Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Hamilton, EMC"'
Publikováno v:
Nahhas, N, Conant, A, Hamilton, EMC, Curiel, J, Simons, C, van der Knaap, MS & Vanderver, A 2016, TUBB4A-Related Leukodystrophy . in RA Pagon, MP Adam, HH Ardinger & E A (eds), GeneReviews® [Internet] . vol. 1993-2017, University of Washington, Seattle, Seattle (WA), USA . < https://www.ncbi.nlm.nih.gov/books/NBK395611/ >
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10172::3690c59bbbd59056f75c5ebc395aa9e2
https://research.vumc.nl/en/publications/c2d71a53-2f87-4aa1-a88e-31a8b682cbe2
https://research.vumc.nl/en/publications/c2d71a53-2f87-4aa1-a88e-31a8b682cbe2
Autor:
Hamilton EMC; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands., Topaloglu P; Istanbul Faculty of Medicine, Division of Child Neurology, Department of Neurology, Istanbul University, Istanbul, Turkey., Sinha J; Department of Pediatric Neurology, Center for Neurosciences and Research, NH Hospital, RN Tagore International Institute, Kolkata, India., Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Research Hospital, Rome, Italy., Bernard G; Department of Neurology and Neurosurgery, Pediatric and Human Genetics, McGill University, Montreal, Quebec, Canada; Child Health and Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada., Fatemi SA; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland., van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands. Electronic address: ms.vanderknaap@amsterdamumc.nl.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2024 Jan; Vol. 150, pp. 15-16. Date of Electronic Publication: 2023 Oct 21.
Autor:
Passchier EMJ; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Kerst S; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Brouwers E; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Hamilton EMC; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Bisseling Q; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Bugiani M; Department of Pathology, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers location Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands., Kitchen P; School of Biosciences, College of Health and Life Sciences, Aston University, Birmingham, B4 7ET, UK., Unger L; School of Biosciences, College of Health and Life Sciences, Aston University, Birmingham, B4 7ET, UK., Breur M; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Department of Pathology, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Hoogterp L; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., de Vries SI; Department of Axonal Signaling, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, 1105 BA Amsterdam, The Netherlands., Abbink TEM; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Kole MHP; Department of Axonal Signaling, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, 1105 BA Amsterdam, The Netherlands.; Cell Biology, Neurobiology and Biophysics, Department of Biology, Faculty of Science, Utrecht University, 3584 CC Utrecht, The Netherlands., Leurs R; Division of Medicinal Chemistry, Faculty of Science, Amsterdam Institute of Molecular and Life Sciences, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands., Vischer HF; Division of Medicinal Chemistry, Faculty of Science, Amsterdam Institute of Molecular and Life Sciences, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands., Brignone MS; Department of Neuroscience, Istituto Superiore di Sanità, 00161 Rome, Italy., Ambrosini E; Department of Neuroscience, Istituto Superiore di Sanità, 00161 Rome, Italy., Feillet F; Reference Center for Inherited Metabolic Diseases, INSERM UMR_S 1256 NGERE, Nancy University Hospital, Vandoeuvre-lès-Nancy 54511, France., Born AP; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, 2100 Copenhagen, Denmark., Epstein LG; Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA., Mansvelder HD; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Min R; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, location Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Aug 01; Vol. 146 (8), pp. 3444-3454.
Autor:
Slynko I; Division of Medicinal Chemistry, Amsterdam Institute for Molecules, Medicines and Systems, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Nguyen S; Institute for Photonics and Advanced Sensing (IPAS), School of Biological Sciences, The University of Adelaide, Adelaide, SA, Australia., Hamilton EMC; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, the Netherlands., Wisse LE; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, the Netherlands., de Esch IJP; Division of Medicinal Chemistry, Amsterdam Institute for Molecules, Medicines and Systems, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., de Graaf C; Division of Medicinal Chemistry, Amsterdam Institute for Molecules, Medicines and Systems, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Bruning JB; Institute for Photonics and Advanced Sensing (IPAS), School of Biological Sciences, The University of Adelaide, Adelaide, SA, Australia., Proud CG; Hopwood Centre for Neurobiology and Lifelong Health Theme, South Australian Health & Medical Research Institute, Adelaide, SA, Australia.; School of Biological Sciences, The University of Adelaide, Adelaide, SA, Australia., Abbink TEM; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, the Netherlands., van der Knaap MS; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, the Netherlands.; Department of Functional Genomics, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Mar; Vol. 9 (3), pp. e1593. Date of Electronic Publication: 2021 Jan 12.
Autor:
Hamilton EMC; Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands., van der Lei HDW; Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands., Vermeulen G; Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands., Gerver JAM; Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands., Lourenço CM; Clinics Hospital of Ribeirão Preto, University of São Paulo, São Paulo, Brasil., Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD., Mierzewska H; Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland., Gemke RJBJ; Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands., de Vet HCW; Department of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam, The Netherlands., Uitdehaag BMJ; Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands., Lissenberg-Witte BI; Department of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam, The Netherlands., van der Knaap MS; Department of Child Neurology and Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, The Netherlands.
Publikováno v:
Annals of neurology [Ann Neurol] 2018 Aug; Vol. 84 (2), pp. 274-288. Date of Electronic Publication: 2018 Sep 06.
Autor:
Hamilton EMC; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Tekturk P; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Cialdella F; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., van Rappard DF; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Wolf NI; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Yalcinkaya C; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Çetinçelik Ü; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Rajaee A; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Kariminejad A; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Paprocka J; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Yapici Z; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., Bošnjak VM; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands., van der Knaap MS; From the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands. ms.vanderknaap@vumc.nl.
Publikováno v:
Neurology [Neurology] 2018 Apr 17; Vol. 90 (16), pp. e1395-e1403. Date of Electronic Publication: 2018 Mar 21.
Autor:
Dubey M; Department of Child Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, The Netherlands., Brouwers E; Department of Child Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, The Netherlands., Hamilton EMC; Department of Child Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands., Stiedl O; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, The Netherlands.; Department of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, The Netherlands., Bugiani M; Department of Child Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.; Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands., Koch H; Department of Neurology, University of Tübingen, Hertie Institute for Clinical Brain Research, Tübingen, Germany., Kole MHP; Department of Axonal Signaling, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.; Cell Biology, Faculty of Science, Utrecht University, Utrecht, The Netherlands., Boschert U; Translational Innovation Platform Immunology/Neurology, EMD Serono Research & Development Institute, Billerica, MA., Wykes RC; Department of Clinical & Experimental Epilepsy, UCL Institute of Neurology, University College London, London, United Kingdom., Mansvelder HD; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, The Netherlands., van der Knaap MS; Department of Child Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, The Netherlands., Min R; Department of Child Neurology, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, The Netherlands.
Publikováno v:
Annals of neurology [Ann Neurol] 2018 Mar; Vol. 83 (3), pp. 636-649. Date of Electronic Publication: 2018 Mar 13.
Autor:
Hamilton EMC; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Bertini E; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Kalaydjieva L; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Morar B; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Dojčáková D; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Liu J; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Vanderver A; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Curiel J; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Persoon CM; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Diodato D; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Pinelli L; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., van der Meij NL; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Plecko B; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Blaser S; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Wolf NI; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Waisfisz Q; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., Abbink TEM; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada., van der Knaap MS; From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada. ms.vanderknaap@vumc.nl.
Publikováno v:
Neurology [Neurology] 2017 Oct 24; Vol. 89 (17), pp. 1821-1828. Date of Electronic Publication: 2017 Sep 20.