DSpace Repository

Browsing by Author "Van de Warrenburg, Bart"

Browsing by Author "Van de Warrenburg, Bart"

Sort by: Order: Results:

  • Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations 
    Perez Lloret, Santiago; Van de Warrenburg, Bart; Rossi, Malco Damián; Rodríguez Blázquez, Carmen; Zesiewicz, Theresa; Saute, Jonas A M; Durr, Alexandra; Nishizawa, Masatoyo; Martínez Martín, Pablo; Stebbins, Glenn T.; Schrag, Anette; Skorvanek, Matej; MDS Rating Scales Review Committee (Wiley-Liss, 2020-10-06)
    Background: We assessed the clinimetric properties of ataxia rating scales and functional tests, and made recommendations regarding their use. Methods: A systematic literature search was conducted to identify the ...
  • Essential genetic testing in movement disorders - results from a Delphi study 
    Carvalho, Vanessa; Gatto, Emilia; Rodriguez-Violante, Mayela; Klein, Christine; Rodriguez-Porcel, Federico; Morgante, Francesca; Miranda, Marcelo; Ganos, Christos; Riboldi, Giulietta M.; Cesarini, Martin; Darling, Alejandra; Skorvanek, Matej; Van de Warrenburg, Bart; Shalash, Ali; Cossu, Giovanni; Friedman, Jennifer; Albanese, Alberto; Cardozo, Adriana; Rossi, Malco Damián (Elsevier, 2026-07)
    Background: While genetic testing in Movement Disorders (MD) has expanded enormously, access to genetic testing and genetic counseling remains asymmetric at the global scale. Guidance on efficient testing strategies for ...
  • 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 ...
  • Myoclonus-Ataxia Syndromes: A Diagnostic Approach 
    Rossi, Malco Damián; Van der Veen, Sterre; Merello, Marcelo; Tijssen, Marina A.J.; Van de Warrenburg, Bart (Wiley, 2020-11-03)
    Background: A myriad of disorders combine myoclonus and ataxia. Most causes are genetic and an increasing number of genes are being associated with myoclonus-ataxia syndromes (MAS), due to recent advances in genetic ...
  • 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 ...
  • Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches 
    Rossi, Malco Damián; Stephen, Christopher D.; Damásio, Joana; Pedroso, José Luiz; Kuo, Sheng-Han; Lin, Chi-Ying R.; Ojo, Oluwadamilola; El-Jaafary, Shaimaa; Lee, Woong-Woo; Madoev, Harutyun; Barsottini, Orlando G.; Srivastava, Achal Kumar; Klein, Christine; Van de Warrenburg, Bart (Wiley, 2025-07-18)
    The landscape of genetic ataxias is influenced by migration, population genetics, consanguinity, and founder effects, resulting in significant regional variation. Within the expanding domain of genetic ataxias, knowledge ...

Search DSpace

Browse

My Account