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Browsing Movimientos Anormales.artículos by Author "Klein, Christine"

Browsing Movimientos Anormales.artículos by Author "Klein, Christine"

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  • 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 ...
  • Involuntary moaning in a Hispanic family with eight affected members 
    Gisatulin, Maria; Rossi, Malco Damián; Perandones, Claudia; Klein, Christine; Lohmann, Katja; Merello, Marcelo (Elsevier, 2021-03-26)
    Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence ...
  • 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 ...
  • The commercial genetic testing landscape for Parkinson's disease 
    Cook, Lola; Schulze, Jeanine; Verbrugge, Jennifer; Beck, James C.; Marder, Karen S.; Saunders-Pullman, Rachel; Klein, Christine; Naito, Anna; Alcalay, Roy N.; Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors; Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors (Elsevier, 2021-11-27)
    Introduction: There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered ...

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