Detalhe da pesquisa
1.
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
Int J Mol Sci
; 23(9)2022 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563042
2.
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Hum Mutat
; 41(2): 420-431, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31608518
3.
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.
Int J Mol Sci
; 21(24)2020 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33348688
4.
Missense mutations have unexpected consequences: The McArdle disease paradigm.
Hum Mutat
; 39(10): 1338-1343, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30011114
5.
Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model.
J Physiol
; 596(6): 1035-1061, 2018 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315579
6.
Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
J Inherit Metab Dis
; 41(6): 1295, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030676
7.
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
J Inherit Metab Dis
; 41(6): 1027-1035, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29926259
8.
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
BMC Genomics
; 18(Suppl 8): 819, 2017 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29143597
9.
Rodent models for resolving extremes of exercise and health.
Physiol Genomics
; 48(2): 82-92, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26395598
10.
Genes and exercise intolerance: insights from McArdle disease.
Physiol Genomics
; 48(2): 93-100, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26465709
11.
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Genet Med
; 18(11): 1128-1135, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26913921
12.
Proteasome inhibition with bortezomib depletes plasma cells and specific autoantibody production in primary thymic cell cultures from early-onset myasthenia gravis patients.
J Immunol
; 193(3): 1055-1063, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24973445
13.
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Hum Mutat
; 36(7): 669-78, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25914343
14.
Specific contactin N-glycans are implicated in neurofascin binding and autoimmune targeting in peripheral neuropathies.
J Biol Chem
; 289(11): 7907-18, 2014 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24497634
15.
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
J Inherit Metab Dis
; 38(2): 221-30, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25053163
16.
Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.
J Pathol
; 233(3): 258-68, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24604766
17.
Clinical and scientific aspects of acetylcholine receptor myasthenia gravis.
Curr Opin Neurol
; 27(5): 552-7, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25105461
18.
Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy.
Ann Neurol
; 73(3): 370-80, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23280477
19.
Myotilinopathy unmasked by statin treatment: A case report.
Muscle Nerve
; 57(6): E138-E140, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29350769
20.
Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.
Brain
; 135(Pt 7): 2048-57, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22730558