Literature DB >> 17915567

Muscle glycogenoses: an overview.

S Di Mauro1.   

Abstract

Mesh：

Year:  2007        PMID： 17915567      PMCID： PMC2949320     

Source DB:  PubMed          Journal:  Acta Myol        ISSN： 1128-2460


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  30 in total

1.  Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

Authors:  Michael Arad; D Woodrow Benson; Antonio R Perez-Atayde; William J McKenna; Elizabeth A Sparks; Ronald J Kanter; Kate McGarry; J G Seidman; Christine E Seidman
Journal:  J Clin Invest       Date:  2002-02       Impact factor: 14.808

2.  A diagnostic cycle test for McArdle's disease.

Authors:  John Vissing; Ronald G Haller
Journal:  Ann Neurol       Date:  2003-10       Impact factor: 10.422

3.  Echo of silence: silent mutations, RNA splicing, and neuromuscular diseases.

Authors:  Ami Mankodi; Tetsuo Ashizawa
Journal:  Neurology       Date:  2003-11-25       Impact factor: 9.910

4.  Myopathy due to a defect in muscle glycogen breakdown.

Authors:  B McARDLE
Journal:  Clin Sci       Date:  1951-02       Impact factor: 6.124

5.  Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.

Authors:  G M Hadjigeorgiou; N Kawashima; C Bruno; A L Andreu; C M Sue; D J Rigden; A Kawashima; S Shanske; S DiMauro
Journal:  Neuromuscul Disord       Date:  1999-10       Impact factor: 4.296

6.  Surprises of genetic engineering: a possible model of polyglucosan body disease.

Authors:  N Raben; M Danon; N Lu; E Lee; L Shliselfeld; A V Skurat; P J Roach; J C Lawrence ; O Musumeci; S Shanske; S DiMauro; P Plotz
Journal:  Neurology       Date:  2001-06-26       Impact factor: 9.910

Review 7.  Molecular characterization of glycogen storage disease type III.

Authors:  J J Shen; Y T Chen
Journal:  Curr Mol Med       Date:  2002-03       Impact factor: 2.222

Review 8.  Glycogen and its metabolism.

Authors:  Peter J Roach
Journal:  Curr Mol Med       Date:  2002-03       Impact factor: 2.222

9.  Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease.

Authors:  I Fernandez-Cadenas; A L Andreu; J Gamez; R Gonzalo; M A Martín; J C Rubio; J Arenas
Journal:  Neurology       Date:  2003-11-25       Impact factor: 9.910

10.  Phenotype modulators in myophosphorylase deficiency.

Authors:  Andrea Martinuzzi; Elena Sartori; Marina Fanin; Annachiara Nascimbeni; Lucia Valente; Corrado Angelini; Gabriele Siciliano; Tiziana Mongini; Paola Tonin; Giuliano Tomelleri; Antonio Toscano; Luciano Merlini; Laurence A Bindoff; Stefano Bertelli
Journal:  Ann Neurol       Date:  2003-04       Impact factor: 10.422
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  19 in total

1.  Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.

Authors:  Astrid Brull; Noemí de Luna; Albert Blanco-Grau; Alejandro Lucia; Miguel Angel Martin; Joaquin Arenas; Ramon Martí; Antoni L Andreu; Tomàs Pinós
Journal:  J Physiol       Date:  2015-05-18       Impact factor: 5.182

Review 2.  McArdle disease: a unique study model in sports medicine.

Authors:  Alfredo Santalla; Gisela Nogales-Gadea; Niels Ørtenblad; Astrid Brull; Noemi de Luna; Tomàs Pinós; Alejandro Lucia
Journal:  Sports Med       Date:  2014-11       Impact factor: 11.136

3.  The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

Authors:  Gisela Nogales-Gadea; Alfredo Santalla; Astrid Brull; Noemi de Luna; Alejandro Lucia; Tomàs Pinós
Journal:  J Inherit Metab Dis       Date:  2014-07-23       Impact factor: 4.982

4.  Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients.

Authors:  Dale E Rae; Timothy D Noakes; Alejandro F San Juan; Margarita Pérez; Gisela Nogales-Gadea; Jonatan R Ruiz; María Morán; Miguel A Martín; Antoni L Andreu; Joaquín Arenas; Alejandro Lucia
Journal:  Eur J Appl Physiol       Date:  2010-08-04       Impact factor: 3.078

Review 5.  Metabolic myopathies: functional evaluation by different exercise testing approaches.

Authors:  L Volpi; G Ricci; D Orsucci; R Alessi; F Bertolucci; S Piazza; C Simoncini; M Mancuso; G Siciliano
Journal:  Musculoskelet Surg       Date:  2011-03-04

6.  Clinical utility gene card for McArdle disease.

Authors:  Rhonda L Taylor; Mark Davis; Emma Turner; Astrid Brull; Tomás Pinos; Macarena Cabrera; Kristen J Nowak
Journal:  Eur J Hum Genet       Date:  2018-01-25       Impact factor: 4.246

Review 7.  [Metabolic myopathies - an overview].

Authors:  M Lammens; B Schoser
Journal:  Pathologe       Date:  2009-09       Impact factor: 1.011

8.  Neuromuscular forms of glycogen branching enzyme deficiency.

Authors:  C Bruno; D Cassandrini; S Assereto; H Orhan Akman; C Minetti; S Di Mauro
Journal:  Acta Myol       Date:  2007-07

9.  Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

Authors:  Güldal Inal-Gültekin; Bahar Toptaş-Hekimoğlu; Zeliha Görmez; Özlem Gelişin; Hacer Durmuş; Bekir Ergüner; Hüseyin Demirci; Mahmut Ş Sağıroğlu; Yeşim Parman; Feza Deymeer; Hülya Yılmaz-Aydoğan; Sadrettin Pençe; Can Ebru Bekircan-Kurt; Ersin Tan; Sevim Erdem-Özdamar; Duran Üstek; Urs Giger; Oğuz Öztürk; Piraye Serdaroğlu-Oflazer
Journal:  Neuromuscul Disord       Date:  2017-06-16       Impact factor: 4.296

10.  McArdle disease: a case report and review.

Authors:  Alberto Leite; Narciso Oliveira; Manuela Rocha
Journal:  Int Med Case Rep J       Date:  2012-01-20
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