Literature DB >> 34930546

The 2022 version of the gene table of neuromuscular disorders (nuclear genome).

Enzo Cohen1, Gisèle Bonne2, François Rivier3, Dalil Hamroun4.   

Abstract

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Year:  2021        PMID： 34930546     DOI： 10.1016/j.nmd.2021.11.004

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


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  3 in total

1.  Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.

Authors:  Mathieu Cerino; Patricio González-Hormazábal; Mario Abaji; Sebastien Courrier; Francesca Puppo; Yves Mathieu; Alejandra Trangulao; Nicholas Earle; Claudia Castiglioni; Jorge Díaz; Mario Campero; Ricardo Hughes; Carmen Vargas; Rocío Cortés; Karin Kleinsteuber; Ignacio Acosta; J Andoni Urtizberea; Nicolas Lévy; Marc Bartoli; Martin Krahn; Lilian Jara; Pablo Caviedes; Svetlana Gorokhova; Jorge A Bevilacqua
Journal:  Genes (Basel)       Date:  2022-06-16       Impact factor: 4.141

2.  Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.

Authors:  Ana Cotta; Lucas Santos Souza; Elmano Carvalho; Leticia Nogueira Feitosa; Antonio Cunha; Monica Machado Navarro; Jaquelin Valicek; Miriam Melo Menezes; Simone Vilela Nunes Neves; Rafael Xavier-Neto; Antonio Pedro Vargas; Reinaldo Issao Takata; Julia Filardi Paim; Mariz Vainzof
Journal:  Genes (Basel)       Date:  2022-04-26       Impact factor: 4.141

Review 3.  EMPATIA: A Guide for Communicating the Diagnosis of Neuromuscular Diseases.

Authors:  Isabella Araujo Mota Fernandes; Renata Oliveira Almeida Menezes; Guilhermina Rego
Journal:  Int J Environ Res Public Health       Date:  2022-08-09       Impact factor: 4.614
  3 in total

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