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Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients Freqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros

Autor: Iscia Lopes-Cendesi, Hélio G.A. Teive, Maria E Calcagnotto, Jaderson C. da Costa, Francisco Cardoso, Erika Viana, Jaime A. Maciel, João Radvany, Walter O. Arruda, Paulo C. Trevisol-Bittencourt, Pedro Rosa Neto, Isabel Silveira, Carlos E. Steiner, Walter Pinto-Júnior, André S. Santos, Ylmar Correa Neto, Lineu C. Werneck, Abelardo Q.C. Araújo, Gerson Carakushansky, Luiz R. Mello, Laura B. Jardim, Guy A. Rouleau

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 55, Iss 3B, Pp 519-529 (1997)

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of a

Externí odkaz: https://doaj.org/article/02bdfc208fe340e890a607549bd42d95

Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy

Autor: Heasoo Koo, Hyun Jeong Han, Hyeyun Kim, Kyoung Gyu Choi, Ji Young Yun

Publikováno v: Journal of Korean Medical Science

Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein. Unlike other CAG repeat diseases, sleep related prob

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e73af7ec43f560025962e16aa913f9e9
https://doi.org/10.3346/jkms.2018.33.e130

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

Autor: Elide Mantuano, Liana Veneziano, Marina Frontali, Claudio Catalli, Alexandra Durr, Maria Spadaro, Cinzia Gellera, Silvia Romano, Andrea Novelletto

Publikováno v: Journal of human genetics
59 (2014): 153–157. doi:10.1038/jhg.2013.137
info:cnr-pdr/source/autori:Veneziano, Liana; Mantuano, Elide; Catalli, Claudio; Gellera, Cinzia; Durr, Alexandra; Romano, Silvia; Spadaro, Maria; Frontali, Marina; Novelletto, Andrea/titolo:A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation/doi:10.1038%2Fjhg.2013.137/rivista:Journal of human genetics (Print)/anno:2014/pagina_da:153/pagina_a:157/intervallo_pagine:153–157/volume:59

To clarify the population history of dentatorubropallidoluysian atrophy ( DRPLA) in Italy and to date back the introduction of the mutation, we reconstructed extended haplotypes flanking the CAG repeat in 10 patients of Italian ancestry, analyzing th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ebd8cffa94b9fc037eb3e3ef85cb643
http://hdl.handle.net/11573/559219

Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA)

Autor: Michael R. Silver, Kapil D. Sethi, Shyamal H. Mehta, Fenwick T. Nichols, John C. Morgan

Publikováno v: BMC Neurology

Background Dentatorubropallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disease that is associated with numerous movement disorders. Ocular problems also occur with DRPLA with reports of corneal endothelial degeneration i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303274ded2c4b5cd88fcb80c7999df82
https://doi.org/10.1186/s12883-015-0520-0