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Items: 1 to 50 of 54

1.

A novel mutation in the valosin-containing-protein gene found in a Spanish family.

Lucente G, Almendrote M, Ramos-Fransi A, Martínez-Piñeiro A, Camaño P, Ballester-Lopez A, Lucia A, Carrato C, Nogales-Gadea G, Coll-Cantí J.

J Neurol Sci. 2018 Aug 15;391:112-113. doi: 10.1016/j.jns.2018.06.010. Epub 2018 Jun 13. No abstract available.

PMID:
30103957
2.

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
3.

Missense mutations have unexpected consequences: The McArdle disease paradigm.

García-Consuegra I, Asensio-Peña S, Ballester-Lopez A, Francisco-Velilla R, Pinos T, Pintos-Morell G, Coll-Cantí J, González-Quintana A, Andreu AL, Arenas J, Lucia A, Nogales-Gadea G, Martín MA.

Hum Mutat. 2018 Oct;39(10):1338-1343. doi: 10.1002/humu.23591. Epub 2018 Jul 26.

PMID:
30011114
4.

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
5.

Non-osteogenic muscle hypertrophy in children with McArdle disease.

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

J Inherit Metab Dis. 2018 Nov;41(6):1037-1042. doi: 10.1007/s10545-018-0170-7. Epub 2018 Mar 28.

PMID:
29594644
6.

Myotilinopathy unmasked by statin treatment: A case report.

Ramos-Fransi A, Martínez-Piñeiro A, Almendrote M, Lucente G, Carrato C, Ballester-Lopez A, Lucia A, Pintos-Morell G, Nogales-Gadea G, Coll-Cantí J.

Muscle Nerve. 2018 Jun;57(6):E138-E140. doi: 10.1002/mus.26078. Epub 2018 Feb 2. No abstract available.

PMID:
29350769
7.

Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model.

Fiuza-Luces C, Santos-Lozano A, Llavero F, Campo R, Nogales-Gadea G, Díez-Bermejo J, Baladrón C, González-Murillo Á, Arenas J, Martín MA, Andreu AL, Pinós T, Gálvez BG, López JA, Vázquez J, Zugaza JL, Lucia A.

J Physiol. 2018 Mar 15;596(6):1035-1061. doi: 10.1113/JP275292. Epub 2018 Feb 14.

PMID:
29315579
8.

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
9.

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, Coll-Cantí J, Pareja-Galeano H, Díez-Bermejo J, Pérez M, Andreu AL, Pinós T, Arenas J, Martín MA, Lucia A.

BMC Genomics. 2017 Nov 14;18(Suppl 8):819. doi: 10.1186/s12864-017-4188-2.

10.

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy.

Querol L, Siles AM, Alba-Rovira R, Jáuregui A, Devaux J, Faivre-Sarrailh C, Araque J, Rojas-Garcia R, Diaz-Manera J, Cortés-Vicente E, Nogales-Gadea G, Navas-Madroñal M, Gallardo E, Illa I.

Sci Rep. 2017 Oct 31;7(1):14411. doi: 10.1038/s41598-017-14853-4.

11.

Characterization of an anti-fetal AChR monoclonal antibody isolated from a myasthenia gravis patient.

Saxena A, Stevens J, Cetin H, Koneczny I, Webster R, Lazaridis K, Tzartos S, Vrolix K, Nogales-Gadea G, Machiels B, Molenaar PC, Damoiseaux J, De Baets MH, Simon-Keller K, Marx A, Vincent A, Losen M, Martinez-Martinez P.

Sci Rep. 2017 Oct 31;7(1):14426. doi: 10.1038/s41598-017-14350-8.

12.

Low versus high carbohydrates in the diet of the world-class athlete: insights from McArdle's disease.

Nogales-Gadea G, Santalla A, Arenas J, Martín MA, Morán M, Lucia A.

J Physiol. 2017 May 1;595(9):2991-2992. doi: 10.1113/JP274060. No abstract available.

13.

Delivery is key: lessons learnt from developing splice-switching antisense therapies.

Godfrey C, Desviat LR, Smedsrød B, Piétri-Rouxel F, Denti MA, Disterer P, Lorain S, Nogales-Gadea G, Sardone V, Anwar R, El Andaloussi S, Lehto T, Khoo B, Brolin C, van Roon-Mom WM, Goyenvalle A, Aartsma-Rus A, Arechavala-Gomeza V.

EMBO Mol Med. 2017 May;9(5):545-557. doi: 10.15252/emmm.201607199. Review.

14.

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.

Genet Med. 2016 Nov;18(11):1128-1135. doi: 10.1038/gim.2015.219. Epub 2016 Feb 25.

PMID:
26913921
15.

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
16.

Niemann-Pick disease treatment: a systematic review of clinical trials.

Santos-Lozano A, Villamandos García D, Sanchis-Gomar F, Fiuza-Luces C, Pareja-Galeano H, Garatachea N, Nogales Gadea G, Lucia A.

Ann Transl Med. 2015 Dec;3(22):360. doi: 10.3978/j.issn.2305-5839.2015.12.04. Review.

17.

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
18.

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
19.

Rodent models for resolving extremes of exercise and health.

Garton FC, North KN, Koch LG, Britton SL, Nogales-Gadea G, Lucia A.

Physiol Genomics. 2016 Feb;48(2):82-92. doi: 10.1152/physiolgenomics.00077.2015. Epub 2015 Sep 22. Review.

20.

Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease.

Nogales-Gadea G, Pinós T, Andreu AL, Martín MA, Arenas J, Lucia A.

Genet Med. 2015 Aug;17(8):679-80. doi: 10.1038/gim.2015.76. No abstract available.

PMID:
26240973
21.

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
22.

Generation of Recombinant Human IgG Monoclonal Antibodies from Immortalized Sorted B Cells.

Nogales-Gadea G, Saxena A, Hoffmann C, Hounjet J, Coenen D, Molenaar P, Losen M, Martinez-Martinez P.

J Vis Exp. 2015 Jun 5;(100):e52830. doi: 10.3791/52830.

23.

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.

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

PMID:
25914343
24.

McArdle disease does not affect skeletal muscle fibre type profiles in humans.

Kohn TA, Noakes TD, Rae DE, Rubio JC, Santalla A, Nogales-Gadea G, Pinós T, Martín MA, Arenas J, Lucia A.

Biol Open. 2014 Nov 28;3(12):1224-7. doi: 10.1242/bio.20149548.

25.

Clinical and scientific aspects of acetylcholine receptor myasthenia gravis.

Keijzers M, Nogales-Gadea G, de Baets M.

Curr Opin Neurol. 2014 Oct;27(5):552-7. doi: 10.1097/WCO.0000000000000125. Review.

PMID:
25105461
26.

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. doi: 10.1007/s10545-014-9743-2. Epub 2014 Jul 23.

PMID:
25053163
27.

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. doi: 10.1007/s40279-014-0223-5. Review.

PMID:
25028051
28.

Proteasome inhibition with bortezomib depletes plasma cells and specific autoantibody production in primary thymic cell cultures from early-onset myasthenia gravis patients.

Gomez AM, Willcox N, Vrolix K, Hummel J, Nogales-Gadea G, Saxena A, Duimel H, Verheyen F, Molenaar PC, Buurman WA, De Baets MH, Martinez-Martinez P, Losen M.

J Immunol. 2014 Aug 1;193(3):1055-1063. doi: 10.4049/jimmunol.1301555. Epub 2014 Jun 27.

29.

Analysis of serum miRNA profiles of myasthenia gravis patients.

Nogales-Gadea G, Ramos-Fransi A, Suárez-Calvet X, Navas M, Rojas-García R, Mosquera JL, Díaz-Manera J, Querol L, Gallardo E, Illa I.

PLoS One. 2014 Mar 17;9(3):e91927. doi: 10.1371/journal.pone.0091927. eCollection 2014.

30.

Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.

Suárez-Calvet X, Gallardo E, Nogales-Gadea G, Querol L, Navas M, Díaz-Manera J, Rojas-Garcia R, Illa I.

J Pathol. 2014 Jul;233(3):258-68. doi: 10.1002/path.4346. Epub 2014 Apr 29.

PMID:
24604766
31.

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg.

Querol L, Nogales-Gadea G, Rojas-Garcia R, Diaz-Manera J, Pardo J, Ortega-Moreno A, Sedano MJ, Gallardo E, Berciano J, Blesa R, Dalmau J, Illa I.

Neurology. 2014 Mar 11;82(10):879-86. doi: 10.1212/WNL.0000000000000205. Epub 2014 Feb 12.

32.

Specific contactin N-glycans are implicated in neurofascin binding and autoimmune targeting in peripheral neuropathies.

Labasque M, Hivert B, Nogales-Gadea G, Querol L, Illa I, Faivre-Sarrailh C.

J Biol Chem. 2014 Mar 14;289(11):7907-18. doi: 10.1074/jbc.M113.528489. Epub 2014 Feb 4.

33.

Clinical and molecular characterization of McArdle's disease in Brazilian patients.

Gurgel-Giannetti J, Nogales-Gadea G, van der Linden H Jr, Bellard TM, Brasileiro Filho G, Giannetti AV, de Castro Concentino EL, Vainzof M.

Neuromolecular Med. 2013 Sep;15(3):470-5. doi: 10.1007/s12017-013-8233-2. Epub 2013 May 8.

PMID:
23653251
34.

Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy.

Querol L, Nogales-Gadea G, Rojas-Garcia R, Martinez-Hernandez E, Diaz-Manera J, Suárez-Calvet X, Navas M, Araque J, Gallardo E, Illa I.

Ann Neurol. 2013 Mar;73(3):370-80. doi: 10.1002/ana.23794. Epub 2012 Dec 31.

PMID:
23280477
35.

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. doi: 10.1093/brain/aws141. Epub 2012 Jun 21.

PMID:
22730558
36.

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.

PLoS One. 2012;7(2):e31718. doi: 10.1371/journal.pone.0031718. Epub 2012 Feb 9.

37.

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, García-Consuegra I, Cabello A, Pérez M, Teijeira S, Vieitez I, Navarro C, Arenas J, Martin MA, Andreu AL.

J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):322-8. doi: 10.1136/jnnp-2011-301593. Epub 2012 Jan 16.

PMID:
22250184
38.

Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort.

Nogales-Gadea G, Pinós T, Ruiz JR, Marzo PF, Fiuza-Luces C, López-Gallardo E, Ruiz-Pesini E, Martín MA, Arenas J, Morán M, Andreu AL, Lucia A.

Mitochondrion. 2011 Nov;11(6):905-8. doi: 10.1016/j.mito.2011.08.002. Epub 2011 Aug 11.

PMID:
21856449
39.

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort.

Pinós T, Nogales-Gadea G, Ruiz JR, Rodríguez-Romo G, Santiago-Dorrego C, Fiuza-Luces C, Gómez-Gallego F, Cano-Nieto A, Garatachea N, Morán M, Angel Martín M, Arenas J, Andreu AL, Lucia A.

Age (Dordr). 2012 Feb;34(1):227-33. doi: 10.1007/s11357-011-9209-5. Epub 2011 Jan 28.

40.

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.

PLoS One. 2010 Oct 5;5(10). pii: e13164. doi: 10.1371/journal.pone.0013164.

41.

Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients.

Rae DE, Noakes TD, San Juan AF, Pérez M, Nogales-Gadea G, Ruiz JR, Morán M, Martín MA, Andreu AL, Arenas J, Lucia A.

Eur J Appl Physiol. 2010 Nov;110(5):1047-55. doi: 10.1007/s00421-010-1585-5. Epub 2010 Aug 4.

PMID:
20683610
42.

The second wind phenomenon in very young McArdle's patients.

Pérez M, Ruiz JR, Fernández Del Valle M, Nogales-Gadea G, Andreu AL, Arenas J, Lucía A.

Neuromuscul Disord. 2009 Jun;19(6):403-5. doi: 10.1016/j.nmd.2009.04.010. Epub 2009 May 27.

PMID:
19477644
43.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA.

Hum Genet. 2009 Apr;125(3):343. No abstract available.

PMID:
19320016
44.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA.

Hum Genet. 2009 Apr;125(3):342. No abstract available.

PMID:
19320015
45.

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.

García-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA.

J Med Genet. 2009 Mar;46(3):198-202. doi: 10.1136/jmg.2008.059469.

PMID:
19251976
46.

McArdle disease: what do neurologists need to know?

Lucia A, Nogales-Gadea G, Pérez M, Martín MA, Andreu AL, Arenas J.

Nat Clin Pract Neurol. 2008 Oct;4(10):568-77. doi: 10.1038/ncpneuro0913. Review.

PMID:
18833216
47.

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.

Nogales-Gadea G, Rubio JC, Fernandez-Cadenas I, Garcia-Consuegra I, Lucia A, Cabello A, Garcia-Arumi E, Arenas J, Andreu AL, Martín MA.

Hum Mutat. 2008 Feb;29(2):277-83.

PMID:
17994553
48.

McArdle disease: molecular genetic update.

Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C.

Acta Myol. 2007 Jul;26(1):53-7. Review.

49.

[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent].

Fernandez-Cadenas I, Nogales-Gadea G, Llige D, Rubio JC, Montaner J, Arenas J, Raspall-Chaure M, Roig-Quilis M, Andreu AL.

Rev Neurol. 2007 Sep 1-15;45(5):280-3. Spanish.

50.

Favorable responses to acute and chronic exercise in McArdle patients.

Maté-Muñoz JL, Moran M, Pérez M, Chamorro-Viña C, Gómez-Gallego F, Santiago C, Chicharro L, Foster C, Nogales-Gadea G, Rubio JC, Andreu AL, Martín MA, Arenas J, Lucia A.

Clin J Sport Med. 2007 Jul;17(4):297-303.

PMID:
17620784

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