Literature DB >> 24446552

The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

Jean-Claude Kaplan, Dalil Hamroun.   

Abstract

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Year:  2013        PMID： 24446552     DOI： 10.1016/j.nmd.2013.10.006

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  14 in total

1.  Congenital myopathies: Natural history of a large pediatric cohort.

Authors:  Irene Colombo; Mariacristina Scoto; Adnan Y Manzur; Stephanie A Robb; Lorenzo Maggi; Vasantha Gowda; Thomas Cullup; Michael Yau; Rahul Phadke; Caroline Sewry; Heinz Jungbluth; Francesco Muntoni
Journal:  Neurology       Date:  2014-11-26       Impact factor: 9.910

Review 2.  Recent advances using zebrafish animal models for muscle disease drug discovery.

Authors:  Lisa Maves
Journal:  Expert Opin Drug Discov       Date:  2014-06-14       Impact factor: 6.098

3.  Integrative data mining highlights candidate genes for monogenic myopathies.

Authors:  Osorio Abath Neto; Olivier Tassy; Valérie Biancalana; Edmar Zanoteli; Olivier Pourquié; Jocelyn Laporte
Journal:  PLoS One       Date:  2014-10-29       Impact factor: 3.240

Review 4.  Splicing modulation therapy in the treatment of genetic diseases.

Authors:  Virginia Arechavala-Gomeza; Bernard Khoo; Annemieke Aartsma-Rus
Journal:  Appl Clin Genet       Date:  2014-12-04

5.  Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

Authors:  Svetlana Gorokhova; Mathieu Cerino; Yves Mathieu; Sébastien Courrier; Jean-Pierre Desvignes; David Salgado; Christophe Béroud; Martin Krahn; Marc Bartoli
Journal:  Appl Transl Genom       Date:  2015-09-04

6.  A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.

Authors:  Maria Isabel Bahamonde; Selma Angèlica Serra; Oliver Drechsel; Rubayte Rahman; Anna Marcé-Grau; Marta Prieto; Stephan Ossowski; Alfons Macaya; José M Fernández-Fernández
Journal:  PLoS One       Date:  2015-12-30       Impact factor: 3.240

7.  MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Authors:  Marco Savarese; Giuseppina Di Fruscio; Margherita Mutarelli; Annalaura Torella; Francesca Magri; Filippo Maria Santorelli; Giacomo Pietro Comi; Claudio Bruno; Vincenzo Nigro
Journal:  Acta Neuropathol Commun       Date:  2014-09-11       Impact factor: 7.801

8.  Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy.

Authors:  Joachim Berger; Hakan Tarakci; Silke Berger; Mei Li; Thomas E Hall; Anders Arner; Peter D Currie
Journal:  Dis Model Mech       Date:  2014-10-02       Impact factor: 5.758

9.  Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Authors:  Xia Tian; Wen-Chen Liang; Yanming Feng; Jing Wang; Victor Wei Zhang; Chih-Hung Chou; Hsien-Da Huang; Ching Wan Lam; Ya-Yun Hsu; Thy-Sheng Lin; Wan-Tzu Chen; Lee-Jun Wong; Yuh-Jyh Jong
Journal:  Neurol Genet       Date:  2015-08-13

10.  Molecular Signatures of Membrane Protein Complexes Underlying Muscular Dystrophy.

Authors:  Rolf Turk; Jordy J Hsiao; Melinda M Smits; Brandon H Ng; Tyler C Pospisil; Kayla S Jones; Kevin P Campbell; Michael E Wright
Journal:  Mol Cell Proteomics       Date:  2016-04-20       Impact factor: 5.911
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