Brull A - Search Results

1

Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.

Krag TO, Pinós T, Nielsen TL, Brull A, Andreu AL, Vissing J. Krag TO, et al. Among authors: brull a. J Neuropathol Exp Neurol. 2016 May;75(5):441-54. doi: 10.1093/jnen/nlw018. Epub 2016 Mar 30. J Neuropathol Exp Neurol. 2016. PMID: 27030740

2

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: brull a. Brain. 2012 Jul;135(Pt 7):2048-57. doi: 10.1093/brain/aws141. Epub 2012 Jun 21. Brain. 2012. PMID: 22730558

3

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: brull a. 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

4

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: brull a. 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.

5

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. 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.

6

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: brull a. Hum Mutat. 2015 Jul;36(7):669-78. doi: 10.1002/humu.22806. Epub 2015 Jun 3. Hum Mutat. 2015. PMID: 25914343 Review.

7

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.

Nielsen TL, Pinós T, Brull A, Vissing J, Krag TO. Nielsen TL, et al. Among authors: brull a. Mol Genet Metab. 2018 Jan;123(1):21-27. doi: 10.1016/j.ymgme.2017.11.006. Epub 2017 Nov 21. Mol Genet Metab. 2018. PMID: 29174367

8

Clinical utility gene card for McArdle disease.

Taylor RL, Davis M, Turner E, Brull A, Pinos T, Cabrera M, Nowak KJ. Taylor RL, et al. Among authors: brull a. Eur J Hum Genet. 2018 May;26(5):758-764. doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25. Eur J Hum Genet. 2018. PMID: 29371640 Free PMC article.

9

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.

Real-Martinez A, Brull A, Huerta J, Tarrasó G, Lucia A, Martin MA, Arenas J, Andreu AL, Nogales-Gadea G, Vissing J, Krag TO, de Luna N, Pinós T. Real-Martinez A, et al. Among authors: brull a. Sci Rep. 2019 Mar 26;9(1):5116. doi: 10.1038/s41598-019-41414-8. Sci Rep. 2019. PMID: 30914683 Free PMC article.

10

Absence of p.R50X Pygm read-through in McArdle disease cellular models.

Tarrasó G, Real-Martinez A, Parés M, Romero-Cortadellas L, Puigros L, Moya L, de Luna N, Brull A, Martín MA, Arenas J, Lucia A, Andreu AL, Barquinero J, Vissing J, Krag TO, Pinós T. Tarrasó G, et al. Among authors: brull a. Dis Model Mech. 2020 Jan 13;13(1):dmm043281. doi: 10.1242/dmm.043281. Dis Model Mech. 2020. PMID: 31848135 Free PMC article.

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