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JIMD Reports|March 11, 2016
Disease Heterogeneity in Na+/Citrate Cotransporter DeficiencyIrina Anselm, Morgan MacCuaig, Sanjay B Prabhu, et al.Journal of Child Neurology|May 29, 2015
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the LiteratureLaurel Calderwood, Ingrid A Holm, Lisa A Teot, et al.Neuromuscular Disorders : NMD|July 5, 2017
Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutationFouad Al-Ghamdi, Irina Anselm, Edward Yang, et al.Movement Disorders Clinical Practice|June 23, 2018
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage DiseasesDarius Ebrahimi-Fakhari, Clara Hildebrandt, Peter E Davis, et al.Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|November 29, 2013
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literatureGena Heidary, Laurel Calderwood, Gerald F Cox, et al.Current Treatment Options in Neurology|November 7, 2009
A modern approach to the treatment of mitochondrial diseaseSumit Parikh, Russell Saneto, Marni J Falk, et al.Journal of Child Neurology|November 1, 2016
De Novo TUBB2A Variant Presenting With Anterior Temporal PachygyriaLance H Rodan, Christelle Moufawad El Achkar, Gerard T Berry, et al.JIMD Reports|May 26, 2017
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2APatricia L Hall, Regina Laine, John J Alexander, et al.JIMD Reports|February 4, 2026
Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase DeficiencyAaron B Bowen, Chiadika Nwanze, Cesar Alves, et al.Orphanet Journal of Rare Diseases|October 24, 2019
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndromeJulia Han, Terry Jo Bichell, Stephanie Golden, et al.Pageof 4