The nosology of hereditary cerebellar ataxias : development of a classification for recessive ataxias and phenotypical description of Spinocerebellar ataxia 34

Autor: Beaudin, Marie

Les ataxies cérébelleuses héréditaires causent une atteinte progressive de l’équilibre et de la marche. Malgré l’amélioration de la performance et de l’accessibilité des tests génétiques, environ la moitié des patients demeurent sans

Externí odkaz: https://hdl.handle.net/20.500.11794/36557

Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy.

Autor: Beaudin, Marie^1,2 (AUTHOR) tkamali@stanford.edu, Kamali, Tahereh¹ (AUTHOR) whitneyt@stanford.edu, Tang, Whitney¹ (AUTHOR) khagerma@stanford.edu, Hagerman, Katharine A.¹ (AUTHOR) lehallib@stanford.edu, Dunaway Young, Sally^1,2 (AUTHOR) ctesiroc@stanford.edu, Ghiglieri, Lisa¹ (AUTHOR), Parker, Dana M.¹ (AUTHOR), Lehallier, Benoit¹ (AUTHOR), Tesi-Rocha, Carolina^1,2 (AUTHOR), Sampson, Jacinda B.^1,2 (AUTHOR), Duong, Tina^1,2 (AUTHOR), Day, John W.^1,2 (AUTHOR) jwday@stanford.edu

Publikováno v: Journal of Clinical Medicine. Oct2023, Vol. 12 Issue 20, p6696. 18p.

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The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

Autor: Beaudin, Marie, Matilla-Dueñas, Antoni, Soong, Bing-Weng, Pedroso, Jose Luiz, Barsottini, Orlando G., Mitoma, Hiroshi, Tsuji, Shoji, Schmahmann, Jeremy D., Manto, Mario, Rouleau, Guy A, Klein, Christopher, Dupre, Nicolas, Universitat Autònoma de Barcelona

Publikováno v: Cerebellum
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
r-IGTP: Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Cerebellum (London, England)

There is currently no accepted classification of autosomal recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus on the cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::860e4365be2241090aefdaa3a68ffcfd
https://doi.org/10.1007/s12311-019-01052-2