Literature DB >> 22486197

An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps.

M Fanin, F Benedicenti, C Fritegotto, A C Nascimbeni, E Peterle, F Stanzial, A Cristofoletti, C Castellan, C Angelini.   

Abstract

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Year:  2012        PMID： 22486197     DOI： 10.1111/j.1399-0004.2012.01873.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

1.  Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.

Authors:  Satish V Khadilkar; Chetan R Chaudhari; Rashna S Dastur; Pradnya S Gaitonde; Jayendra G Yadav
Journal:  Ann Indian Acad Neurol       Date:  2016 Jan-Mar       Impact factor: 1.383

Review 2.  Limb-girdle Muscular Dystrophies in India: A Review.

Authors:  Satish V Khadilkar; Hinaben Dayalal Faldu; Sarika Bapuso Patil; Rakesh Singh
Journal:  Ann Indian Acad Neurol       Date:  2017 Apr-Jun       Impact factor: 1.383

3.  Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.

Authors:  Iván Landires; Virginia Núñez-Samudio; Julián Fernandez; Cesar Sarria; Víctor Villareal; Fernando Córdoba; Giovanni Apráez-Ippolito; Samuel Martínez; Oscar M Vidal; Jorge I Vélez; Mauricio Arcos-Holzinger; Sergio Landires; Mauricio Arcos-Burgos
Journal:  Genes (Basel)       Date:  2020-01-25       Impact factor: 4.096

4.  LGMD. Identification, description and classification.

Authors:  Corrado Angelini
Journal:  Acta Myol       Date:  2020-12-01

5.  Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.

Authors:  Valentina Pegoraro; Corrado Angelini
Journal:  Genes (Basel)       Date:  2021-01-12       Impact factor: 4.096

Review 6.  Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations.

Authors:  Jaione Lasa-Elgarresta; Laura Mosqueira-Martín; Neia Naldaiz-Gastesi; Amets Sáenz; Adolfo López de Munain; Ainara Vallejo-Illarramendi
Journal:  Int J Mol Sci       Date:  2019-09-13       Impact factor: 5.923
  6 in total

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