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Listar por autor "Van de Warrenburg, Bart"

Listar por autor "Van de Warrenburg, Bart"

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  • 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 ...