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O14 – 1917 Hypomyelination with brain stem and spinal cord involvement and severe leg spasticity (HBSL): mutations in DARS are responsible.

Autor: Wolf, NI, van der Knaap, MS, de Coo, IFM, Vanderver, A, Leventer, RJ, Damiani, S, Simons, C, Juneja, M, Verma, IC, Prabhakar, P, Blaser, S, Raiman, J, Abbink, TEM, Taft, R

Publikováno v: European Journal of Paediatric Neurology; Sep2013 Supplement, Vol. 17, pS5-S5, 1p

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

Autor: Passchier EMJ; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Neuroscience, Amsterdam, Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam, Netherlands., Bisseling Q; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Neuroscience, Amsterdam, Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam, Netherlands., Helman G; Translational Bioinformatics, Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia., van Spaendonk RML; Department of Human Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands., Simons C; Translational Bioinformatics, Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia., Olsthoorn RCL; Leiden Institute of Chemistry, Leiden University, Leiden, Netherlands., van der Veen H; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Neuroscience, Amsterdam, Netherlands.; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam, Netherlands., Abbink TEM; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Neuroscience, Amsterdam, Netherlands., van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Neuroscience, Amsterdam, Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam, Netherlands., Min R; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Neuroscience, Amsterdam, Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam, Netherlands.

Publikováno v: Frontiers in genetics [Front Genet] 2024 Feb 29; Vol. 15, pp. 1352947. Date of Electronic Publication: 2024 Feb 29 (Print Publication: 2024).