Literature DB >> 22172420

Centronuclear myopathies.

Norma B Romero1, Marc Bitoun.   

Abstract

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Year:  2011        PMID： 22172420     DOI： 10.1016/j.spen.2011.10.006

Source DB:  PubMed          Journal:  Semin Pediatr Neurol        ISSN： 1071-9091            Impact factor:   1.636


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  40 in total

1.  A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Authors:  Macarena Cabrera-Serrano; Fabiola Mavillard; Valerie Biancalana; Eloy Rivas; Bharti Morar; Aurelio Hernández-Laín; Montse Olive; Nuria Muelas; Eduardo Khan; Alejandra Carvajal; Pablo Quiroga; Jordi Diaz-Manera; Mark Davis; Rainiero Ávila; Cristina Domínguez; Norma Beatriz Romero; Juan J Vílchez; David Comas; Nigel G Laing; Jocelyn Laporte; Luba Kalaydjieva; Carmen Paradas
Journal:  Neurology       Date:  2018-06-27       Impact factor: 9.910

2.  DNM2 mutations in Chinese Han patients with centronuclear myopathy.

Authors:  Pengfei Lin; Xinhong Liu; Dandan Zhao; Tingjun Dai; Huamin Wu; Yaoqin Gong; Chuanzhu Yan
Journal:  Neurol Sci       Date:  2016-02-23       Impact factor: 3.307

3.  Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

Authors:  Belinda S Cowling; Thierry Chevremont; Ivana Prokic; Christine Kretz; Arnaud Ferry; Catherine Coirault; Olga Koutsopoulos; Vincent Laugel; Norma B Romero; Jocelyn Laporte
Journal:  J Clin Invest       Date:  2014-02-24       Impact factor: 14.808

4.  Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.

Authors:  Yan Zhao; Zhe Zhao; Hongrui Shen; Qi Bing; Jing Hu
Journal:  Neurol Sci       Date:  2018-09-19       Impact factor: 3.307

Review 5.  Nuclear migration events throughout development.

Authors:  Courtney R Bone; Daniel A Starr
Journal:  J Cell Sci       Date:  2016-05-15       Impact factor: 5.285

6.  Large duplication in MTM1 associated with myotubular myopathy.

Authors:  K Amburgey; M W Lawlor; D Del Gaudio; Y W Cheng; C Fitzpatrick; A Minor; X Li; D Aughton; S Das; A H Beggs; J J Dowling
Journal:  Neuromuscul Disord       Date:  2012-12-28       Impact factor: 4.296

7.  Respiratory motor function in individuals with centronuclear myopathies.

Authors:  Barbara K Smith; Markus S Renno; Meghan M Green; Terry M Sexton; Lee Ann Lawson; Anatole D Martin; Manuela Corti; Barry J Byrne
Journal:  Muscle Nerve       Date:  2015-12-29       Impact factor: 3.217

Review 8.  Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

Authors:  Gianina Ravenscroft; Nigel G Laing; Carsten G Bönnemann
Journal:  Brain       Date:  2014-12-31       Impact factor: 13.501

9.  Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.

Authors:  Laura L Smith; Vandana A Gupta; Alan H Beggs
Journal:  Hum Mol Genet       Date:  2014-02-18       Impact factor: 6.150

10.  SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Authors:  Pankaj B Agrawal; Christopher R Pierson; Mugdha Joshi; Xiaoli Liu; Gianina Ravenscroft; Behzad Moghadaszadeh; Tiffany Talabere; Marissa Viola; Lindsay C Swanson; Göknur Haliloğlu; Beril Talim; Kyle S Yau; Richard J N Allcock; Nigel G Laing; Mark A Perrella; Alan H Beggs
Journal:  Am J Hum Genet       Date:  2014-07-31       Impact factor: 11.025
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