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Journal of Child Neurology|July 4, 2012
Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participantsSean R Regner, Nicholas S Wilcox, Lisa S Friedman, et al.Tremor and Other Hyperkinetic Movements (New York, N.Y.)|October 24, 2017
Postural Tremor and Ataxia Progression in Spinocerebellar AtaxiasShi-Rui Gan, Jie Wang, Karla P Figueroa, et al.Journal of Neurology|September 3, 2024
Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disordersJulien Park, Tatiana Bremova-Ertl, Marion Brands, et al.Annals of Clinical and Translational Neurology|September 21, 2016
Progression of Friedreich ataxia: quantitative characterization over 5 yearsMaya Patel, Charles J Isaacs, Lauren Seyer, et al.Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.Journal of Medical Genetics|October 22, 2021
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrumValentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, et al.BMJ Neurology Open|April 1, 2026
Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxiaChristian Rummey, Ian A Blair, Clementina Mesaros, et al.Parkinsonism & Related Disorders|February 28, 2020
The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3Shi-Rui Gan, Karla P Figueroa, Hao-Ling Xu, et al.American Journal of Human Genetics|June 15, 2007
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersFrancesco Brancati, Giuseppe Barrano, Jennifer L Silhavy, et al.Frontiers in Molecular Biosciences|September 22, 2022
A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxiaLayne N Rodden, Christian Rummey, Yi Na Dong, et al.Pageof 26