Literature DB >> 27818383

Dominant LGMD2A: alternative diagnosis or hidden digenism?

Amets Sáenz1,2, Adolfo López de Munain3,2,4,5.   

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Year:  2016        PMID： 27818383     DOI： 10.1093/brain/aww281

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  4 in total

Review 1.  Myofibrillar myopathy in the genomic context.

Authors:  Jakub Piotr Fichna; Aleksandra Maruszak; Cezary Żekanowski
Journal:  J Appl Genet       Date:  2018-09-10       Impact factor: 3.240

2.  Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Authors:  Jakub Piotr Fichna; Anna Macias; Marcin Piechota; Michał Korostyński; Anna Potulska-Chromik; Maria Jolanta Redowicz; Cezary Zekanowski
Journal:  Hum Genomics       Date:  2018-07-03       Impact factor: 4.639

3.  A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.

Authors:  Patrizia Spadafora; Antonio Qualtieri; Francesca Cavalcanti; Gemma Di Palma; Olivier Gallo; Selene De Benedittis; Annamaria Cerantonio; Luigi Citrigno
Journal:  Int J Mol Sci       Date:  2022-08-11       Impact factor: 6.208

Review 4.  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
  4 in total

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