Literature DB >> 31791870

The 2020 version of the gene table of neuromuscular disorders (nuclear genome).

Louise Benarroch1, Gisèle Bonne2, François Rivier3, Dalil Hamroun4.   

Abstract

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Year:  2019        PMID： 31791870     DOI： 10.1016/j.nmd.2019.10.010

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


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  22 in total

1.  A novel fast-channel myasthenia caused by mutation in β subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating.

Authors:  Xin-Ming Shen; Li Di; Shelley Shen; Yuying Zhao; Ann M Neumeyer; Duygu Selcen; Steven M Sine; Andrew G Engel
Journal:  Exp Neurol       Date:  2020-06-03       Impact factor: 5.330

Review 2.  Correction of muscular dystrophies by CRISPR gene editing.

Authors:  Francesco Chemello; Rhonda Bassel-Duby; Eric N Olson
Journal:  J Clin Invest       Date:  2020-06-01       Impact factor: 14.808

Review 3.  MR imaging of inherited myopathies: a review and proposal of imaging algorithms.

Authors:  Laís Uyeda Aivazoglou; Julio Brandão Guimarães; Thomas M Link; Maria Alice Freitas Costa; Fabiano Nassar Cardoso; Bruno de Mattos Lombardi Badia; Igor Braga Farias; Wladimir Bocca Vieira de Rezende Pinto; Paulo Victor Sgobbi de Souza; Acary Souza Bulle Oliveira; Alzira Alves de Siqueira Carvalho; André Yui Aihara; Artur da Rocha Corrêa Fernandes
Journal:  Eur Radiol       Date:  2021-04-21       Impact factor: 5.315

4.  Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Authors:  Samya Chakravorty; Babi Ramesh Reddy Nallamilli; Satish Vasant Khadilkar; Madhu Bala Singla; Ashish Bhutada; Rashna Dastur; Pradnya Satish Gaitonde; Laura E Rufibach; Logan Gloster; Madhuri Hegde
Journal:  Front Neurol       Date:  2020-11-05       Impact factor: 4.086

Review 5.  Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Authors:  Jaakko Sarparanta; Per Harald Jonson; Sabita Kawan; Bjarne Udd
Journal:  Int J Mol Sci       Date:  2020-02-19       Impact factor: 5.923

6.  Toward the correction of muscular dystrophy by gene editing.

Authors:  Eric N Olson
Journal:  Proc Natl Acad Sci U S A       Date:  2021-04-30       Impact factor: 11.205

7.  Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.

Authors:  Borut Peterlin; Francesca Gualandi; Ales Maver; Serenella Servidei; Silvère M van der Maarel; Francoise Lamy; Alexander Mejat; Teresinha Evangelista; Alessandra Ferlini
Journal:  PLoS One       Date:  2020-09-18       Impact factor: 3.240

8.  Theragnosis for Duchenne Muscular Dystrophy.

Authors:  Leonela Luce; Micaela Carcione; Chiara Mazzanti; Paula I Buonfiglio; Viviana Dalamón; Lilia Mesa; Alberto Dubrovsky; José Corderí; Florencia Giliberto
Journal:  Front Pharmacol       Date:  2021-06-03       Impact factor: 5.810

Review 9.  An Omics View of Emery-Dreifuss Muscular Dystrophy.

Authors:  Nicolas Vignier; Antoine Muchir
Journal:  J Pers Med       Date:  2020-06-15

10.  Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.

Authors:  Matthew J Jennings; Angela Lochmüller; Antonio Atalaia; Rita Horvath
Journal:  J Neuromuscul Dis       Date:  2021
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