Literature DB >> 25625149

The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome).

Jean-Claude Kaplan, Dalil Hamroun.   

Abstract

Entities:  

Mesh：

Year:  2014        PMID： 25625149     DOI： 10.1016/j.nmd.2014.11.001

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


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  17 in total

1.  More severe disease and slower recovery in younger patients with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase-associated autoimmune myopathy.

Authors:  Eleni Tiniakou; Iago Pinal-Fernandez; Thomas E Lloyd; Jemima Albayda; Julie Paik; Jessie L Werner; Cassie A Parks; Livia Casciola-Rosen; Lisa Christopher-Stine; Andrew L Mammen
Journal:  Rheumatology (Oxford)       Date:  2017-05-01       Impact factor: 7.580

2.  In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy.

Authors:  Luc Mercier; Johann Böhm; Nina Fekonja; Guillaume Allio; Yves Lutz; Marc Koch; Jacky G Goetz; Jocelyn Laporte
Journal:  Intravital       Date:  2016-04-06

Review 3.  Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.

Authors:  Marwa M Nabhan; Nour ElKhateeb; Daniela A Braun; Sungho Eun; Sahar N Saleem; Heon YungGee; Friedhelm Hildebrandt; Neveen A Soliman
Journal:  Am J Med Genet A       Date:  2017-08-17       Impact factor: 2.802

4.  Normal muscle structure, growth, development, and regeneration.

Authors:  Wladimir Bocca Vieira de Rezende Pinto; Paulo Victor Sgobbi de Souza; Acary Souza Bulle Oliveira
Journal:  Curr Rev Musculoskelet Med       Date:  2015-06

5.  Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Authors:  Sergio Alejandro Rodríguez-Quiroga; Marta Cordoba; Dolores González-Morón; Nancy Medina; Patricia Vega; Cecilia Vazquez Dusefante; Tomoko Arakaki; Nélida Susana Garretto; Marcelo Andres Kauffman
Journal:  Genet Res (Camb)       Date:  2015       Impact factor: 1.588

6.  The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Authors:  Marco Savarese; Giuseppina Di Fruscio; Annalaura Torella; Chiara Fiorillo; Francesca Magri; Marina Fanin; Lucia Ruggiero; Giulia Ricci; Guja Astrea; Luigia Passamano; Alessandra Ruggieri; Dario Ronchi; Giorgio Tasca; Adele D'Amico; Sandra Janssens; Olimpia Farina; Margherita Mutarelli; Veer Singh Marwah; Arcomaria Garofalo; Teresa Giugliano; Simone Sampaolo; Francesca Del Vecchio Blanco; Gaia Esposito; Giulio Piluso; Paola D'Ambrosio; Roberta Petillo; Olimpia Musumeci; Carmelo Rodolico; Sonia Messina; Anni Evilä; Peter Hackman; Massimiliano Filosto; Giuseppe Di Iorio; Gabriele Siciliano; Marina Mora; Lorenzo Maggi; Carlo Minetti; Sabrina Sacconi; Lucio Santoro; Kathleen Claes; Liliana Vercelli; Tiziana Mongini; Enzo Ricci; Francesca Gualandi; Rossella Tupler; Jan De Bleecker; Bjarne Udd; Antonio Toscano; Maurizio Moggio; Elena Pegoraro; Enrico Bertini; Eugenio Mercuri; Corrado Angelini; Filippo Maria Santorelli; Luisa Politano; Claudio Bruno; Giacomo Pietro Comi; Vincenzo Nigro
Journal:  Neurology       Date:  2016-06-08       Impact factor: 9.910

7.  Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease.

Authors:  Gerben J Schaaf; Tom J M van Gestel; Esther Brusse; Robert M Verdijk; Irenaeus F M de Coo; Pieter A van Doorn; Ans T van der Ploeg; W W M Pim Pijnappel
Journal:  Acta Neuropathol Commun       Date:  2015-10-28       Impact factor: 7.801

Review 8.  Disrupted autophagy undermines skeletal muscle adaptation and integrity.

Authors:  Elliot J Jokl; Gonzalo Blanco
Journal:  Mamm Genome       Date:  2016-08-02       Impact factor: 2.957

Review 9.  Next-generation sequencing in neuromuscular diseases.

Authors:  Stephanie Efthymiou; Andreea Manole; Henry Houlden
Journal:  Curr Opin Neurol       Date:  2016-10       Impact factor: 5.710

10.  A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

Authors:  Dorota Monies; Hindi N Alhindi; Mohamed A Almuhaizea; Mohamed Abouelhoda; Anas M Alazami; Ewa Goljan; Banan Alyounes; Dyala Jaroudi; Abdulelah AlIssa; Khalid Alabdulrahman; Shazia Subhani; Mohamed El-Kalioby; Tariq Faquih; Salma M Wakil; Nada A Altassan; Brian F Meyer; Saeed Bohlega
Journal:  Hum Genomics       Date:  2016-09-27       Impact factor: 4.639
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