Literature DB >> 26240973

Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease.

Gisela Nogales-Gadea1, Tomàs Pinós2, Antoni L Andreu3, Miguel A Martín4, Joaquin Arenas5, Alejandro Lucia6.   

Abstract

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Year:  2015        PMID： 26240973     DOI： 10.1038/gim.2015.76

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  3 in total

1.  Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

Authors:  Alejandro Lucia; Jonatan R Ruiz; Alfredo Santalla; Gisela Nogales-Gadea; Juan C Rubio; Inés García-Consuegra; Ana Cabello; Margarita Pérez; Susana Teijeira; Irene Vieitez; Carmen Navarro; Joaquín Arenas; Miguel A Martin; Antoni L Andreu
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-01-16       Impact factor: 10.154

Review 2.  McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Authors:  Gisela Nogales-Gadea; Astrid Brull; Alfredo Santalla; Antoni L Andreu; Joaquin Arenas; Miguel A Martín; Alejandro Lucia; Noemi de Luna; Tomàs Pinós
Journal:  Hum Mutat       Date:  2015-06-03       Impact factor: 4.878

3.  Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.

Authors:  Mauricio De Castro; Jennifer Johnston; Leslie Biesecker
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
  3 in total
  3 in total

1.  Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

Authors:  Ines Garcia-Consuegra; Alberto Blázquez; Juan Carlos Rubio; Joaquín Arenas; Alfonsina Ballester-Lopez; Adrián González-Quintana; Antoni L Andreu; Tomàs Pinós; Jaume Coll-Cantí; Alejandro Lucia; Gisela Nogales-Gadea; Miguel A Martín
Journal:  Genet Med       Date:  2016-02-25       Impact factor: 8.822

2.  Response to Nogales-Gadea et al.

Authors:  Mauricio De Castro; Leslie G Biesecker
Journal:  Genet Med       Date:  2015-08       Impact factor: 8.822

3.  The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis.

Authors:  Judith Leyens; Tim Th A Bender; Martin Mücke; Christiane Stieber; Dmitrij Kravchenko; Christian Dernbach; Matthias F Seidel
Journal:  Orphanet J Rare Dis       Date:  2021-07-22       Impact factor: 4.123
  3 in total

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