Literature DB >> 22049201

Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians.

K Ishikawa1, A Dürr, T Klopstock, S Müller, B De Toffol, M Vidailhet, A Vighetto, C Marelli, H-E Wichmann, T Illig, Y Niimi, N Sato, T Amino, G Stevanin, A Brice, H Mizusawa.   

Abstract

Entities:  

Mesh：

Year:  2011        PMID： 22049201     DOI： 10.1212/WNL.0b013e3182377e3a

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  17 in total

1.  Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31.

Authors:  Kunihiro Yoshida; Akira Matsushima; Katsuya Nakamura
Journal:  J Hum Genet       Date:  2017-06-22       Impact factor: 3.172

Review 2.  How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

Authors:  Marka van Blitterswijk; Mariely DeJesus-Hernandez; Rosa Rademakers
Journal:  Curr Opin Neurol       Date:  2012-12       Impact factor: 5.710

3.  Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures.

Authors:  Karen N McFarland; Jilin Liu; Ivette Landrian; Desmond Zeng; Salmo Raskin; Mariana Moscovich; Emilia M Gatto; Adriana Ochoa; Hélio A G Teive; Astrid Rasmussen; Tetsuo Ashizawa
Journal:  Neurogenetics       Date:  2013-12-07       Impact factor: 2.660

Review 4.  The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability.

Authors:  Katherine E Hekman; Christopher M Gomez
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-08-18       Impact factor: 10.154

5.  Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.

Authors:  Katsuya Nakamura; Kunihiro Yoshida; Akira Matsushima; Yusaku Shimizu; Shunichi Sato; Hiroyuki Yahikozawa; Shinji Ohara; Masanobu Yazawa; Masao Ushiyama; Mitsuto Sato; Hiroshi Morita; Atsushi Inoue; Shu-Ichi Ikeda
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

6.  Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)n.

Authors:  Hanako Aoki; Miwa Higashi; Michi Okita; Noboru Ando; Shigeo Murayama; Kinya Ishikawa; Takanori Yokota
Journal:  Cerebellum       Date:  2022-01-27       Impact factor: 3.847

7.  A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37.

Authors:  Joana Rocha Loureiro; Cláudia Louro Oliveira; Jorge Sequeiros; Isabel Silveira
Journal:  J Hum Genet       Date:  2018-06-11       Impact factor: 3.172

Review 8.  ArcRNAs and the formation of nuclear bodies.

Authors:  Shinichi Nakagawa; Tomohiro Yamazaki; Taro Mannen; Tetsuro Hirose
Journal:  Mamm Genome       Date:  2021-06-03       Impact factor: 2.957

9.  Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.

Authors:  A Matilla-Dueñas; T Ashizawa; A Brice; S Magri; K N McFarland; M Pandolfo; S M Pulst; O Riess; D C Rubinsztein; J Schmidt; T Schmidt; D R Scoles; G Stevanin; F Taroni; B R Underwood; I Sánchez
Journal:  Cerebellum       Date:  2014-04       Impact factor: 3.847

Review 10.  Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.

Authors:  Shinsuke Fujioka; Christina Sundal; Zbigniew K Wszolek
Journal:  Orphanet J Rare Dis       Date:  2013-01-18       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.