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Molecular Genetics & Genomic Medicine|January 25, 2017
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformationsMatthias Rath, Stefanie Spiegler, Neetika Nath, et al.European Journal of Medical Genetics|August 29, 2020
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approachesSabine Illsinger, G Christoph Korenke, Sylvia Boesch, et al.Neuropediatrics|April 14, 2021
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal NeuropathyMurtadha L Al-Saady, Charlotte S Kaiser, Felipe Wakasuqui, et al.The Journal of Clinical Investigation|January 9, 2019
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humansGergely Karsai, Florian Kraft, Natja Haag, et al.Genes|April 28, 2023
The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent VariantMartje G Pauly, G Christoph Korenke, Sokhna Haissatou Diaw, et al.Brain Communications|March 13, 2026
CACNB3 defects are associated with infantile idiopathic nystagmusChristoph Jüschke, Kira Linsel, Marta Owczarek-Lipska, et al.Plos Genetics|April 5, 2014
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemiaFrancisco J Arjona, Jeroen H F de Baaij, Karl P Schlingmann, et al.International Journal of Molecular Sciences|April 3, 2021
Refining Genotypes and Phenotypes in KCNA2-Related Neurological DisordersJan H Döring, Julian Schröter, Jerome Jüngling, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxiaSimone Schröder, Yun Li, Gökhan Yigit, et al.Nature Genetics|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, et al.Pageof 13