Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Weckhuysen, Sarah"'
Autor:
Chen C; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Ziobro J; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Robinson-Cooper L; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Hodges SL; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Chen Y; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Edokobi N; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Lopez-Santiago L; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Habig K; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Moore C; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Minton J; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Bramson S; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Scheuing C; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Daddo N; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Štěrbová K; Department of Pediatric Neurology, Charles University and Motol Hospital, V Úvalu 84, 150 06 Prague 5, Czech Republic., Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Universiteitsplein 1 B-2610 Antwerpen, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Universiteitsplein 1 B-2610 Antwerpen, Belgium.; Department of Neurology, Antwerp University Hospital, Universiteitsplein 1B-2610 Antwerpen, Belgium.; µNEURO Research Centre of Excellence, University of Antwerp, Universiteitsplein 1B-2610 Antwerpen, Belgium., Parent JM; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Michigan Neuroscience Institute, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Neurology, VA Ann Arbor Healthcare System, Ann Arbor, MI 48105, USA., Isom LL; Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Publikováno v:
Brain communications [Brain Commun] 2023 Oct 20; Vol. 5 (6), pp. fcad283. Date of Electronic Publication: 2023 Oct 20 (Print Publication: 2023).
Autor:
Martins Custodio H; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK., Clayton LM; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK., Bellampalli R; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK., Pagni S; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK., Silvennoinen K; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.; Kuopio Epilepsy Center, Neurocenter, Kuopio University Hospital, Kuopio 70210, Finland., Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK., Brunklaus A; Paediatric Neuroscience Research Group, Royal Hospital for Children, Glasgow G51 4TF, UK.; Institute of Health and Wellbeing, University of Glasgow, Glasgow G12 8TB, UK., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCSS, University of Florence, 50139 Florence, Italy., Koeleman BPC; Department of Genetics, University Medical Centre Utrecht, 3584CX Utrecht, The Netherlands., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, DK-4293 Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark., Scheffer IE; Epilepsy Research Centre, Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, VIC 3084, Australia.; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Centre for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp 2650, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp 2650, Belgium.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp 2610, Belgium., Zara F; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy., Zuberi S; Paediatric Neuroscience Research Group, Royal Hospital for Children, Glasgow G51 4TF, UK.; Institute of Health and Wellbeing, University of Glasgow, Glasgow G12 8TB, UK., Kuchenbaecker K; University College London Division of Psychiatry, London W1T 7BN, UK., Balestrini S; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.; Neuroscience Department, Meyer Children's Hospital IRCSS, University of Florence, 50139 Florence, Italy., Mills JD; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.; Amsterdam UMC, University of Amsterdam, Department of (Neuro)Pathology, Amsterdam Neuroscience, 1105 AZ Amsterdam, The Netherlands., Sisodiya SM; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Sep 01; Vol. 146 (9), pp. 3885-3897.
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A.
Autor:
Van Lent J; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born Bunge, and Translational Neurosciences, Faculty of Medicine, University of Antwerp, Antwerp 2610, Belgium., Vendredy L; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born Bunge, and Translational Neurosciences, Faculty of Medicine, University of Antwerp, Antwerp 2610, Belgium., Adriaenssens E; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born Bunge, and Translational Neurosciences, Faculty of Medicine, University of Antwerp, Antwerp 2610, Belgium., Da Silva Authier T; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born Bunge, and Translational Neurosciences, Faculty of Medicine, University of Antwerp, Antwerp 2610, Belgium., Asselbergh B; Neuromics Support Facility, VIB Center for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Neuromics Support Facility, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium., Kaji M; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, Antwerp 2610, Belgium., Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, University of Antwerp, Antwerp 2610, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp 2610, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp 2610, Belgium., Van Den Bosch L; Department of Neurosciences, Experimental Neurology, Leuven Brain Institute, KU Leuven-University of Leuven, Leuven 3000, Belgium.; VIB-Center for Brain & Disease Research, Laboratory of Neurobiology, Leuven 3000, Belgium., Baets J; Laboratory of Neuromuscular Pathology, Institute Born Bunge, and Translational Neurosciences, Faculty of Medicine, University of Antwerp, Antwerp 2610, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp 2610, Belgium., Timmerman V; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp 2610, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born Bunge, and Translational Neurosciences, Faculty of Medicine, University of Antwerp, Antwerp 2610, Belgium.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Jul 03; Vol. 146 (7), pp. 2885-2896.
Autor:
Xian J; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Neuroscience Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Parthasarathy S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Biology, The College of New Jersey, Ewing Township, NJ 08618, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Balagura G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy., Fitch E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Gan J; Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China., Ganesan S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Kaufman MC; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Ellis CA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Lewis-Smith D; Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne NE2 4HH, UK.; Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK., Galer P; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Center for Neuroengineering and Therapeutics, University of Pennsylvania, Philadelphia, PA 19104, USA., Cunningham K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., O'Brien M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Lewis Katz School of Medicine, Temple University, Philadelphia, PA 19140, USA., Cosico M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Baker K; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK., Darling A; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Veiga de Goes F; Department of Pediatrics and Pediatric Neurology Laboratory, Instituto Fernandes Figueira, Rio de Janeiro 22250-020, Brazil., El Achkar CM; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Doering JH; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Furia F; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., García-Cazorla Á; Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Gardella E; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., Geertjens L; Department of Child and Adolescent Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Klein C; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Kolesnik-Taylor A; MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, UK., Lammertse H; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Lee J; Department of Pediatrics, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea., Mackie A; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Misra-Isrie M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Olson H; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sexton E; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sheidley B; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Smith L; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sotero L; Department of Pediatrics and Pediatric Neurology Laboratory, Instituto Fernandes Figueira, Rio de Janeiro 22250-020, Brazil., Stamberger H; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium., Syrbe S; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Thalwitzer KM; Division of Pediatric Epileptology, Centre for Pediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., van Berkel A; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., van Haelst M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Yuskaitis C; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Weckhuysen S; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Prosser B; Department of Physiology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Son Rigby C; STXBP1 Foundation, Apex, NC 27539, USA., Demarest S; Departments of Pediatrics and Neurology, Children's Hospital Colorado, Aurora, CO 80045, USA., Pierce S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zhang Y; Department of Pediatrics, Beijing University First Hospital, Beijing, China., Møller RS; Department of Clinical Neurophysiology, Danish Epilepsy Center Filadelfia, Dianalund 4293, Denmark., Bruining H; Department of Child and Adolescent Psychiatry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Poduri A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Verhage M; Department of Human Genetics, Center for Neurogenomics and Cognitive Research (CNCR), Amsterdam University Medical Center, de Boelelaan 1085, 1081 HV Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'G. Gaslini' Institute, Genoa, Italy., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2022 Jun 03; Vol. 145 (5), pp. 1668-1683.
Autor:
Manivannan SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston 77030, USA., Roovers J; Neurogenetics Group, VIB Centre for Molecular Neurology, Antwerp 2610, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium., Smal N; Applied and Translational Neurogenomics Group, VIB Centre for Molecular Neurology, VIB, Antwerp 2610, Belgium., Myers CT; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology St. Jude Children's Research Hospital, Memphis, TN 30105, USA., Turkdogan D; Division of Child Neurology, Department of Paediatrics, Marmara University, Faculty of Medicine, Turkey., Roelens F; Child Neurology, AZ Delta, Roeselare, Belgium., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston 77030, USA., Chung HL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston 77030, USA., Scholz T; Institute of Human Genetics, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany., Hermann K; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany., Caglayan HS; Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey., Stamberger H; Applied and Translational Neurogenomics Group, VIB Centre for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp 2650, Belgium., Mefford H; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology St. Jude Children's Research Hospital, Memphis, TN 30105, USA., de Jonghe P; Neurogenetics Group, VIB Centre for Molecular Neurology, Antwerp 2610, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp 2650, Belgium., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Centre for Molecular Neurology, VIB, Antwerp 2610, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp 2650, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp 2650, Belgium.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp 2610, Belgium., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Development, Disease Models & Therapeutics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA.; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2022 Jun 03; Vol. 145 (5), pp. 1684-1697.
Autor:
Bonardi CM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Department of Woman's and Child's Health, University Hospital of Padua, 35100 Padua, Italy., Heyne HO; Finnish Institute for Molecular Medicine: FIMM, University of Helsinki, 00290 Helsinki, Finland.; Program for Medical and Population Genetics, Broad Institute of MIT and Harvard, 02142 Cambridge, MA, USA., Fiannacca M; Radiology Department, University of Genoa, 16126 Genoa, Italy., Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Gardella E; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, 8025 BV, The Netherlands., Olofsson K; Department of Pediatric Neurology, Danish Epilepsy Center, 4293 Dianalund, Denmark., Lesca G; Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, 69008 Lyon, France., Verbeek N; Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands., Stamberger H; Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium.; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Striano P; IRCCS 'G. Gaslini' Institute, University of Genoa, 16147 Genoa, Italy., Zara F; IRCCS 'G. Gaslini' Institute, University of Genoa, 16147 Genoa, Italy., Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, 75013 Paris, France., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Buono S; Neurology Division, Hospital of National Relevance (AORN), Santobono Pausilipon, 80122 Naples, Italy., Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, F-75013, Paris, France., Coppola A; Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, 80138 Naples, Italy., Weckhuysen S; Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium.; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Schoonjans AS; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Sarret C; Service de Neuropédiatrie, CHU de Clermont-Ferrand, 6310 Clermont-Ferrand, France., Baumgartner T; Department of Epileptology, University of Bonn, D-53105 Bonn, Germany., Muhle H; Department of Neuropediatrics, University Medical Center Schleswig Holstein, 24105 Kiel, Germany., Portes VD; Neuropaediatrics Department, Femme Mère Enfant Hospital, 69500 Lyon, France., Toulouse J; Epileptology, Sleep Disorders and Functional Pediatric Neurology CHU Lyon, 69500 Bron, France., Nougues MC; Neuropaediatrics Department, Hospital Armand Trousseau, APHP, 75012 Paris, France., Rossi M; Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France.; Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, GENDEV Team, Claude Bernard Lyon 1 University, 69675 Bron, France., Demarquay G; Service de neurologie fonctionnelle et épileptologie, Neurological Hospital, 69677 Bron, France.; Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, NeuroPain, 69677 Bron, France., Ville D; Pediatric Neurology Department, Lyon University Hospital, 69500 Bron, France., Hirsch E; Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, 67100 Strasbourg, France., Maurey H; Department of Pediatric Neurology, Hopital Bicêtre, Le Kremlin-Bicêtre, 94270 Paris, France., Willems M; Department of Clinical Genetics, Arnaud de Villeneuve Hospital, 34090 Montpellier, France., de Bellescize J; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Hospices Civils de Lyon, 69677 Bron, Lyon, France., Altuzarra CD; Department of Pediatrics, St. Jacques Hospital, 25000 Besançon, France., Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, 13005 Marseille, France., Bartolomei F; Epileptology Department, Timone Hospital, Public Assistance Hospitals of Marseille, Aix-Marseille University, 13005 Marseille, France., Picard F; Department of Clinical Neurosciences, University Hospitals and Faculty of Medicine, CH-1211 Geneva, Switzerland., Hornemann F; Centre of Pediatric Research, Hospital for Children and Adolescents, 04103 Leipzig, Germany., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center (Radboudumc), 6525 GA Nijmegen, The Netherlands., Kroes HY; Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands., Reale C; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Dibbens L; Epilepsy Research Group, UniSA Clinical and Health Sciences, University of South Australia, and Australian Centre for Precision Health, SA 5001 Adelaide, Australia., Bearden DR; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY14642, USA., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Dec 31; Vol. 144 (12), pp. 3635-3650.
Autor:
Weckhuysen S; Applied and Translational Genomics Group, VIB-Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skovde, Skovde, Sweden.
Publikováno v:
Brain : a journal of neurology [Brain] 2020 Dec 05; Vol. 143 (11), pp. e92.
Autor:
Mochel F; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France.; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique and Centre de Référence Neurométabolique Adulte, F-75013, Paris, France., Rastetter A; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France., Ceulemans B; Division of Paediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Yang S; GeneDx, Gaithersburg, MD 20877, USA., Shinde DN; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA, USA., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Lopergolo D; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mari F; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Benetti E; Department of Medical Biotechnologies, University of Siena, Siena, Italy., Canitano R; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy., Waisfisz Q; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Plomp AS; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Huisman SA; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.; Prinsenstichting, Purmerend, The Netherlands., Wilson GN; Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, Texas, USA., Cathey SS; Greenwood Genetic Center, Greenwood, South Carolina, 29646, USA., Louie RJ; Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA., Gaudio DD; Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA., Waggoner D; Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA., Kacker S; Department of Pediatrics, Section of Child Neurology, University of Chicago, Chicago, IL, 60637, USA., Nugent KM; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Bruel AL; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de référence maladies rares 'déficiences intellectuelles de causes rares', Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Thevenon J; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, 38700 La Tronche, France.; INSERM 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Université Grenoble Alpes, 38706 Grenoble, France., Ehmke N; Institute for Human Genetics and Medical Genetics, Charité - Universitaetsmedizin Berlin, Berlin, Germany., Horn D; Institute for Human Genetics and Medical Genetics, Charité - Universitaetsmedizin Berlin, Berlin, Germany., Holtgrewe M; Core Unit Bioinformatics - CUBI, Berlin Institute of Health (BIH), Berlin, Germany., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147 Essen, Germany., Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium., Dalle C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France., Depienne C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France.; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Hufelandstraße 55, 45147 Essen, Germany.
Publikováno v:
Brain : a journal of neurology [Brain] 2020 Dec 01; Vol. 143 (12), pp. 3564-3573.
Autor:
Chatron N; Genetics Department, Lyon University Hospital, Lyon, France.; Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Becker F; Department of Neurology, University of Ulm, Ulm, Germany.; University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany., Morsy H; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Schmidts M; Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany., Hardies K; Neurogenetics Group, VIB-Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium., Tuysuz B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Istanbul, Turkey., Roselli S; Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden., Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, The Netherlands., Alkaya DU; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Istanbul, Turkey., Ashrafzadeh F; Department of Paediatric Neurology, Ghaem Medical Centre, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Nabil A; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Omar T; Pediatrics Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Maroofian R; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace, London SW17 0RE, UK., Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Innovative medical research center, Mashhad branch, Islamic Azad University, Mashhad, Iran., Hussien H; Pediatrics Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Kok F; Universidade de Sao Paulo Faculdade de Medicina, Sao Paulo, SP, Brazil., Ramos L; Universidade de Sao Paulo Faculdade de Medicina, Sao Paulo, SP, Brazil., Gunes N; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical Faculty, Istanbul, Turkey., Bilguvar K; Department of Genetics, Yale Center for Genome Analysis (YCGA), Yale University, School of Medicine, New Haven, Connecticut., Labalme A; Genetics Department, Lyon University Hospital, Lyon, France., Alix E; Genetics Department, Lyon University Hospital, Lyon, France., Sanlaville D; Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France., de Bellescize J; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, ERN EpiCARE, University Hospitals of Lyon, Lyon, France., Poulat AL; Department of Pediatric Neurology, Lyon University Hospital, Lyon, France., Moslemi AR; Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden., Lerche H; University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany., May P; Luxemburg Centre for Systems Biomedicine, University of Luxembourg, Belvaux, Luxembourg., Lesca G; Genetics Department, Lyon University Hospital, Lyon, France.; Institut NeuroMyoGène CNRS UMR 5310 - INSERM U1217 Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Weckhuysen S; Neurogenetics Group, VIB-Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium., Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skovde, Skovde, Sweden.
Publikováno v:
Brain : a journal of neurology [Brain] 2020 May 01; Vol. 143 (5), pp. 1447-1461.
Autor:
Syrbe S; Department of General Paediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy., Montomoli M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy., Mütze U; Department of General Paediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Helbig KL; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA., Polster T; Bethel Epilepsy Center - Krankenhaus Mara GmbH Bielefeld, Germany., Albrecht B; Institut für Humangenetik, Universitaetsklinikum Essen, Universitaet Duisburg-Essen, Germany., Bernbeck U; Rems-Murr-Kliniken GmbH, Klinik für Kinder- und Jugendmedizin, Winnenden, Germany., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands., Biskup S; CeGaT-Center for Genomics and Transcriptomics GmbH, Tuebingen, Germany., Burglen L; Centre de référence des Malformations et maladies congénitales du cervelet and Département de Génétique et embryologie médicales, AP-HP, GHUEP, Hôpital Trousseau 75012 Paris, France.; GRC ConCer-LD, Sorbonne Universités, UPMC Univ 06, Paris, France., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Heron B; GRC ConCer-LD, Sorbonne Universités, UPMC Univ 06, Paris, France.; AP-HP, Hôpital Trousseau, Service de Neurologie Pédiatrique; Paris, France., Heyne HO; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Hoffmann GF; Department of General Paediatrics, Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Hornemann F; Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Matsushige T; Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan., Matsuura R; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Hatanodai, Shinagawa-ku, Tokyo, Japan., Korenke GC; Klinikum Oldenburg, Zentrum für Kinder- und Jugendmedizin, Klinik für Neuropaediatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany., Kuechler A; Institut für Humangenetik, Universitaetsklinikum Essen, Universitaet Duisburg-Essen, Germany., Lämmer C; St. Bernward Krankenhaus, Hildesheim, Germany., Merkenschlager A; Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Mignot C; AP-HP, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; GRC UPMC 'Déficiences Intellectuelles et Autisme', Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Ruf S; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany., Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Stamberger H; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.; Division of Neurology; Antwerp University Hospital, Antwerp, Belgium., Pisano T; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy., Tohyama J; Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Niigata, Japan., Weckhuysen S; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Belgium.; Division of Neurology; Antwerp University Hospital, Antwerp, Belgium., Werckx W; Jessa Hospital, Hasselt, Belgium., Wickert J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; IRCCS Stella Maris Foundation, Pisa, Italy., Mari F; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy., Verbeek NE; Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands., Møller RS; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Koeleman B; Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Dobyns WB; Departments of Pediatrics and Neurology, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Battaglia D; Child Neurology and Psychiatry Unit, Catholic University, Largo Gemelli 18, Rome, Italy., Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.; IRCCS Stella Maris Foundation, Pisa, Italy.
Publikováno v:
Brain : a journal of neurology [Brain] 2017 Sep 01; Vol. 140 (9), pp. 2322-2336.