Results 41 to 50 of about 114,557 (289)

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek, Alexis Brice, Andrew SE, Bauer I, Bauer P, Bayreuther C, Benedikt Bader, Cellini E, Costa MC, Cécile Cazeneuve, Dobson-Stone C, Guilherme Riccioppo Rodrigues, Hirose G, Holmes SE, IBGE, Iscia Lopes-Cendes, Keckarević M, Krause A, Kremer B, Margolis RL, Martins S, McNeill A, Odile Russaouen, Rodrigues GR, Rodrigues GR, Rodriguez-Revenga L, Rosenblatt A, Ruth H. Walker, Santos C, Schmitz-Hübsch T, Stevanin G, Sułek-Piatkowska A, Teive HAG, Vitor Tumas, Vuillaume I, Wardle M, Warner JP, Wild EJ, Wilson Marques Jr.   +38 more
core   +3 more sources

Epilepsy in spinocerebellar ataxia type 8: a case report

Journal of Medical Case Reports, 2019
Background Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and cognitive and psychiatric abnormalities.
Arun Swaminathan
doaj   +1 more source

Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family

The Pan African Medical Journal, 2021
Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disease. Its clinical presentation is a progressive cerebellar ataxia associated with cone and retinal dystrophy.
Fatima Zahra Bouzid, Maria Mansouri, Chaikhy Abdelaziz, Nisrine Louhab, Sablonniere Bernard, Isabelle Strubi-vuillaume, Kenza Dafir, Nisrine Aboussair   +7 more
doaj   +1 more source

Generation of induced pluripotent stem cell(iPSC)line CJUHi001-A derived peripheral blood mononuclear cells of spinocerebellar ataxia type 1(SCA1) the CAG repeat mutation in ATXN1 gene

Stem Cell Research, 2023
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by CAG repeat mutations in the ATXN1 gene. In this study, we generated an induced pluripotent stem cell line (iPSC) by using non-integrating Sendai virus (SeV)
Yinshi Jin, Guangxian Nan
doaj   +1 more source

Spinocerebellar Ataxia

Pediatric Neurology Briefs, 1988
The onset below 15 years of age of autosomal dominant spinocerebellar ataxia (SCA) in 6 of 41 affected patients is reported from the Dept of Pediatrics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
doaj   +1 more source

The differential diagnosis of chorea [PDF]

, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core   +1 more source

Progressive ataxia with oculo-palatal tremor and optic atrophy [PDF]

, 2013
The final publication is available at Springer via doi: 10.​1007/​s00415-013-7136-
A. M. Bronstein, C Morgia, C. Everett, E Storey, G Deuschl, I. Peppas, K. Schmierer, KK Johansen, KL Howard, LI Lopez, M Samuel, M. M. Papachatzaki, N. Ali, P Amati-Bonneau, Q. Arshad, RK Naviaux, S Stricker, S. Cader   +17 more
core   +1 more source

Gene, Stem Cell, and Alternative Therapies for SCA 1

Frontiers in Molecular Neuroscience, 2016
Spinocerebellar ataxia 1 is an autosomal dominant disease characterized by neurodegeneration and motor dysfunction. In disease pathogenesis, polyglutamine expansion within Ataxin-1, a gene involved in transcriptional repression, causes protein nuclear ...
Jacob Lewis Wagner, Deirdre Margaret O'Connor, Anthony Donsante, Nicholaus M Boulis   +3 more
doaj   +1 more source

DNA methylation and trinucleotide repeat expansion diseases [PDF]

, 2012
Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core   +1 more source

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

Neurology: Genetics, 2020
Objective We evaluated the prevalence of pathogenic repeat expansions in replication factor C subunit 1 (RFC1) and disabled adaptor protein 1 (DAB1) in an undiagnosed ataxia cohort from North America.
Dona Aboud Syriani, Darice Y. Wong, Sameer Andani, C. M. de Gusmao, Yuanming Mao, M. Sanyoura, Giacomo L. Glotzer, P. Lockhart, S. Hassin-Baer, V. Khurana, C. Gomez, S. Perlman, Soma Das, B. Fogel   +13 more
semanticscholar   +1 more source