243 related articles for article (PubMed ID: 35052414)
1. Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.
Villarreal-Salazar M; Brull A; Nogales-Gadea G; Andreu AL; Martín MA; Arenas J; Santalla A; Lucia A; Vissing J; Krag TO; Pinós T
Genes (Basel); 2021 Dec; 13(1):. PubMed ID: 35052414
[TBL] [Abstract][Full Text] [Related]
2. 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
Dis Model Mech; 2015 May; 8(5):467-72. PubMed ID: 25762569
[TBL] [Abstract][Full Text] [Related]
3. McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.
Llavero F; Arrazola Sastre A; Luque Montoro M; Gálvez P; Lacerda HM; Parada LA; Zugaza JL
Int J Mol Sci; 2019 Nov; 20(23):. PubMed ID: 31775340
[TBL] [Abstract][Full Text] [Related]
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
Brain; 2012 Jul; 135(Pt 7):2048-57. PubMed ID: 22730558
[TBL] [Abstract][Full Text] [Related]
5. Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.
McNamara EL; Taylor RL; Clayton JS; Goullee H; Dilworth KL; Pinós T; Brull A; Alexander IE; Lisowski L; Ravenscroft G; Laing NG; Nowak KJ
Hum Mol Genet; 2020 Jan; 29(1):20-30. PubMed ID: 31511858
[TBL] [Abstract][Full Text] [Related]
6. The effect of muscle glycogen phosphorylase (Pygm) knockdown on zebrafish morphology.
Migocka-Patrzałek M; Lewicka A; Elias M; Daczewska M
Int J Biochem Cell Biol; 2020 Jan; 118():105658. PubMed ID: 31747538
[TBL] [Abstract][Full Text] [Related]
7. McArdle disease: molecular genetic update.
Andreu AL; Nogales-Gadea G; Cassandrini D; Arenas J; Bruno C
Acta Myol; 2007 Jul; 26(1):53-7. PubMed ID: 17915571
[TBL] [Abstract][Full Text] [Related]
8. Muscle Glycogen Phosphorylase and Its Functional Partners in Health and Disease.
Migocka-Patrzałek M; Elias M
Cells; 2021 Apr; 10(4):. PubMed ID: 33924466
[TBL] [Abstract][Full Text] [Related]
9. Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.
Krag TO; Pinós T; Nielsen TL; Brull A; Andreu AL; Vissing J
J Neuropathol Exp Neurol; 2016 May; 75(5):441-54. PubMed ID: 27030740
[TBL] [Abstract][Full Text] [Related]
10. The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
Nogales-Gadea G; Santalla A; Brull A; de Luna N; Lucia A; Pinós T
J Inherit Metab Dis; 2015 Mar; 38(2):221-30. PubMed ID: 25053163
[TBL] [Abstract][Full Text] [Related]
11. Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.
Pizzamiglio C; Mahroo OA; Khan KN; Patasin M; Quinlivan R
J Inherit Metab Dis; 2021 Nov; 44(6):1409-1418. PubMed ID: 34534370
[TBL] [Abstract][Full Text] [Related]
12. 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
Neuromuscul Disord; 2014 Dec; 24(12):1079-86. PubMed ID: 25240406
[TBL] [Abstract][Full Text] [Related]
13. Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
Ortuño-Costela MDC; Cerrada V; Moreno-Izquierdo A; García-Consuegra I; Laberthonnière C; Delourme M; Garesse R; Arenas J; Fuster García C; García García G; Millán JM; Magdinier F; Gallardo ME
Int J Mol Sci; 2022 Nov; 23(22):. PubMed ID: 36430443
[TBL] [Abstract][Full Text] [Related]
14. Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey.
Slipsager A; Andersen LK; Voermans NC; Lucia A; Karazi W; Santalla A; Vissing J; Løkken N
Neuromuscul Disord; 2024 Jan; 34():19-26. PubMed ID: 38042739
[TBL] [Abstract][Full Text] [Related]
15. Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.
Nielsen TL; Pinós T; Brull A; Vissing J; Krag TO
Mol Genet Metab; 2018 Jan; 123(1):21-27. PubMed ID: 29174367
[TBL] [Abstract][Full Text] [Related]
16. Genes and exercise intolerance: insights from McArdle disease.
Nogales-Gadea G; Godfrey R; Santalla A; Coll-Cantí J; Pintos-Morell G; Pinós T; Arenas J; Martín MA; Lucia A
Physiol Genomics; 2016 Feb; 48(2):93-100. PubMed ID: 26465709
[TBL] [Abstract][Full Text] [Related]
17. McArdle disease: a unique study model in sports medicine.
Santalla A; Nogales-Gadea G; Ørtenblad N; Brull A; de Luna N; Pinós T; Lucia A
Sports Med; 2014 Nov; 44(11):1531-44. PubMed ID: 25028051
[TBL] [Abstract][Full Text] [Related]
18. Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Núñez-Manchón J; Ballester-Lopez A; Koehorst E; Linares-Pardo I; Coenen D; Ara I; Rodriguez-Lopez C; Ramos-Fransi A; Martínez-Piñeiro A; Lucente G; Almendrote M; Coll-Cantí J; Pintos-Morell G; Santos-Lozano A; Arenas J; Martín MA; de Castro M; Lucia A; Santalla A; Nogales-Gadea G
J Inherit Metab Dis; 2018 Nov; 41(6):1027-1035. PubMed ID: 29926259
[TBL] [Abstract][Full Text] [Related]
19. Absence of p.R50X
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
Dis Model Mech; 2020 Jan; 13(1):. PubMed ID: 31848135
[TBL] [Abstract][Full Text] [Related]
20. Diagnosis and genetic analysis of a case with glycogen storage disease type V caused by compound heterozygous mutations in the PYGM gene.
Jiang WZ; Xu YW; Wang YW; Zhu XC; Gong YY; Zhou HW; Fu ZZ
Yi Chuan; 2022 Nov; 44(11):1063-1071. PubMed ID: 36384998
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]