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Showing articles 0 to 9 of 9 Filter Applied: gene mutation (Click to remove) The Phenotypic Continuum of ATP1A3-Related Disorders Neurol 99:e1511-e1526, Vezyroglou,A., et al, 2022 A Middle-aged Woman with Severe Scoliosis and Encephalopathy JAMA Neurol 78:251-252, Mohan, G.,et al, 2021 Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss Neurol 90:e625-e631, Set, K.K.,et al, 2018 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 The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification Neurol 87:e56-e57, Saini, A.G.,et al, 2016 Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency NEJM 371:847-858, Case 27-2014, 2014 Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder Brain 133:655-670, Leen,W.G., et al, 2010 The Expanding Phenotype of GLUT1-Deficiency Syndrome Brain & Dev 31:545-552, Brockmann,K., 2009 Aicardi-Gouti�res Syndrome Br Med Bull 89:183-201, Orcesi, S.,et al, 2009 Showing articles 0 to 9 of 9