Items where Author is "Tajsharghi, H."

(2022) Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. ANNALS OF NEUROLOGY. pp. 304-321. ISSN 0364-5134 1531-8249 J9 - ANN NEUROL

(2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain. pp. 584-600. ISSN 0006-8950

(2019) Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study. Annals of Clinical and Translational Neurology. pp. 2197-2204. ISSN 2328-9503

(2019) Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. BRAIN COMMUNICATIONS. ISSN 2632-1297 J9 - BRAIN COMMUN

(2018) Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. Neurol Genet. e295. ISSN 2376-7839 (Print) 2376-7839 (Linking)