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Items: 1 to 20 of 42

1.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C.

Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z.

2.

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.

Sci Rep. 2019 Mar 26;9(1):5116. doi: 10.1038/s41598-019-41414-8.

3.

Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.

Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, Cabrera-Pérez R, Martín MÁ, Domínguez-González C, de la Cruz X, Lombès A, García-Arumí E, Martí R, Cámara Y.

FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8.

PMID:
30848931
4.

The Mitochondrial Isoform of FASTK Modulates Nonopsonic Phagocytosis of Bacteria by Macrophages via Regulation of Respiratory Complex I.

García Del Río A, Delmiro A, Martín MA, Cantalapiedra R, Carretero R, Durántez C, Menegotto F, Morán M, Serrano-Lorenzo P, De la Fuente MA, Orduña A, Simarro M.

J Immunol. 2018 Nov 15;201(10):2977-2985. doi: 10.4049/jimmunol.1701075. Epub 2018 Oct 15.

PMID:
30322967
5.

Correction to: 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):1295. doi: 10.1007/s10545-018-0236-6.

PMID:
30030676
6.

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. doi: 10.1007/s10545-018-0203-2. Epub 2018 Jun 20. Erratum in: J Inherit Metab Dis. 2018 Jul 20;:.

PMID:
29926259
7.

A New Condition in McArdle Disease: Poor Bone Health-Benefits of an Active Lifestyle.

Rodríguez-Gómez I, Santalla A, Díez-Bermejo J, Munguía-Izquierdo D, Alegre LM, Nogales-Gadea G, Arenas J, Martín MÁ, Lucía A, Ara I.

Med Sci Sports Exerc. 2018 Jan;50(1):3-10. doi: 10.1249/MSS.0000000000001414.

PMID:
29251685
8.

Rhodamine-based sensor for real-time imaging of mitochondrial ATP in living fibroblasts.

de la Fuente-Herreruela D, Gónzalez-Charro V, Almendro-Vedia VG, Morán M, Martín MÁ, Lillo MP, Natale P, López-Montero I.

Biochim Biophys Acta Bioenerg. 2017 Dec;1858(12):999-1006. doi: 10.1016/j.bbabio.2017.09.004. Epub 2017 Sep 22.

9.

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.

Ortuño-Costela MDC, Rodríguez-Mancera N, García-López M, Zurita-Díaz F, Moreno-Izquierdo A, Lucía A, Martín MÁ, Garesse R, Gallardo ME.

Stem Cell Res. 2017 Aug;23:188-192. doi: 10.1016/j.scr.2017.07.020. Epub 2017 Jul 28.

10.

Muscle fiber type proportion and size is not altered in mcardle disease.

Henning F, Cunninghame CA, Martín MA, Rubio JC, Arenas J, Lucia A, HernáNdez-Laín A, Kohn TA.

Muscle Nerve. 2017 Jun;55(6):916-918. doi: 10.1002/mus.25472. Epub 2016 Dec 16.

PMID:
27859426
11.

Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172].

Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Arenas J, Martín MÁ, Martínez-Azorín F.

Brain Dev. 2016 Sep;38(8):783. doi: 10.1016/j.braindev.2016.04.009. Epub 2016 Apr 29. No abstract available.

PMID:
27138744
12.

Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model.

Fiuza-Luces C, Nogales-Gadea G, García-Consuegra I, Pareja-Galeano H, Rufián-Vázquez L, Pérez LM, Andreu AL, Arenas J, Martín MA, Pinós T, Lucia A, Morán M.

Med Sci Sports Exerc. 2016 Aug;48(8):1448-58. doi: 10.1249/MSS.0000000000000931.

PMID:
27031745
13.

Complex anatomy making it difficult for left atrial appendage closure.

Teijeiro-Mestre R, Alegría-Barrero E, Ruiz-García J, Oyanguren B, Eimil M, Martín MÁ, García E.

Cardiovasc Revasc Med. 2016 Mar;17(2):146-7. doi: 10.1016/j.carrev.2015.12.006. Epub 2015 Dec 24.

PMID:
26857967
14.

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity.

Cruz-Bermúdez A, Vicente-Blanco RJ, Hernández-Sierra R, Montero M, Alvarez J, González Manrique M, Blázquez A, Martín MA, Ayuso C, Garesse R, Fernández-Moreno MA.

PLoS One. 2016 Jan 19;11(1):e0146816. doi: 10.1371/journal.pone.0146816. eCollection 2016.

15.

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

Nogales-Gadea G, Santalla A, Ballester-Lopez A, Arenas J, Martín MA, Godfrey R, Pinós T, Pintos-Morell G, Coll-Cantí J, Lucia A.

Med Sci Sports Exerc. 2016 Apr;48(4):673-9. doi: 10.1249/MSS.0000000000000812. Review.

PMID:
26559449
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. doi: 10.1152/physiolgenomics.00076.2015. Epub 2015 Oct 13. Review.

PMID:
26465709
17.

Intracellular expression of Tat alters mitochondrial functions in T cells: a potential mechanism to understand mitochondrial damage during HIV-1 replication.

Rodríguez-Mora S, Mateos E, Moran M, Martín MÁ, López JA, Calvo E, Terrón MC, Luque D, Muriaux D, Alcamí J, Coiras M, López-Huertas MR.

Retrovirology. 2015 Sep 16;12:78. doi: 10.1186/s12977-015-0203-3.

18.

Mitochondrial Respiration Controls Lysosomal Function during Inflammatory T Cell Responses.

Baixauli F, Acín-Pérez R, Villarroya-Beltrí C, Mazzeo C, Nuñez-Andrade N, Gabandé-Rodriguez E, Ledesma MD, Blázquez A, Martin MA, Falcón-Pérez JM, Redondo JM, Enríquez JA, Mittelbrunn M.

Cell Metab. 2015 Sep 1;22(3):485-98. doi: 10.1016/j.cmet.2015.07.020. Epub 2015 Aug 20.

19.

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.

Muscle Nerve. 2015 Dec;52(6):1136-7. doi: 10.1002/mus.24789. Epub 2015 Sep 24. No abstract available.

PMID:
26228546
20.

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Arenas J, Martín MÁ, Martínez-Azorín F.

Brain Dev. 2016 Jan;38(1):167-72. doi: 10.1016/j.braindev.2015.05.008. Epub 2015 May 23.

PMID:
26006750

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