Results 161 to 170 of about 42,506 (235)

Identification of a Novel <i>CLPX</i> Variant in a Mixed-Breed Dog with Anemia and Spinocerebellar Ataxia. [PDF]

Genes (Basel)
de Cecco BS, Blake JM, Kim NJ, Coffey MC, Johnston AN, Miller AD, Ekenstedt KJ, Lee J.   +7 more
europepmc   +1 more source

Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2. [PDF]

Sci Rep
Almaguer-Mederos LE, Key J, Sen NE, Canet-Pons J, Döring C, Meierhofer D, Gispert-Sánchez S, Cuello-Almarales D, Almaguer-Gotay D, Osorio-González LM, Aguilera-Rodríguez R, Medrano-Montero J, Auburger G.   +12 more
europepmc   +1 more source

Neurocognition, cerebellar functions and psychiatric features in spinocerebellar ataxia type 34: a case series. [PDF]

Front Comput Neurosci
Cundari M, Kirchhoff L, Vestberg S, van Westen D, Dobloug S, Markenroth Bloch K, Nilsson M, Wennberg L, Hansson B, Priovoulos N, Rasmussen A, Gorcenco S.   +11 more
europepmc   +1 more source

Whole exome sequencing in Japanese spinocerebellar ataxia identifies novel variants. [PDF]

J Hum Genet
Watanabe T, Kume K, Inoue K, Nakamura M, Yamamoto S, Kurashige T, Ohshita T, Tazuma T, Kaido M, Maetani Y, Maruyama H, Kawakami H.   +11 more
europepmc   +1 more source

Spinocerebellar ataxia

Neurobiology of Disease, 2018
van der Stijl, Rogier, Withoff, Sebo, Verbeek, Dineke S.   +2 more
openaire   +1 more source

Allosteric Modulation of Pathological Ataxin-3 Aggregation: A Path to Spinocerebellar Ataxia Type-3 Therapies. [PDF]

Adv Sci (Weinh)
Silva A, Duarte-Silva S, Martins PM, Rodrigues B, Serrenho D, Vilasboas-Campos D, Teixeira-Castro A, Vieyto-Nuñez J, Mieres-Perez J, Figueiredo F, Podlasiak M, Van-der-Kellen T, Fraga J, Noble J, Lantz C, Sepanj N, Monteiro-Fernandes D, Guerreiro S, Neves-Carvalho A, Pereira-Sousa J, Klärner FG, Schrader T, Loo JA, Pastore A, Sanchez-Garcia E, Bitan G, Carvalho AL, Maciel P, Macedo-Ribeiro S.   +28 more
europepmc   +1 more source

Dysphagia linked to clinical phenotype and disease progression in spinocerebellar ataxia type 3. [PDF]

Eur J Med Res
Chen CP, Cui ML, Lin W, Huang ZY, Ye BN, Cai B, Gan SR.   +6 more
europepmc   +1 more source

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2-Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion. [PDF]

Int J Mol Sci
Asherah N, Lian M, Tan AS, Taguchi R, Chua P, Liu S, Lee CG, Chong SS.   +7 more
europepmc   +1 more source

Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions. [PDF]

Cerebellum
Conci E, Kelly TL, Armstrong R, Harijan P, Horvath R.   +4 more
europepmc   +1 more source

Widespread Skin Telangiectasias in Spinocerebellar Ataxia Type 27B. [PDF]

Ann Neurol
Alm V, Thonberg H, Svenningsson P, Paucar M.   +3 more
europepmc   +1 more source