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American Journal of Medical Genetics. Part A|December 14, 2019
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2Nicolas J Abreu, Daniel C Koboldt, Julie M Gastier-Foster, et al.Molecular Genetics and Metabolism|November 3, 2023
CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencingConnolly Steigerwald, Jill Borsuk, John Pappas, et al.Human Mutation|March 25, 2022
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypesAlayne P Meyer, Megan E Forrest, Stefan Nicolau, et al.Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|July 22, 2025
Causes of Diplopia, Strabismus Patterns, and Ocular Motor Features in Patients With Spinocerebellar Ataxia Type 27BDaniel R Gold, Anand K Bery, Emile Moukheiber, et al.Pediatric Neurology|March 12, 2023
Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case SeriesJude Tunyi, Nicolas J Abreu, Richa Tripathi, et al.Multiple Sclerosis (Houndmills, Basingstoke, England)|May 25, 2023
Two cases of <i>MT-ND5</i>-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorderSophie R Wilkins, Amy W Yu, Connolly Steigerwald, et al.Clinical Case Reports|February 16, 2022
Novel truncating variant in <i>KMT2E</i> associated with cerebellar hypoplasia and velopharyngeal dysfunctionNicolas J Abreu, Amy E Siemon, Adriane L Baylis, et al.Molecular Genetics and Metabolism|May 8, 2021
Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIBNicolas J Abreu, Bhavani Selvaraj, Kristen V Truxal, et al.Brain Sciences|July 29, 2023
Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and ReviewRuben Jauregui, Nicolas J Abreu, Shani Golan, et al.American Journal of Medical Genetics. Part A|March 1, 2024
Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotypeAlison Garber, Lisa S Weingarten, Nicolas J Abreu, et al.Pageof 3