Results 191 to 200 of about 114,557 (289)

Role of Repeat Tract Structure and the rs7158733 SNP in Spinocerebellar Ataxia 3. [PDF]

Int J Mol Sci
Nethisinghe S, Garcia-Moreno H, Alwan J, Labrum R, Giunti P.   +4 more
europepmc   +1 more source

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Dmsophila

, 2010
D.N. Lorenzo, M.-G. Li, S.E. Mische, K.R. Armbrust, L.P.W. Ronum, T.S. Hays   +5 more
openalex   +1 more source

Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort [PDF]

, 2014
Dhanya Kumaran, Krishnan Balagopal, Reginald George Alex Tharmaraj, Sanjith Aaron, Kuryan George, Jayaprakash Muliyil, Ajith Sivadasan, Sumita Danda, Mathew Alexander, Gaiti Hasan   +9 more
openalex   +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

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

Dateset related to article "Spinocerebellar Ataxia Type 1: One‑Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers "

, 2021
Anna Nigri, Lidia Sarro, Alessia Mongelli, Anna Castaldo, Luca Porcu, Chiara Pinardi, Marina Grisoli, Stefania Ferraro, Laura Canafoglia, Elisa Visani, Maria Grazia Bruzzone, Lorenzo Nanetti, Franco Taroni, Caterina Mariotti   +13 more
openalex   +2 more sources

Clinic vs. daily life gait characteristics in patients with spinocerebellar ataxia. [PDF]

Front Digit Health
Shah VV, Muzyka D, Jagodinsky A, Casey H, McNames J, El-Gohary M, Sowalsky K, Safarpour D, Carlson-Kuhta P, Horak FB, Gomez CM.   +10 more
europepmc   +1 more source

A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia [PDF]

, 2014
Ho Tsoi, Allen Chi-Shing Yu, Zhefan Stephen Chen, Nelson K N Ng, Anne Chan, Liz Y. P. Yuen, Jill Abrigo, Suk Ying Tsang, Stephen Kwok‐Wing Tsui, Tony M F Tong, Ivan F. M. Lo, Stephen T.S. Lam, Vincent Mok, Ka Sing Wong, Jacky Chi Ki Ngo, Kwok‐Fai Lau, Ting‐Fung Chan, Ho Yin Edwin Chan   +17 more
openalex   +1 more source

Correction to: Sex Differences in Spinocerebellar Ataxia Type 1: Clinical Presentation and Progression. [PDF]

Cerebellum
Colucci F, Stefanelli S, Contaldi E, Gozzi A, Pugliatti M, Antenucci P, Capone JG, Gragnaniello D, Sensi M.   +8 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