Juan C Rubio
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Explore the profile of Juan C Rubio including associated specialties, affiliations and a list of published articles.
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19
Citations
522
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Recent Articles
11.
Rubio J, Gomez-Gallego F, Santiago C, Garcia-Consuegra I, Perez M, Barriopedro M, et al.
Neurosci Lett
. 2007 Jul;
422(3):217-22.
PMID: 17630210
The phenotypic manifestation of McArdle disease varies considerably from one individual to the next. The purpose of this study was to assess the possible association between the clinical severity of...
12.
Mate-Munoz J, Moran M, Perez M, Chamorro-Vina C, Gomez-Gallego F, Santiago C, et al.
Clin J Sport Med
. 2007 Jul;
17(4):297-303.
PMID: 17620784
Objective: This study reports acute exercise responses in a large (N = 46) series of patients with McArdle disease and responses to exercise training in a smaller (n = 9)...
13.
Lucia A, Gomez-Gallego F, Santiago C, Perez M, Mate-Munoz J, Chamorro-Vina C, et al.
Neuromuscul Disord
. 2007 Jun;
17(8):603-10.
PMID: 17560787
We assessed the possible association existing between alpha-actinin-3 (ACTN3) R577X genotypes and the capacity for performing aerobic exercise in McArdle's patients. Forty adult McArdle's disease patients and forty healthy, age...
14.
Rubio J, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A, et al.
Hum Mutat
. 2007 Jan;
28(2):203-4.
PMID: 17221871
McArdle disease is a metabolic myopathy due to molecular defects in the myophosphorylase gene (PYGM), usually diagnosed in muscle biopsy. The aims of this study were to characterize genetically a...
15.
Rubio J, Lucia A, Fernandez-Cadenas I, Cabello A, Blazquez A, Gamez J, et al.
Arch Neurol
. 2006 Dec;
63(12):1782-4.
PMID: 17172620
Background: McArdle disease is a common metabolic disorder characterized by marked exercise intolerance, premature fatigue during exertion, myalgia, and cramps. Despite the wide knowledge of the molecular basis of McArdle...
16.
Rubio J, Martin M, Rabadan M, Gomez-Gallego F, San Juan A, Alonso J, et al.
J Appl Physiol (1985)
. 2005 Jan;
98(6):2108-12.
PMID: 15677729
The C34T mutation in the gene encoding for the skeletal muscle-specific isoform of AMP deaminase (AMPD1) is a common mutation among Caucasians (i.e., one of five individuals) that can impair...
17.
Arpa J, Cruz-Martinez A, Campos Y, Gutierrez-Molina M, Garcia-Rio F, Perez-Conde C, et al.
Muscle Nerve
. 2003 Nov;
28(6):690-5.
PMID: 14639582
We report 50 patients with various clinical phenotypes of mitochondrial disease studied over the past 10 years in a large urban area (Madrid Health Area 5). The clinical phenotypes showed...
18.
Perez-Carreras M, del Hoyo P, Martin M, Rubio J, Martin A, Castellano G, et al.
Hepatology
. 2003 Sep;
38(4):999-1007.
PMID: 14512887
Mitochondrial dysfunction might play a central role in the pathogenesis of nonalcoholic steatohepatitis (NASH). The aims of this study were to evaluate whether free fatty acid (FFA) transport into the...
19.
Gamez J, Rubio J, Martin M, Fernandez-Cadenas I, Garcia-Arumi E, Andreu A, et al.
Muscle Nerve
. 2003 Aug;
28(3):380-2.
PMID: 12929201
We report on a Spanish family with myophosphorylase (EC 2.4.1.1) deficiency (McArdle's disease). The proband and his symptomatic sister were compound heterozygous for two novel mutations: a T-to-G transversion in...