Literature DB >> 32100198

Identification of a novel PYGM mutation in a McArdle disease patient misdiagnosed as hypokalemic periodic paralysis.

R R Xie1, Y B Yang1, P Jin2.   

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Year:  2020        PMID: 32100198     DOI: 10.1007/s40618-020-01202-y

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN: 0391-4097            Impact factor:   4.256


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  3 in total

1.  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

2.  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 3.  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 in total
  1 in total

Review 1.  Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.

Authors:  Mónica Villarreal-Salazar; Astrid Brull; Gisela Nogales-Gadea; Antoni L Andreu; Miguel A Martín; Joaquín Arenas; Alfredo Santalla; Alejandro Lucia; John Vissing; Thomas O Krag; Tomàs Pinós
Journal:  Genes (Basel)       Date:  2021-12-28       Impact factor: 4.096

  1 in total

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