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Showing articles 0 to 14 of 14 Filter Applied: gene (Click to remove) Muscular Dystrophies Lancet 394:2025-2038, Mercuri, E.,et al, 2019 FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018 Wilson Disease NIDDK Oct2018, , 2018 MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016 Degenerative Diseases of the Nervous System, Alzheimer Disease Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014 GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease Neurol 77:1287-1294, Prust, M.,et al, 2011 New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy JNNP 81:946-953, Klinge,L.,et al, 2010 Diagnosis and New Treatments in Muscular Dystrophies JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009 Aicardi-Gouti�res Syndrome Br Med Bull 89:183-201, Orcesi, S.,et al, 2009 Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene Brain 129:1674-1684, Horvath, R.,et al, 2006 Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency Neurol 60:1413-1417, Pearl,P.L.,et al, 2003 Prader-Willi and Angelman Syndromes Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998 Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993 Wilson Disease Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992 Showing articles 0 to 14 of 14