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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.Journal of Medical Genetics|May 1, 2014
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, et al.American Journal of Human Genetics|October 29, 2024
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemiaScott Barish, Sheng-Jia Lin, Reza Maroofian, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersJuan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.Journal of Neurology|July 1, 2018
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxiasHeike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, et al.Movement Disorders : Official Journal of the Movement Disorder Society|November 7, 2025
Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site VariantsAna Westenberger, Edgard Verdura, Mandy Radefeldt, et al.Brain : a Journal of Neurology|December 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental diseaseRalf A Husain, Xinfu Jiao, J Christopher Hennings, et al.Annals of Neurology|November 25, 2020
EIF2AK2 Missense Variants Associated with Early Onset Generalized DystoniaDemy J S Kuipers, Wim Mandemakers, Chin-Song Lu, et al.Journal of Medical Genetics|December 25, 2021
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 geneAida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, et al.Pageof 67