Literature DB >> 29961566

The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

Gisèle Bonne1, François Rivier2, Dalil Hamroun3.   

Abstract

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Mesh：

Year:  2017        PMID： 29961566     DOI： 10.1016/j.nmd.2017.10.005

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


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  12 in total

1.  A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Authors:  Martin Krahn; Valérie Biancalana; Mathieu Cerino; Aurélien Perrin; Laurence Michel-Calemard; Juliette Nectoux; France Leturcq; Céline Bouchet-Séraphin; Cécile Acquaviva-Bourdain; Emmanuelle Campana-Salort; Annamaria Molon; Jon Andoni Urtizberea; Frédérique Audic; Brigitte Chabrol; Jean Pouget; Roseline Froissart; Judith Melki; John Rendu; François Petit; Corinne Métay; Nathalie Seta; Damien Sternberg; Julien Fauré; Mireille Cossée
Journal:  Eur J Hum Genet       Date:  2018-12-14       Impact factor: 4.246

2.  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

3.  An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

Authors:  Raul Juntas Morales; Aurélien Perrin; Guilhem Solé; Delphine Lacourt; Henri Pegeot; Ulrike Walther-Louvier; Pascal Cintas; Claude Cances; Caroline Espil; Corinne Theze; Reda Zenagui; Kevin Yauy; Elodie Cosset; Dimitri Renard; Valerie Rigau; Andre Maues de Paula; Emmanuelle Uro-Coste; Marie-Christine Arne-Bes; Marie-Laure Martin Négrier; Nicolas Leboucq; Blandine Acket; Edoardo Malfatti; Valérie Biancalana; Corinne Metay; Pascale Richard; John Rendu; François Rivier; Michel Koenig; Mireille Cossée
Journal:  Genes (Basel)       Date:  2021-07-31       Impact factor: 4.096

Review 4.  CRISPR Correction of Duchenne Muscular Dystrophy.

Authors:  Yi-Li Min; Rhonda Bassel-Duby; Eric N Olson
Journal:  Annu Rev Med       Date:  2018-10-31       Impact factor: 13.739

5.  Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.

Authors:  Sara Gibertini; Alessandra Ruggieri; Simona Saredi; Franco Salerno; Flavia Blasevich; Laura Napoli; Maurizio Moggio; Vincenzo Nigro; Lucia Morandi; Lorenzo Maggi; Marina Mora
Journal:  Acta Neuropathol Commun       Date:  2018-12-19       Impact factor: 7.801

6.  Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Authors:  Hernan D Gonorazky; Sergey Naumenko; Arun K Ramani; Viswateja Nelakuditi; Pouria Mashouri; Peiqui Wang; Dennis Kao; Krish Ohri; Senthuri Viththiyapaskaran; Mark A Tarnopolsky; Katherine D Mathews; Steven A Moore; Andres N Osorio; David Villanova; Dwi U Kemaladewi; Ronald D Cohn; Michael Brudno; James J Dowling
Journal:  Am J Hum Genet       Date:  2019-02-28       Impact factor: 11.025

7.  A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy.

Authors:  Kun Huang; Fang-Fang Bi; Huan Yang
Journal:  Front Neurol       Date:  2021-11-02       Impact factor: 4.003

8.  Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Authors:  Christine C Bruels; Chengcheng Li; Tonatiuh Mendoza; Jamillah Khan; Hemakumar M Reddy; Elicia A Estrella; Partha S Ghosh; Basil T Darras; Hart G W Lidov; Christina A Pacak; Louis M Kunkel; François Modave; Isabelle Draper; Peter B Kang
Journal:  Mol Genet Genomic Med       Date:  2019-01-28       Impact factor: 2.183

9.  Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.

Authors:  Mandy H Y Tsang; Annie T G Chiu; Bernard M H Kwong; Rui Liang; Mullin H C Yu; Kit-San Yeung; Wetor H L Ho; Christopher C Y Mak; Gordon K C Leung; Steven L C Pei; Jasmine L F Fung; Virginia C N Wong; Francesco Muntoni; Brian H Y Chung; Sophelia H S Chan
Journal:  Mol Genet Genomic Med       Date:  2020-03-10       Impact factor: 2.183

Review 10.  Translational medicine in neuromuscular disorders: from academia to industry.

Authors:  Belinda S Cowling; Leen Thielemans
Journal:  Dis Model Mech       Date:  2019-10-24       Impact factor: 5.758
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