Literature DB >> 25783436

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.

Amandine Sevy1, Mathieu Cerino2, Svetlana Gorokhova3, Eugénie Dionnet3, Yves Mathieu3, Annie Verschueren4, Jérôme Franques4, André Maues de Paula5, Dominique Figarella-Branger6, Arnaud Lagarde3, Jean Pierre Desvignes3, Christophe Béroud2, Shahram Attarian1, Nicolas Levy2, Marc Bartoli2, Martin Krahn2, Emmanuelle Campana-Salort1, Jean Pouget1.   

Abstract

Entities:  

Keywords:  MYOPATHY; NEUROGENETICS; NEUROMUSCULAR

Mesh：

Year:  2015        PMID： 25783436     DOI： 10.1136/jnnp-2014-309663

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  9 in total

1.  Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?

Authors:  Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá
Journal:  J Assist Reprod Genet       Date:  2022-01-29       Impact factor: 3.412

2.  Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

Authors:  Svetlana Gorokhova; Mathieu Cerino; Yves Mathieu; Sébastien Courrier; Jean-Pierre Desvignes; David Salgado; Christophe Béroud; Martin Krahn; Marc Bartoli
Journal:  Appl Transl Genom       Date:  2015-09-04

Review 3.  Increasing Role of Titin Mutations in Neuromuscular Disorders.

Authors:  Marco Savarese; Jaakko Sarparanta; Anna Vihola; Bjarne Udd; Peter Hackman
Journal:  J Neuromuscul Dis       Date:  2016-08-30

4.  Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.

Authors:  Valérie Biancalana; Jocelyn Laporte
Journal:  J Neuromuscul Dis       Date:  2015-09-02

5.  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

6.  Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

Authors:  Ivana Babić Božović; Aleš Maver; Lea Leonardis; Marija Meznaric; Damjan Osredkar; Borut Peterlin
Journal:  PLoS One       Date:  2021-06-09       Impact factor: 3.240

7.  An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.

Authors:  Chiara Gemelli; Monica Traverso; Lucia Trevisan; Sabrina Fabbri; Elena Scarsi; Barbara Carlini; Valeria Prada; Tiziana Mongini; Lucia Ruggiero; Serena Patrone; Salvatore Gallone; Rosa Iodice; Livia Pisciotta; Federico Zara; Paola Origone; Eugenia Rota; Carlo Minetti; Claudio Bruno; Angelo Schenone; Paola Mandich; Chiara Fiorillo; Marina Grandis
Journal:  Muscle Nerve       Date:  2021-11-08       Impact factor: 3.852

8.  Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.

Authors:  Li-Xi Li; Shao-Yun Zhao; Zhi-Jun Liu; Wang Ni; Hong-Fu Li; Bao-Guo Xiao; Zhi-Ying Wu
Journal:  Oncotarget       Date:  2016-05-10

9.  VarAFT: a variant annotation and filtration system for human next generation sequencing data.

Authors:  Jean-Pierre Desvignes; Marc Bartoli; Valérie Delague; Martin Krahn; Morgane Miltgen; Christophe Béroud; David Salgado
Journal:  Nucleic Acids Res       Date:  2018-07-02       Impact factor: 16.971
  9 in total

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