ListarMovimientos Anormales.artículos por tema "Ataxias Espinocerebelosas"

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Comment on: The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas

Guarnaschelli, Marlen; Rossi, Malco Damián; Zajd, Ana; Igarreta, Pilar (Wiley, 2020-01-25)

Resumen no disponible
Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review

Rossi, Malco Damián; Hamed, Moath; Rodríguez Antigüedad, Jon; Cornejo Olivas, Mario; Breza, Marianthi; Lohmann, Katja; Klein, Christine; Rajalingam, Rajasumi; Marras, Connie; Van de Warrenburg, Bart (Wiley-Liss, 2022-11-14)

Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's ...
Interpretation of Variants of Uncertain Signicance in the Clinical Setting: A Case of Treatable Ataxia

Wilken, Miguel; Rossi, Malco Damián; Merello, Marcelo (2020-06-10)

Background: Spinocerebellar ataxia type 38 (SCA38) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the elongation of very long chain fatty acids-like 5 gene (ELOVL5). Improvement of ataxia ...

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