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Showing articles 0 to 13 of 13 Filter Applied: gene (Click to remove) Neuroimaging Features of Biotinidase Deficiency AJNR 44:328-333, Biswas,A.,et al, 2023 Wilson Disease NIDDK Oct2018, , 2018 Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ NEJM 368:1971-1979, Shirley, M.,et al, 2013 GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease Neurol 77:1287-1294, Prust, M.,et al, 2011 Aicardi-Gouti�res Syndrome Br Med Bull 89:183-201, Orcesi, S.,et al, 2009 A 23-Year-Old Man With Seizures and Visual Deficit Neurol 70:73-78, Boustany,R.-M.,et al, 2008 Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency Neurol 60:1413-1417, Pearl,P.L.,et al, 2003 Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype NEJM 347:672-680, Case 27-2002, 2002 New Developments in the Neurobiology of the Tuberous Sclerosis Complex Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999 Prader-Willi and Angelman Syndromes Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998 A Novel Mutation in Exon 3 of the Proteolipid Protein Gene in Pelizaeus-Merzabacher Disease Neurol 45:394-395, Pratt,V.M.,et al, 1995 Canavan Disease:From Spongy Degeneration to Molecular Analysis J Pediatr 127:511-517, Matalon,R.,et al, 1995 Wilson Disease Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992 Showing articles 0 to 13 of 13