Literature DB >> 25091525

Dominant muscular dystrophy with a novel SYNE1 gene mutation.

Marina Fanin1, Marco Savarese, Anna C Nascimbeni, Giuseppina Di Fruscio, Ebe Pastorello, Elisabetta Tasca, Carlo P Trevisan, Vincenzo Nigro, Corrado Angelini.   

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Year:  2014        PMID： 25091525     DOI： 10.1002/mus.24357

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  9 in total

1.  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

2.  Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.

Authors:  Matthias Baumann; Elisabeth Steichen-Gersdorf; Birgit Krabichler; Britt-Sabina Petersen; Ulrike Weber; Wolfgang M Schmidt; Johannes Zschocke; Thomas Müller; Reginald E Bittner; Andreas R Janecke
Journal:  Eur J Hum Genet       Date:  2016-10-26       Impact factor: 4.246

3.  Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy.

Authors:  Corrado Angelini
Journal:  Nat Rev Neurol       Date:  2015-12-16       Impact factor: 42.937

4.  Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody.

Authors:  Ian Holt; Nguyen Thuy Duong; Qiuping Zhang; Le Thanh Lam; Caroline A Sewry; Kamel Mamchaoui; Catherine M Shanahan; Glenn E Morris
Journal:  BMC Cell Biol       Date:  2016-06-27       Impact factor: 4.241

5.  Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.

Authors:  Sarah Wiethoff; Joshua Hersheson; Conceicao Bettencourt; Nicholas W Wood; Henry Houlden
Journal:  J Neurol       Date:  2016-05-13       Impact factor: 4.849

6.  Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1.

Authors:  Christine Schwartz; Martina Fischer; Kamel Mamchaoui; Anne Bigot; Thevy Lok; Claude Verdier; Alain Duperray; Richard Michel; Ian Holt; Thomas Voit; Suzanna Quijano-Roy; Gisèle Bonne; Catherine Coirault
Journal:  Sci Rep       Date:  2017-04-28       Impact factor: 4.379

7.  A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like.

Authors:  Zuzhi Chen; Zhixia Ren; Wenli Mei; Qiankun Ma; Yingying Shi; Yuanxing Zhang; Shujian Li; Li Xiang; Jiewen Zhang
Journal:  BMC Med Genet       Date:  2017-06-05       Impact factor: 2.103

Review 8.  Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles.

Authors:  Alexandre Janin; Vincent Gache
Journal:  Front Physiol       Date:  2018-09-07       Impact factor: 4.566

Review 9.  Clinical aspects of Emery-Dreifuss muscular dystrophy.

Authors:  Agnieszka Madej-Pilarczyk
Journal:  Nucleus       Date:  2018-01-01       Impact factor: 4.197
  9 in total

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