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Literature DB >> 19320066

Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol 19. No 1 January 2009.

Jean-Claude Kaplan¹.

Abstract

Entities: Disease

Mesh：

Year: 2009 PMID： 19320066 DOI： 10.1016/j.nmd.2008.11.001

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

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14 in total

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2. Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

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Review 4. The role of the neuromuscular medicine and physiatry specialists in the multidisciplinary management of neuromuscular disease.

Authors: Craig M McDonald; William M Fowler
Journal: Phys Med Rehabil Clin N Am Date: 2012-08 Impact factor: 1.784

5. Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.

Authors: Amy R Frost; Sabrina V Böhm; Raj N Sewduth; Dragana Josifova; Caroline Mackie Ogilvie; Louise Izatt; Roland G Roberts
Journal: Eur J Hum Genet Date: 2010-03-17 Impact factor: 4.246

6. Deletion of periostin reduces muscular dystrophy and fibrosis in mice by modulating the transforming growth factor-β pathway.

Authors: Angela Lorts; Jennifer A Schwanekamp; Troy A Baudino; Elizabeth M McNally; Jeffery D Molkentin
Journal: Proc Natl Acad Sci U S A Date: 2012-06-18 Impact factor: 11.205

7. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

Authors: Hulya Gundesli; Beril Talim; Petek Korkusuz; Burcu Balci-Hayta; Sebahattin Cirak; Nurten A Akarsu; Haluk Topaloglu; Pervin Dincer
Journal: Am J Hum Genet Date: 2010-11-25 Impact factor: 11.025