Literature DB >> 28615910

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.

Clara Gómez-González1, Maria Isabel Esteban-Rodríguez2, Yolanda Ruano3, Elena Vallespín1, Pablo Lapunzina1, Paloma Martínez1, Samuel I Pascual2, Jesús Molano1, Carmen Prior1.   

Abstract

Entities:  

Year:  2017        PMID： 28615910      PMCID： PMC5470170          DOI： 10.4103/aian.AIAN_432_16

Source DB:  PubMed          Journal:  Ann Indian Acad Neurol        ISSN： 0972-2327            Impact factor:   1.383


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  4 in total

1.  Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.

Authors:  Marc Bartoli; Carinne Roudaut; Samia Martin; Françoise Fougerousse; Laurence Suel; Jérôme Poupiot; Evelyne Gicquel; Fanny Noulet; Olivier Danos; Isabelle Richard
Journal:  Mol Ther       Date:  2005-11-14       Impact factor: 11.454

2.  Calpainopathy-a survey of mutations and polymorphisms.

Authors:  I Richard; C Roudaut; A Saenz; R Pogue; J E Grimbergen; L V Anderson; C Beley; A M Cobo; C de Diego; B Eymard; P Gallano; H B Ginjaar; A Lasa; C Pollitt; H Topaloglu; J A Urtizberea; M de Visser; A van der Kooi; K Bushby; E Bakker; A Lopez de Munain; M Fardeau; J S Beckmann
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

3.  Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

Authors:  M Urtasun; A Sáenz; C Roudaut; J J Poza; J A Urtizberea; A M Cobo; I Richard; F García Bragado; F Leturcq; J C Kaplan; J F Martí Massó; J S Beckmann; A López de Munain
Journal:  Brain       Date:  1998-09       Impact factor: 13.501

4.  The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.

Authors:  Marina Fanin; Anna Chiara Nascimbeni; Luigi Fulizio; Corrado Angelini
Journal:  Neuromuscul Disord       Date:  2005-01-28       Impact factor: 4.296
  4 in total

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