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Medrxiv : the Preprint Server for Health Sciences|September 19, 2025
Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff DiseasesConnor J Lewis, Leila Shirvan, Jean M Johnston, et al.American Journal of Medical Genetics. Part A|May 13, 2017
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single centerAngela C Summers, Joseph Snow, Edythe Wiggs, et al.Neurocritical Care|August 3, 2021
Association of Vasopressor Choice with Clinical and Functional Outcomes Following Moderate to Severe Traumatic Brain Injury: A TRACK-TBI StudyCamilo Toro, Nancy Temkin, Jason Barber, et al.Neurology|March 6, 2016
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Andrew R Cullinane, et al.Movement Disorders : Official Journal of the Movement Disorder Society|September 14, 2022
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPASTAlisa Mo, Afshin Saffari, Melanie Kellner, et al.Neurology Open Access|June 15, 2026
Retinal Vessel Dysfunction in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: An Ultra-Widefield Fluorescein Angiography StudyYonatan Serlin, Colyn Munn, Elisa A Ferrante, et al.BMC Neurology|November 1, 2015
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2Nyamkhishig Sambuughin, Lev G Goldfarb, Tatiana M Sivtseva, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 8, 2025
RRP12 Variants Are Associated With Autosomal Recessive Brain CalcificationsEdoardo Monfrini, Paola Rinchetti, Mathieu Anheim, et al.Journal of Medical Genetics|January 15, 2017
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic causeAndrea Poretti, Joseph Snow, Angela C Summers, et al.Journal of Medical Genetics|October 3, 2023
Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literatureMarie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, et al.Pageof 16