Browsing by Author "Rajalingam, Rajasumi"

Now showing items 1-2 of 2

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 ...
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update

Lange, Lara M.; Gonzalez-Latapi, Paulina; Rajalingam, Rajasumi; Tijssen, Marina A.J.; Ebrahimi-Fakhari, Darius; Gabbert, Carolin; Ganos, Christos; Ghosh, Rhia; Kumar, Kishore R.; Lang, Anthony E.; Rossi, Malco Damián; Van der Veen, Sterre; Van de Warrenburg, Bart; Warner, Tom; Lohmann, Katja; Klein, Christine; Marras, Connie; Task Force on Genetic Nomenclature in Movement Disorders (Wiley-Liss, 2022-05)

In 2016, the Movement Disorder Society Task Force for the Nomenclature of Genetic Movement Disorders presented a new system for naming genetically determined movement disorders and provided a criterion-based list of confirmed ...

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