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Showing articles 0 to 12 of 12 Filter Applied: gene (Click to remove) 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 Limbic-Predominant Age-Related TDP-43 Encephalopathy (LATE): Consensus Working Group Report Brain DOI: 10.1093/brain/awz099, Nelson, P.T.,et al, 2019 MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016 Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm JNNP 86:774-781, Van Egmond, M.E.,et al, 2015 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 Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene Brain 129:1674-1684, Horvath, R.,et al, 2006 Creutzfeldt-Jakob Disease in a Young Woman Lancet 347:945-948, Tabrizi,S.J.,et al, 1996 Canavan Disease:From Spongy Degeneration to Molecular Analysis J Pediatr 127:511-517, Matalon,R.,et al, 1995 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 The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993 Wilson Disease Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992 Showing articles 0 to 12 of 12