Literature DB >> 22250299

The 2012 version of the gene table of monogenic neuromuscular disorders.

Jean-Claude Kaplan1.   

Abstract

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Year:  2011        PMID： 22250299     DOI： 10.1016/j.nmd.2011.10.008

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


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  10 in total

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Review 6.  Zebrafish models flex their muscles to shed light on muscular dystrophies.

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7.  Congenital myopathy is caused by mutation of HACD1.

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8.  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

9.  Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Authors:  Emily J Todd; Kyle S Yau; Royston Ong; Jennie Slee; George McGillivray; Christopher P Barnett; Goknur Haliloglu; Beril Talim; Zuhal Akcoren; Ariana Kariminejad; Anita Cairns; Nigel F Clarke; Mary-Louise Freckmann; Norma B Romero; Denise Williams; Caroline A Sewry; Alison Colley; Monique M Ryan; Cathy Kiraly-Borri; Padma Sivadorai; Richard J N Allcock; David Beeson; Susan Maxwell; Mark R Davis; Nigel G Laing; Gianina Ravenscroft
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10.  Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

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  10 in total

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