Andreu AL - Search Results

1

Clinical characteristics of COVID-19 in older adults. A retrospective study in long-term nursing homes in Catalonia.

Meis-Pinheiro U, Lopez-Segui F, Walsh S, Ussi A, Santaeugenia S, Garcia-Navarro JA, San-Jose A, Andreu AL, Campins M, Almirante B. Meis-Pinheiro U, et al. Among authors: andreu al. PLoS One. 2021 Jul 23;16(7):e0255141. doi: 10.1371/journal.pone.0255141. eCollection 2021. PLoS One. 2021. PMID: 34297774 Free PMC article.

2

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.

Nogales-Gadea G, Mormeneo E, García-Consuegra I, Rubio JC, Orozco A, Arenas J, Martín MA, Lucia A, Gómez-Foix AM, Martí R, Andreu AL. Nogales-Gadea G, et al. Among authors: andreu al. PLoS One. 2010 Oct 5;5(10):e13164. doi: 10.1371/journal.pone.0013164. PLoS One. 2010. PMID: 20957198 Free PMC article.

3

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.

Nogales-Gadea G, Consuegra-García I, Rubio JC, Arenas J, Cuadros M, Camara Y, Torres-Torronteras J, Fiuza-Luces C, Lucia A, Martín MA, García-Arumí E, Andreu AL. Nogales-Gadea G, et al. Among authors: andreu al. PLoS One. 2012;7(2):e31718. doi: 10.1371/journal.pone.0031718. Epub 2012 Feb 9. PLoS One. 2012. PMID: 22347505 Free PMC article.

4

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

Nogales-Gadea G, Pinós T, Lucia A, Arenas J, Camara Y, Brull A, de Luna N, Martín MA, Garcia-Arumí E, Martí R, Andreu AL. Nogales-Gadea G, et al. Among authors: andreu al. Brain. 2012 Jul;135(Pt 7):2048-57. doi: 10.1093/brain/aws141. Epub 2012 Jun 21. Brain. 2012. PMID: 22730558

5

PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

de Luna N, Brull A, Lucia A, Santalla A, Garatachea N, Martí R, Andreu AL, Pinós T. de Luna N, et al. Among authors: andreu al. Neuromuscul Disord. 2014 Dec;24(12):1079-86. doi: 10.1016/j.nmd.2014.08.002. Epub 2014 Aug 21. Neuromuscul Disord. 2014. PMID: 25240406

6

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.

de Luna N, Brull A, Guiu JM, Lucia A, Martin MA, Arenas J, Martí R, Andreu AL, Pinós T. de Luna N, et al. Among authors: andreu al. Dis Model Mech. 2015 May;8(5):467-72. doi: 10.1242/dmm.020230. Epub 2015 Mar 11. Dis Model Mech. 2015. PMID: 25762569 Free PMC article.

7

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

Brull A, de Luna N, Blanco-Grau A, Lucia A, Martin MA, Arenas J, Martí R, Andreu AL, Pinós T. Brull A, et al. Among authors: andreu al. J Physiol. 2015 Jun 15;593(12):2693-706. doi: 10.1113/JP270085. Epub 2015 May 18. J Physiol. 2015. PMID: 25873271 Free PMC article.

8

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

Nogales-Gadea G, Brull A, Santalla A, Andreu AL, Arenas J, Martín MA, Lucia A, de Luna N, Pinós T. Nogales-Gadea G, et al. Among authors: andreu al. Hum Mutat. 2015 Jul;36(7):669-78. doi: 10.1002/humu.22806. Epub 2015 Jun 3. Hum Mutat. 2015. PMID: 25914343 Review.

9

Minimal symptoms in McArdle disease: A real PYGM genotype effect?

Pinós T, Lucia A, Arenas J, Brull A, Andreu AL, Martin MA, Nogales-Gadea G. Pinós T, et al. Among authors: andreu al. Muscle Nerve. 2015 Dec;52(6):1136-7. doi: 10.1002/mus.24789. Epub 2015 Sep 24. Muscle Nerve. 2015. PMID: 26228546 No abstract available.

10

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

Garcia-Consuegra I, Blázquez A, Rubio JC, Arenas J, Ballester-Lopez A, González-Quintana A, Andreu AL, Pinós T, Coll-Cantí J, Lucia A, Nogales-Gadea G, Martín MA. Garcia-Consuegra I, et al. Among authors: andreu al. Genet Med. 2016 Nov;18(11):1128-1135. doi: 10.1038/gim.2015.219. Epub 2016 Feb 25. Genet Med. 2016. PMID: 26913921 Free article.

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