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Browsing Movimientos Anormales by Author "Lohmann, Katja"

Browsing Movimientos Anormales by Author "Lohmann, Katja"

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  • Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort 
    Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, Marie; Wurster, Isabel; Hentati, Faycel; Mirelman, Anat; Giladi, Nir; Marder, Karen S.; Waters, Cheryl; Fahn, Stanley; Kasten, Meike; Brüggemann, Norbert; Rossi, Malco Damián; Merello, Marcelo; MJFF Global Genetic Parkinson's Disease Study Group (Wiley, 2023-01-24)
    Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of ...
  • 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 ...

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