Literature DB >> 27671794

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

Maria Thereza Drumond Gama1, Gabrielle Houle2,3, Anne Noreau2, Alexandre Dionne-Laporte2, Patrick A Dion2, Guy A Rouleau2, Orlando G P Barsottini1, José Luiz Pedroso1.   

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Year:  2016        PMID： 27671794     DOI： 10.1002/mds.26810

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  5 in total

1.  Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.

Authors:  Maria Thereza Drumond Gama; Pedro Braga-Neto; Livia Almeida Dutra; Helena Alessi; Lilia Alves Maria; Ary Araripe Gadelha; Bruno Bertolucci Ortiz; Ilda Kunii; Silvia Regina Correia-Silva; Magnus R Dias da Silva; Patrick A Dion; Guy A Rouleau; Marcondes Cavalcante França; Orlando G P Barsottini; José Luiz Pedroso
Journal:  Cerebellum       Date:  2019-08       Impact factor: 3.847

2.  A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.

Authors:  Tsuneaki Yoshinaga; Katsuya Nakamura; Masumi Ishikawa; Tomomi Yamaguchi; Kyoko Takano; Keiko Wakui; Tomoki Kosho; Kunihiro Yoshida; Yoshimitsu Fukushima; Yoshiki Sekijima
Journal:  Hum Genome Var       Date:  2017-10-26

3.  Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Authors:  Hao-Ling Cheng; Ya-Ru Shao; Yi Dong; Hai-Lin Dong; Lu Yang; Yin Ma; Ying Shen; Zhi-Ying Wu
Journal:  Transl Neurodegener       Date:  2021-10-18       Impact factor: 8.014

4.  Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family.

Authors:  Nannan Qian; Taohua Wei; Wenming Yang; Jiuxiang Wang; Shijie Zhang; Shan Jin; Wei Dong; Wenjie Hao; Yue Yang; Ru Huang
Journal:  Front Genet       Date:  2022-02-23       Impact factor: 4.599

5.  Syncrip/hnRNP Q is required for activity-induced Msp300/Nesprin-1 expression and new synapse formation.

Authors:  Joshua Titlow; Francesca Robertson; Aino Järvelin; David Ish-Horowicz; Carlas Smith; Enrico Gratton; Ilan Davis
Journal:  J Cell Biol       Date:  2020-03-02       Impact factor: 8.077
  5 in total

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