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Cerebellum & Ataxias|September 14, 2020
Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in MalaysiaNorlinah Mohamed Ibrahim, Yue Hui Lau, Noorasyikin Ariffin, et al.
European Journal of Human Genetics : EJHG|February 13, 2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathiesMaartje Pennings, Rowdy P P Meijer, Monique Gerrits, et al.
Journal of Neurology|April 19, 2023
The potential value of disease-modifying therapy in patients with spinocerebellar ataxia type 1: an early health economic modeling studyTeije van Prooije, Sanne Ruigrok, Niels van den Berkmortel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 6, 2020
Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and RecommendationsSantiago Perez-Lloret, Bart van de Warrenburg, Malco Rossi, et al.
Pediatric Neurology|September 27, 2020
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch CohortMark R Garrelfs, Sanami Takada, Erik-Jan Kamsteeg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 9, 2026
Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1Colette J M Reniers, Teije H van Prooije, Kirsten C J Kapteijns, et al.
Journal of Neurology|June 7, 2025
Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxiaMaxine D Rouvroye, Janna Warendorf, Alexander Vrancken, et al.
Parkinsonism & Related Disorders|June 6, 2024
Randomized double-blind placebo-controlled trial of the effects of oral trehalose in spinocerebellar ataxia type 3: An interim analysisKah Hui Yap, Shahrul Azmin, Hanani Abdul Manan, et al.
Neuroimage|November 9, 2022
CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentationJennifer Faber, David Kügler, Emad Bahrami, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2021
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yieldBart P G H van der Sanden, Jordi Corominas, Michelle de Groot, et al.
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