Results 181 to 190 of about 33,006 (235)

A novel STUB1 p.(Gln118*) nonsense variant in compound heterozygosity causes autosomal recessive spinocerebellar ataxia type 16 in a Chinese patient. [PDF]

BMC Neurol
Zheng KM, Tang MK, Li JP, Liu Q, Bi M, Wan HJ, Jiang HW, Yu ZW, Wang J, Xu CC, Wu JX, Xiao NA, Jiang B.   +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

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

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

The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.

Cell Rep
Loureiro JR, Castro AF, Figueiredo AS, Eufrásio A, Dhingra A, Galhardo M, Marcelino H, Rodrigues CC, Sampaio P, Azevedo M, Sousa M, Dória S, Rizzu P, Heutink P, Bessa J, Silveira I.   +15 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

Spinocerebellar ataxia

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