부산대학교 도서관

Malfatti, E.; Caramizaru, A.; Lee, H.; Kim, J.; Shoaito, H.; Pennisi, A.; Fahmi, N.; Escobar-Cedillo, R.; Miranda-Duarte, A.; Nouioua, S.; Benchaabi, O.; Martinez, P.; Castiglioni, C.; Dobrescu, A.; Tajsharghi, H.

Neuromuscular Disorders. 43

Alistair T Pagnamenta; Rauan Kaiyrzhanov; Yaqun Zou; Sahar I Da'as; Reza Maroofian; Sandra Donkervoort; Natalia Dominik; Marlen Lauffer; Matteo P Ferla; Andrea Orioli; Adam Giess; Arianna Tucci; Christian Beetz; Maryam Sedghi; Behnaz Ansari; Rita Barresi; Keivan Basiri; Andrea Cortese; Greg Elgar; Miguel A Fernandez-Garcia; Janice Yip; A Reghan Foley; Nicholas Gutowski; Heinz Jungbluth; Saskia Lassche; Tim Lavin; Carlo Marcelis; Peter Marks; Chiara Marini-Bettolo; Livija Medne; Ali-Reza Moslemi; Anna Sarkozy; Mary M Reilly; Francesco Muntoni; Francisca Millan; Colleen C Muraresku; Anna C Need; Andrea H Nemeth; Sarah B Neuhaus; Fiona Norwood; Marie O'Donnell; Mary O’Driscoll; Julia Rankin; Sabrina W Yum; Zarazuela Zolkipli-Cunningham; Isabell Brusius; Gilbert Wunderlich; John C Ambrose; Prabhu Arumugam; Emma L Baple; Marta Bleda; Freya Boardman-Pretty; Jeanne M Boissiere; Christopher R Boustred; Helen Brittain; Mark J Caulfield; Georgia C Chan; Clare E H Craig; Louise C Daugherty; Anna de Burca; Andrew Devereau; Rebecca E Foulger; Tom Fowler; Pedro Furió-Tarí; Joanne M Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James E Holman; Tim J P Hubbard; Kristina ibáñez; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Kay Lawson; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Joanne Mason; Ellen M McDonagh; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Peter O’Donovan; Chris A Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; Dimitris Polychronopoulos; John Pullinger; Tahrima Rahim; Augusto Rendon; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Katherine R Smith; Samuel C Smith; Alona Sosinsky; William Spooner; Helen E Stevens; Alexander Stuckey; Razvan Sultana; Mélanie Tanguy; Ellen R A Thomas; Simon R Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A Watters; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Mert Karakaya; Brunhilde Wirth; Khalid A Fakhro; Homa Tajsharghi; Carsten G Bönnemann; Jenny C Taylor; Henry Houlden

Brain
Brain, 144, 2, pp. 584-600

El-Dessouky SH; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Sharaf-Eldin WE; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Aboulghar MM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.; Mousa HA; Maternal and Fetal Medicine Unit, University Hospitals of Leicester NHS Trust, UK.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Senousy SM; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Gaafar HM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.; Ebrashy A; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.; Shikhah AZ; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.; Abdelfattah AN; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Ezz-Elarab A; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.; Ateya MI; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.; Hosny A; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.; Youssef MA; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.; Abdella R; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.; Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Matsa LS; Genomic Precision Diagnostic Department, Igenomix, New Delhi, India.; Abdelaziz N; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Saad AK; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Alavi S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skövde, Skövde, Sweden.; Abdalla EM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Dahl-Halvarsson, Martin; Olive, Montse; Pokrzywa, Malgorzata; Ejeskär, Katarina; Palmer, Ruth H.; Uv, Anne Elisabeth; Tajsharghi, Homa

Proceedings of the National Academy of Sciences of the United States of America, 2018 Jul 01. 115(28), E6566-E6575.

Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Harrer P; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Kopajtich R; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.; Achleitner MT; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Badmann S; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Brugger M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Brunet T; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bonne G; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris 75013, France.; Codina M; Clinical and Molecular Genetics Area, Vall D'Hebron Hospital Medicine Genetics Group, Vall D'Hebron Research Institute (VHIR), Barcelona 08035, Spain.; Ebner L; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Eshraghi P; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 9177949025, Iran.; Eyring K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Farhat AS; Neonatal Research Center, Mashhad University of Medical Sciences, Mashhad 9177949025, Iran.; Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Graf E; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Marcé-Grau A; Department of Pediatric Neurology, Vall D'Hebron University Hospital, Vall D'Hebron Hospital Campus, Barcelona 08035, Spain.; Hahn A; Department of Neonatology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Karimiani EG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Manel V; Service de Médecine Physique et Réadaptation Pédiatrique, L'Escale, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Groupement Est, Bron 69500, France.; Mayerhanser K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Nectoux J; Service de Médecine Physique et Réadaptation Pédiatrique, L'Escale, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Groupement Est, Bron 69500, France.; Nelson I; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris 75013, France.; Phadke R; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.; Prokisch H; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715753, Iran.; Saparov A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Helmholtz Association, Munich School for Data Science (MUDS), Helmholtz Zentrum Munich, Munich 85764, Germany.; Schänzer A; Institute of Neuropathology, Justus Liebig University Giessen, Giessen 35392, Germany.; Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Schmidt J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen 37073, Germany.; Schuler R; Department of Neonatology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Sewry C; Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance, Manchester M6 8HD, UK.; Wolfson Centre for Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry SY10 7AG, UK.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715753, Iran.; Slanz S; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Smirnov D; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Sukenik-Halevy R; Genetic Institute, Meir Medical Center, Kfar Saba 4428164, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 69978, Israel.; Tajsharghi H; Division of Biomedicine, School of Health Sciences, University of Skovde, Skovde 541 28, Sweden.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 9177949025, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran.; Trujillano L; Clinical and Molecular Genetics Area, Vall D'Hebron Hospital Medicine Genetics Group, Vall D'Hebron Research Institute (VHIR), Barcelona 08035, Spain.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.; Yaou RB; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris 75013, France.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.; Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Institute for Advanced Study, Technical University of Munich, Garching 85748, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center, Göttingen 37075, Germany.; Kornak U; Institute of Human Genetics, University Medical Center Göttingen, Göttingen 37073, Germany.; Goméz-Andrés D; Department of Pediatric Neurology, Vall D'Hebron University Hospital, Vall D'Hebron Hospital Campus, Barcelona 08035, Spain.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Winkelmann J; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich 81377, Germany.; Roos A; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Department of Neurology, Heinrich Heine University Düsseldorf, Düsseldorf 40225, Germany.; Division of Neurology, Department of Medicine, Children's Hospital of Eastern Ontario Research Institute, the Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada K1H 8L6.; Distelmaier F; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf 40225, Germany.; Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Wagner M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich 80337, Germany.

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

Kaiyrzhanov R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Department of Neurology, South Kazakhstan Medical Academy, Shymkent 160019, Kazakhstan.; Thompson K; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Mukushev A; Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215-5400, USA.; Zharylkassyn A; The Institute of Childhood Neurology, Almaty 050000, Kazakhstan.; Prasad C; Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, ON, Canada N6A 5W9.; Ghayoor Karimiani E; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Molecular and Clinical Sciences Institute, St. George's University of London, London SW17 0RE, UK.; Alvi JR; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Niyazov D; Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.; Alahmad A; Molecular Genetics Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd 9413813965, Iran.; Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde 541 28, Sweden.; Albash B; Kuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait City 80901, Kuwait.; Alaqeel A; Kuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait City 80901, Kuwait.; Charif M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda 60000, Morocco.; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda 60000, Morocco.; Genetic and Immuno-Cell Therapy Team, Mohammed First University, Oujda 60000, Morocco.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.; Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran 14197 33151, Iran.; Kalantar SM; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Lenaers G; Angers University, MitoLab Team, MitoVasc Unit, CNRS UMR6015, INSERM U1083, SFR ICAT, Angers 49035, France.; Department of Neurology, University Hospital of Angers, Angers 49035, France.; Vahidi Mehrjardi MY; Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560 029, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560 029, India.; Mirabutalebi SH; Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Carere DA; GeneDx Inc., Gaithersburg, MD 20877, USA.; Movahedinia M; Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd 8916188635, Iran.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Elhossini RM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Napier M; GeneDx Inc., Gaithersburg, MD 20877, USA.; Belanger-Quintana A; Servicio de Pediatría, Enfermedades Metabólicas Hereditarias, Hospital Universitario Ramón y Cajal, Madrid 28034, Spain.; Prasad AN; Division of Pediatric Neurology, Department of Pediatrics, Western University, London, ON, Canada N6A 5W9.; Jakobczyk J; Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, ON, Canada N6A 5W9.; Roubertie A; Department of Neuropaediatrics, Gui de Chauliac Hospital, Montpellier University Hospital, Institut des Neurosciences, INSERM U 1298, Montpellier 34091, France.; Rupar T; Department of Pediatrics, University of Western Ontario, London, ON, Canada N6A5W9.; Departments of Biochemistry, Pathology and Laboratory Medicine, University of Western Ontario, London, ON, Canada N6A5W9.; Sultan T; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 91778 99191, Iran.; Sazanov L; Institute of Science and Technology Austria, Klosterneuburg A-3400, Austria.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, UK.; Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Tafakhori A; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.; Sarvestani Z; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Tajsharghi H; Division Biomedicine and Public Health,School of Health and Education, University of Skovde, Skovde, SE-541 28, Sweden.; Seo GH; Division of Medical Genetics, 3billion Inc, Seoul, South Korea.; Ryu SW; Division of Medical Genetics, 3billion Inc, Seoul, South Korea.; Heydari Havadaragh S; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran. sanazheydari400@gmail.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

Osborn, D. P. S.; Emrahi, L.; Clayton, J.; Tabrizi, M. T.; Wan, A. Y. B.; Maroofian, R.; Yazdchi, M.; Garcia, M. L. E.; Galehdari, H.; Hesse, Camilla; Shariati, G.; Mazaheri, N.; Sedaghat, A.; Goullee, H.; Laing, N.; Jamshidi, Y.; Tajsharghi, H.

Genetics in Medicine. 23(4):787-792

Dafsari HS; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Department of Pediatric Neurology, Evelina London Children's Hospital, Guy's & St Thomas NHS Foundation Trust, London, UK.; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Deneubourg C; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Singh K; UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Suprenant Z; Vici Syndrome Foundation, Inc, Silver Spring, Maryland, USA.; Kho AL; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Ingham NJ; Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Steel KP; Wolfson Sensory Pain and Regeneration Centre, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Sheshadri P; UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK.; Baur F; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Hentrich L; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Gerisch B; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Alves C; Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Siddiqui A; Department of Radiology, Guy's and Saint Thomas' Hospitals NHS Trust, London, UK.; Dafsari HS; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Salari M; Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Lang AE; Edmond J Safra Program in Parkinson's Disease, Krembil Brain Institute, University Health Network and the Department of Medicine, University of Toronto, Toronto, ON, Canada.; Harris M; Vici Syndrome Foundation, Inc, Silver Spring, Maryland, USA.; Abdelaleem A; Department of Neurology, Weill Cornell Medicine Qatar, Education City, Doha, Qatar.; Medical Molecular Genetics, Institute Human Genetics and Genome Research, National Research Centre, Dokki, Egypt.; Sadeghian S; Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.; Azizimalamiri R; Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.; Galehdari H; Narges Medical Genetics and Prenatal Diagnosis Laboratory, 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.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Zeighami J; Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Calame D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Boehnke A; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Clark GD; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratories, Houston, TX, USA.; Mohila CA; Department of Pathology, Department of Pathology and Immunology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.; Steel D; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS-Institute of Child Health, London, UK.; Chopra S; Indraprastha Apollo Hospital, New Delhi, India.; Sharma S; Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.; Kohlschmidt N; Institute for Clinical Genetics and Tumour Genetics, Bonn, Germany.; Laboratoire national de santé, National Center of Genetics, Dudelange, Luxembourg.; Patzer S; Department of Pediatrics, Krankenhaus St. Elisabeth und St. Barbara, Halle (Saale), Germany.; Saffari A; Division of Child Neurology and Metabolic Medicine, Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Medical Faculty Heidelberg, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.; Ebrahimi-Fakhari D; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Çavdartepe BE; Department of Medical Genetics, Konya City Hospital, Konya, Turkey.; Chang IJ; Department of Pediatrics, Division of Medical Genetics, University of California at San Francisco, San Francisco, CA, USA.; Beckman E; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Peters R; Christliches Kinderhospital Osnabrück, Osnabrück, Germany.; Fennell AP; Monash Genetics, Monash Health, Melbourne, Vic, Australia.; Department of Paediatrics, Monash University, Melbourne, Vic, Australia.; Lo B; Research Branch, Sidra Medicine, Doha; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.; Baethmann M; Department of Pediatrics, Hospital Dritter Orden, Munich, Germany.; Elmslie F; St George's University Hospitals NHS Foundation Trust, London, UK.; Joost K; Faculty of Medicine, University of Tartu, Tartu, Estonia.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Cochin, India.; Yesodharan D; Department of Metabolic and Genetic Disorders, Ziv, Medical Center, Safed, Israel.; Mandel H; Department of Metabolic and Genetic Disorders, Ziv, Medical Center, Safed, Israel.; Kimball A; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.; Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.; Mignot C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, Paris, France.; Keren B; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, Paris, France.; Laugel V; Service de Pédiatrie, Centre Hospitalier Universitaire (CHU) de Strasbourg-Hautepierre, Strasbourg, France.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Devadathan K; Department of Pediatric Neurology, Government Medical College, Thiruvananthapuram, India.; van Berkestijn FMC; Department of Pediatric Neurology, University Medical Center Utrecht, Utrecht, the Netherlands.; Silwal A; St Bart's Health NHS Trust, London, UK.; Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Verma S; Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA.; Karim MY; Department of Pathology, Sidra Medicine, College of Medicine, Qatar University, Doha, Qatar.; Boubidi C; Department of Pediatrics A, Hussein Dey University Hospital Center, University of Algiers 1, Algiers, Algeria.; Aziz M; Department of Pediatric Neurology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; ElGhazali G; Department of Medical Microbiology and Immunology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Mattas L; Stanford Children's Hospital, Palo Alto, CA, USA.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Alavi S; Palindrome, Isfahan, Iran.; Nouri N; Karyogen Lab, Isfahan, Iran.; Noruzinia M; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Kavousi S; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.; Kamath A; Cardiff and Vale UHB-AWMGS, Cardiff, UK.; Jayawant S; Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Saneto R; Neuroscience Institute, Center for Integrated Brain Research, Department of Neurology/Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, WA, USA.; Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.; Kart PO; Department of Pediatrics Neurology, Karadeniz Technical University, Trabzon, Turkey.; Cansu A; Genetics Department, Nantes University Hospital, Nantes, France.; Joubert M; Genetics Department, Nantes University Hospital, Nantes, France.; Beneteau C; Genetics Department, Nantes University Hospital, Nantes, France.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, Skovde, Sweden.; Scardamaglia A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Vallian S; Department of Cell and Molecular Biology & Microbiology, Faculty of Science and Technology, University of Isfahan, Isfahan, Iran.; Hız S; Faculty of Medicine, Pediatric Neurology Department, Dokuz Eylül University, Izmir, Turkey.; Shoeibi A; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Boostani R; Department of Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Alsaleh NS; Department of Genetics and Precision Medicine, King Abdullah Specialized Children's Hospital, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Porter J; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.; Attié-Bitach T; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Marzin P; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Paris, France.; Wicher D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Gold JI; Division of Medical Genetics, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, NY, USA.; Schuler E; Division of Child Neurology and Metabolic Medicine, Department of Pediatrics I, Center for Pediatrics and Adolescent Medicine, Medical Faculty Heidelberg, University Hospital Heidelberg, Heidelberg University, Heidelberg, Germany.; Kashgari A; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Alanazi RF; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Eyaid W; Department of Clinical Genetics and Precision Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Engelen M; Amsterdam Leukodystrophy Center, Department of Pediatric Neurology, Emma Children's Hospital, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.; Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, Research Institute Gastroenterology, Endocrinology & Metabolism (AGEM), University of Amsterdam, Amsterdam, the Netherlands.; Stüve B; Department for Neuropediatrics, DRK Children's Hospital Siegen, Siegen, Germany.; Li Y; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Lower Saxony, Göttingen, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), Partner Site Lower Saxony, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines To Networks of Excitable Cells' (MBExC), University of Göttingen; German Center for Child and Adolescent Health (DZKJ), Partner Site Göttingen, Göttingen, Germany.; Monje MHG; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Krainc D; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Mencacci NE; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Argilli E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, CA, USA.; Sherr E; Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, CA, USA.; Jamshidi Y; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.; Cheung YWS; Life Sciences Institute, Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, BC, Canada.; Karin I; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Bauer P; CENTOGENE GmbH, Rostock, Germany.; Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Kurian MA; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL GOS-Institute of Child Health, London, UK.; Dötsch J; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; von Kleist-Retzow JC; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Wagner M; Institute of Human Genetics, School of Medicine and Health, Technische Universität München, Munich, Germany.; Yip C; Life Sciences Institute, Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, BC, Canada.; Roos A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf, Germany.; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Carsetti R; Immunology Research Area, B Cell Unit, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.; Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Gautel M; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Duchen MR; UCL Consortium for Mitochondrial Research and Department of Cell and Developmental Biology, University College London, London, UK.; Antebi A; Max Planck Institute for Biology of Aging and Cologne Excellence Cluster for Aging-associated Diseases, Cologne, Germany.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Fanto M; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; Jungbluth H; Department of Pediatric Neurology, Evelina London Children's Hospital, Guy's & St Thomas NHS Foundation Trust, London, UK.; Randall Center for Cell and Molecular Biophysics, Muscle Signaling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.

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

Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands. Electronic address: j.dekker.1@erasmusmc.nl.; Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Departments of Pediatrics and Neurology, University of Washington, Seattle, WA 98105, USA.; Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Washington C; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA.; Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Mosca-Boidron AL; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France.; Perrin L; Département de Génétique, Hôpital Robert Debré, 75019 Paris, France.; Auvin S; Université Paris-Cité, INSERM NeuroDiderot, APHP, Robert Debré University Hospital, Pediatric Neurology Department, CRMR Epilepsies rares, EpiCare member, Institut Universitaire de France, (IUF), Paris, France.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Gleeson JG; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Meave N; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Wallace C; Rady Children's Institute for Genomic Medicine, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92037, USA.; Nambot S; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France.; Delanne J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHUTRANSLAD - CHU de Dijon, Dijon, France.; Ruggiero SM; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig I; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Leventer RJ; Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Melbourne, Parkville VIC 3052, Australia.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO 63110, USA.; Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.; Prakash S; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA.; Neilson DE; Phoenix Children's Hospital, Department of Genetics & Metabolism, 1919 East Thomas Road, Rosenberg Building, Suite 304, Phoenix, AZ 85016, USA; University of Arizona College of Medicine-Phoenix, Department of Child Health, 475 N. 5th Street, Phoenix, AZ 85004, USA.; Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Sferra A; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy.; Aiello C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Brockmann K; Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Children's Hospital, University Medical Center, Göttingen, Germany.; Kuranov AB; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Kaulfuss S; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.; Basit S; Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Alluqmani M; Department of Neurology, College of Medicine, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Almatrafi A; Department of Biology, College of Science, Taibah University, Almadinah Almunawwarah, Saudi Arabia.; Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Guimond C; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Mohammed F; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.; Sharma P; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.; Goel D; Genomics and Molecular Medicine, CSIR - Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India; Department of Pharmacology, School of Pharmaceutical Education & Research (SPER), Jamia Hamdard, New Delhi 110062, India.; Wirth T; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.; Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France; Centre de Référence des Maladies Neurogénétiques Rares, Strasbourg, France.; Bahena P; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Koparir A; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Kolokotronis K; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Vona B; Institute of Human Genetics University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany.; Haaf T; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Kunstmann E; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Sczakiel HL; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany; RG Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 10117 Berlin, Germany; BIH Biomedical Innovation Academy, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.; Misra-Isrie M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Stolerman ES; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.; Mergler S; Medical Department ASVZ, Care and Service Center for People with Intellectual Disabilities, Sliedrecht, the Netherlands; Department of General Practice and Intellectual Disability Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Zarate YA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Tajsharghi H; School of Health Sciences, Biomedicine Division, University of Skovde, Skovde, Sweden.; Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Cappuccio G; Department of Pediatrics -Neurology, Baylor College of Medicine, Houston, TX 77030, USA.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.; Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Swols DM; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.; Tekin M; Division of Clinical and Translational Genetics, Dr. John T Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.; Upadia J; Hayward Genetics Center, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA, USA.; Martin DM; Departments of Pediatrics and Human Genetics, the University of Michigan Medical School, Ann Arbor, MI, USA.; Craven D; Department of Pediatric Pulmonology, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.; Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.; van de Pol LA; Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit location, Amsterdam, the Netherlands.; D'Arco F; Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; Margot H; Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.; Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Yousefi S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; van Veghel-Plandsoen MM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.; Aronica E; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands; Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, the Netherlands.; Anink J; Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Department of (Neuro)Pathology, Amsterdam, the Netherlands.; Rogers SL; Department of Biology and Integrative Program for Biological and Genome Sciences, University of North Carolina, Chapel Hill, NC 27599, USA.; Slep KC; Department of Biology, University of North Carolina, Chapel Hill, NC 27599, USA.; Doherty D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN 55455, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Chatron, N.; Becker, F.; Morsy, H.; Schmidts, M.; Hardies, K.; Tuysuz, B.; Roselli, Sandra; Najafi, M.; Alkaya, D. U.; Ashrafzadeh, F.; Nabil, A.; Omar, T.; Maroofian, R.; Karimiani, E. G.; Hussien, H.; Kok, F.; Ramos, L.; Gunes, N.; Bilguvar, K.; Labalme, A.; Alix, E.; Sanlaville, D.; de Bellescize, J.; Poulat, A. L.; Moslemi, Ali-Reza; Lerche, H.; May, P.; Lesca, G.; Weckhuysen, S.; Tajsharghi, H.

Brain. 143(5):1447-1461

Namdari M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.; Ansari B; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Basiri K; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Azimi ES; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Hosseinzadeh M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.; Bahreini A; Karyogen Medical Genetics Laboratory, Isfahan, Iran.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Nouri N; Karyogen Medical Genetics Laboratory, Isfahan, Iran.; Sedghi M; Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.; Fattahpur S; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.; Amoli MM; Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.; Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, Skovde, Sweden.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Sedghi, M.; Moslemi, Ali-Reza; Olive, M.; Etemadifar, M.; Ansari, B.; Nasiri, J.; Emrahi, Leila; Mianesaz, H. R.; Laing, N. G.; Tajsharghi, H.

Annals of Clinical and Translational Neurology. 6(11):2197-2204

Kariminejad, A.; Szenker-Ravi, E.; Lekszas, C.; Tajsharghi, H.; Moslemi, Ali-Reza; Naert, T.; Tran, H. T.; Ahangari, F.; Rajaei, M.; Nasseri, M.; Haaf, T.; Azad, A.; Superti-Furga, A.; Maroofian, R.; Ghaderi-Sohi, S.; Najmabadi, H.; Abbaszadegan, M. R.; Vleminckx, K.; Nikuei, P.; Reversade, B.

American Journal of Human Genetics. 105(6):1294-1301

Nilipour, Y.; Nafissi, S.; Tjust, Anton E.; Ravenscroft, G.; Hossein Nejad Nedai, H.; Taylor, R. L.; Varasteh, V.; Pedrosa Domellöf, Fatima; Zangi, M.; Tonekaboni, S. H.; Olivé, M.; Kiiski, K.; Sagath, L.; Davis, M. R.; Laing, N. G.; Tajsharghi, H.

European Journal of Neurology. 25(6):841-847

Kariminejad, A.; Dahl-Halvarsson, Martin; Ravenscroft, G.; Afroozan, F.; Keshavarz, E.; Goullee, H.; Davis, M. R.; Zonooz, M. F.; Najmabadi, H.; Laing, N. G.; Tajsharghi, H.

Brain. 140(11):2851-2859

Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; Lauffer, M; Ferla, MP; Orioli, A; Giess, A; Tucci, A; Beetz, C; Sedghi, M; Ansari, B; Barresi, R; Basiri, K; Cortese, A; Elgar, G; Fernandez-Garcia, MA; Yip, J; Foley, AR; Gutowski, N; Jungbluth, H; Lassche, S; Lavin, T; Marcelis, C; Marks, P; Marini-Bettolo, C; Medne, L; Moslemi, A-R; Sarkozy, A; Reilly, MM; Muntoni, F; Millan, F; Muraresku, CC; Need, AC; Nemeth, AH; Neuhaus, SB; Norwood, F; O'Donnell, M; O'Driscoll, M; Rankin, J; Yum, SW; Zolkipli-Cunningham, Z; Brusius, I; Wunderlich, G; Genomics England Research Consortium; Karakaya, M; Wirth, B; Fakhro, KA; Tajsharghi, H; Bönnemann, CG; Taylor, JC; Houlden, H

Malfatti, E.; Shoaito, H.; Souvannanorath, S.; Authier, F.-J.; Pennisi, A.; Caramizaru, A.; Dumitrescu, A.; Dobrescu, A.; Lee, H.; Kim, J.; Fahmy, N.; Escobar-Cedillo, R.E.; Miranda-Duarte, A.; Luna-Angulo, A.B.; Nouioua, S.; Benchaabi, O.; Tazir, M.; Hallal, S.; Martinez, P.; Castiglioni, C.; Tajsharghi, H.

In: Clinical Genetics. (Clinical Genetics, September 2025, 108(3):318-322)

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

Pagnamenta, AT; Diaz-Gonzalez, F; Banos-Pinero, B; Ferla, MP; Toosi, MB; Calder, AD; Karimiani, EG; Doosti, M; Wainwright, A; Wordsworth, P; Bailey, K; Ejeskär, K; Lester, T; Maroofian, R; Heath, KE; Tajsharghi, H; Shears, D; Taylor, JC; Genomics England Research Consortium

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Consejería de Sanidad de la Comunidad de Madrid