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Movement Disorders : Official Journal of the Movement Disorder Society|July 20, 2023
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B)Thomas Wirth, Guillemette Clément, Clarisse Delvallée, et al.Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.Orphanet Journal of Rare Diseases|March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencingNadège Calmels, Géraldine Greff, Cathy Obringer, et al.Journal of Neurology|January 8, 2021
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxiaJean-Marie Ravel, Mehdi Benkirane, Nadège Calmels, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2022
Highlighting the Dystonic Phenotype Related to GNAO1Thomas Wirth, Giacomo Garone, Manju A Kurian, et al.Acta Neuropathologica|July 8, 2017
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic cluesValérie Biancalana, Sophie Scheidecker, Marguerite Miguet, et al.Frontiers in Genetics|May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationsManon Chretien, Julien Osouf, Carine Abel, et al.Pageof 3