Juan C Rubio
Overview
Explore the profile of Juan C Rubio including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
19
Citations
522
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Amate-Garcia G, Ballesta-Martinez M, Serrano-Lorenzo P, Garrido-Moraga R, Gonzalez-Quintana A, Blazquez A, et al.
Int J Mol Sci
. 2023 Jan;
24(2).
PMID: 36675256
We report a neonatal patient with hypertrophic cardiomyopathy (HCM), lactic acidosis and isolated complex I deficiency. Using a customized next-generation sequencing panel, we identified a novel hemizygous variant c.338G>A in...
2.
Serrano-Lorenzo P, Rabasa M, Esteban J, Hidalgo Mayoral I, Dominguez-Gonzalez C, Blanco-Echevarria A, et al.
Genes (Basel)
. 2022 Oct;
13(10).
PMID: 36292720
Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the LDHA gene. We...
3.
Nogales-Gadea G, Consuegra-Garcia I, Rubio J, Arenas J, Cuadros M, Camara Y, et al.
PLoS One
. 2012 Feb;
7(2):e31718.
PMID: 22347505
McArdle disease is caused by lack of glycogen phosphorylase (GP) activity in skeletal muscle. Patients experience exercise intolerance, presenting as early fatigue and contractures. In this study, we investigated the...
4.
Lucia A, Ruiz J, Santalla A, Nogales-Gadea G, Rubio J, Garcia-Consuegra I, et al.
J Neurol Neurosurg Psychiatry
. 2012 Jan;
83(3):322-8.
PMID: 22250184
Background: Published genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their...
5.
Lucia A, Martin M, Esteve-Lanao J, San Juan A, Rubio J, Olivan J, et al.
BMJ Case Rep
. 2011 Jun;
2009.
PMID: 21686757
The case is reported of an elite, male, white endurance runner (28 years of age), who is one of the best non-African runners in the world despite carrying the C34T...
6.
Nogales-Gadea G, Mormeneo E, Garcia-Consuegra I, Rubio J, Orozco A, Arenas J, et al.
PLoS One
. 2010 Oct;
5(10).
PMID: 20957198
Background: Mutations in the PYGM gene encoding skeletal muscle glycogen phosphorylase (GP) cause a metabolic disorder known as McArdle's disease. Previous studies in muscle biopsies and cultured muscle cells from...
7.
Bedoya F, Rubio J, Morales-Gutierrez C, Abad-Barahona A, Pablos D, Meneu J, et al.
Oncology
. 2009 May;
76(6):435-41.
PMID: 19420965
The cannabinoid receptor-1 (CNR-1) and endogenous agonists of this receptor are present in the central and peripheral nervous systems including the gastrointestinal nervous system. The surgically rejected specimens of human...
8.
Muniesa C, Gonzalez-Freire M, Santiago C, Lao J, Buxens A, Rubio J, et al.
Br J Sports Med
. 2008 Sep;
44(12):898-901.
PMID: 18801770
In this study, genotype frequencies of several polymorphisms that are candidates to influence sports performance (ie, ACTN3 R577X, ACE ID, PPARGC1A Gly482Ser, AMPD1 C34T, CKMM 985bp/1170bp and GDF8 (myostatin) K153R)...
9.
Lucia A, Smith L, Naidoo M, Gonzalez-Freire M, Perez M, Rubio J, et al.
Neurosci Lett
. 2007 Dec;
431(2):106-11.
PMID: 18162322
McArdle disease is caused by inherited deficit of human muscle glycogen phosphorylase with subsequent blockade in muscle glycogenolysis. Patients usually experience severe exercise intolerance and 'chronic' skeletal muscle damage. We...
10.
Perez M, Mate-Munoz J, Foster C, Rubio J, Andreu A, Martin M, et al.
J Child Neurol
. 2007 Aug;
22(7):880-2.
PMID: 17715283
We report the exercise capacity of an 8-year-old boy with clinical, histological, biochemical, and genetic evidence of McArdle disease. The patient presented with severe myalgia, proteinuria, hematuria, pyrexia, and elevated...