Literature DB >> 7719146

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies.

K M Bushby1.   

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Year:  1995        PMID： 7719146     DOI： 10.1016/0960-8966(93)e0006-g

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


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  27 in total

1.  ["Therapy-resistant polymyositis" - is the diagnosis correct?]

Authors:  G Ceccon; H C Lehmann; E Neuen-Jacob; G Meng; G R Fink; G Wunderlich
Journal:  Z Rheumatol       Date:  2017-09       Impact factor: 1.372

2.  Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Authors:  Pushpa Narayanaswami; Michael Weiss; Duygu Selcen; William David; Elizabeth Raynor; Gregory Carter; Matthew Wicklund; Richard J Barohn; Erik Ensrud; Robert C Griggs; Gary Gronseth; Anthony A Amato
Journal:  Neurology       Date:  2014-10-14       Impact factor: 9.910

3.  Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.

Authors:  Wen Zheng; Han Chen; Xiong Deng; Lamei Yuan; Yan Yang; Zhi Song; Zhijian Yang; Yuan Wu; Hao Deng
Journal:  Mol Neurobiol       Date:  2015-09-21       Impact factor: 5.590

4.  Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.

Authors:  P Nicolao; F Xiang; L G Gunnarsson; B Giometto; L Edström; M Anvret; Z Zhang
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

Review 5.  Respiratory involvement in inherited primary muscle conditions.

Authors:  N Shahrizaila; W J M Kinnear; A J Wills
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-10       Impact factor: 10.154

6.  Diagnosis and treatment of limb-girdle and distal dystrophies: Payment policy perspectives.

Authors:  Raghav Govindarajan; Katie M Shepard; Lyell K Jones
Journal:  Neurol Clin Pract       Date:  2015-10

7.  Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

Authors:  Matthew B Harms; R Brian Sommerville; Peggy Allred; Shaughn Bell; Duanduan Ma; Paul Cooper; Glenn Lopate; Alan Pestronk; Conrad C Weihl; Robert H Baloh
Journal:  Ann Neurol       Date:  2012-02-14       Impact factor: 10.422

8.  A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein.

Authors:  Telma L F Gouveia; Patrícia M Kossugue; Julia F Paim; Mayana Zatz; Louise V B Anderson; Vincenzo Nigro; Mariz Vainzof
Journal:  J Mol Med (Berl)       Date:  2007-01-30       Impact factor: 4.599

9.  Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients.

Authors:  B H Kiyomoto; C H Tengan; C K Costa; A S Oliveira; B Schmidt; A A Gabbai
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-04       Impact factor: 10.154

10.  Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.

Authors:  L V Anderson; K Davison; J A Moss; I Richard; M Fardeau; F M Tomé; C Hübner; A Lasa; J Colomer; J S Beckmann
Journal:  Am J Pathol       Date:  1998-10       Impact factor: 4.307
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