Literature DB >> 7580247

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

K M Bushby1, J S Beckmann.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1995        PMID: 7580247     DOI: 10.1016/0960-8966(95)00005-8

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


× No keyword cloud information.
  37 in total

1.  Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation.

Authors:  E M McNally; M R Passos-Bueno; C G Bönnemann; M Vainzof; E de Sá Moreira; H G Lidov; K B Othmane; P H Denton; J M Vance; M Zatz; L M Kunkel
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

2.  Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion?

Authors:  R Pogue; T Jackson; B Sayli; A Curtis; K M Bushby
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

3.  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

4.  Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Authors:  M R Passos-Bueno; E S Moreira; S K Marie; R Bashir; L Vasquez; D R Love; M Vainzof; P Iughetti; J R Oliveira; E Bakker; T Strachan; K Bushby; M Zatz
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

5.  A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.

Authors:  P Dinçer; Z Akçören; E Demir; I Richard; O Sancak; G Kale; S Ozme; A Karaduman; E Tan; J A Urtizberea; J S Beckmann; H Topaloğlu
Journal:  J Med Genet       Date:  2000-05       Impact factor: 6.318

6.  Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

Authors:  A J van der Kooi; M van Meegen; T M Ledderhof; E M McNally; M de Visser; P A Bolhuis
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

7.  Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Authors:  A Carrié; F Piccolo; F Leturcq; C de Toma; K Azibi; C Beldjord; J M Vallat; L Merlini; T Voit; C Sewry; J A Urtizberea; N Romero; F M Tomé; M Fardeau; Y Sunada; K P Campbell; J C Kaplan; M Jeanpierre
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

8.  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

9.  Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.

Authors:  Fatiha El Kerch; Ilham Ratbi; Aziza Sbiti; Fatima-Zohra Laarabi; Amina Barkat; Abdelaziz Sefiani
Journal:  Genet Test Mol Biomarkers       Date:  2014-02-19

10.  Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes.

Authors:  I Stec; W Kress; G Meng; B Müller; C R Müller; T Grimm
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.