trondheim, Norway.; Ostergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; de Coo IFM; Department of Neurology, Medical Spectrum Twente, Enschede, The Netherlands.; Department of Genetics and Cell Biology, University of Maastricht, Maastricht, The Netherlands.; Pias-Peleteiro L; Department of Neurology, Sant Joan de Déu Children's Hospital, Barcelona, Spain.; Isohanni P; Department of Pediatric Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Uusimaa J; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Biocenter Oulu, University of Oulu, Oulu, Finland.; Department of Pediatric Neurology, Clinic for Children and Adolescents, Medical Research Center, Oulu University Hospital, Oulu, Finland.; Darin N; Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.; Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Bindoff LA; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.; Department of Neurology, Haukeland University Hospital, Bergen, Norway.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE