Literature DB >> 23325900

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.

Yuishin Izumi1, Ryosuke Miyamoto, Hiroyuki Morino, Akio Yoshizawa, Kazuto Nishinaka, Fukashi Udaka, Masakuni Kameyama, Hirofumi Maruyama, Hideshi Kawakami.   

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Year:  2013        PMID： 23325900     DOI： 10.1212/WNL.0b013e3182815529

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


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  24 in total

1.  A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I.

Authors:  David Razafsky; Didier Hodzic
Journal:  Neurobiol Dis       Date:  2015-04-02       Impact factor: 5.996

Review 2.  Ataxia.

Authors:  Umar Akbar; Tetsuo Ashizawa
Journal:  Neurol Clin       Date:  2015-02       Impact factor: 3.806

Review 3.  Diseases of the Nucleoskeleton.

Authors:  James M Holaska
Journal:  Compr Physiol       Date:  2016-09-15       Impact factor: 9.090

Review 4.  The nuclear envelope: an intriguing focal point for neurogenetic disease.

Authors:  Howard J Worman; William T Dauer
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

5.  Multiple Isoforms of Nesprin1 Are Integral Components of Ciliary Rootlets.

Authors:  Chloe Potter; Wanqiu Zhu; David Razafsky; Philip Ruzycki; Alexander V Kolesnikov; Teresa Doggett; Vladimir J Kefalov; Ewelina Betleja; Moe R Mahjoub; Didier Hodzic
Journal:  Curr Biol       Date:  2017-06-15       Impact factor: 10.834

6.  The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells.

Authors:  C Potter; D Razafsky; D Wozniak; M Casey; S Penrose; X Ge; M R Mahjoub; D Hodzic
Journal:  Neurobiol Dis       Date:  2018-04-06       Impact factor: 5.996

Review 7.  Nuclear envelope: positioning nuclei and organizing synapses.

Authors:  David Razafsky; Didier Hodzic
Journal:  Curr Opin Cell Biol       Date:  2015-06-12       Impact factor: 8.382

8.  A Chinese patient of P102L Gerstmann-Sträussler-Scheinker disease contains three other disease-associated mutations in SYNE1.

Authors:  Jing Wang; Kang Xiao; Wei Zhou; Chen Gao; Cao Chen; Qi Shi; Xiao-Ping Dong
Journal:  Prion       Date:  2018-04-02       Impact factor: 3.931

9.  Atypical presentation of late-onset Tay-Sachs disease.

Authors:  Andres Deik; Rachel Saunders-Pullman
Journal:  Muscle Nerve       Date:  2014-02-24       Impact factor: 3.217

10.  Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.

Authors:  Inès Mademan; Florian Harmuth; Ilaria Giordano; Dagmar Timmann; Stefania Magri; Tine Deconinck; Jens Claaßen; Daniel Jokisch; Gencer Genc; Daniela Di Bella; Silvia Romito; Rebecca Schüle; Stephan Züchner; Franco Taroni; Thomas Klockgether; Ludger Schöls; Peter De Jonghe; Peter Bauer; Eoa Consortium; Jonathan Baets; Matthis Synofzik
Journal:  Brain       Date:  2016-05-19       Impact factor: 13.501
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