Nutrition, lysosomal proteases, and protein breakdownANDREU, A. L; SCHWARTZ, S.Nutrition (Burbank, Los Angeles County, Calif.). 1995, Vol 11, Num 4, pp 382-387, issn 0899-9007Article

AMPD1 Genotypes and Exercise Capacity in McArdle PatientsRUBO, J. C; PEREZ, M; MATE-MUNOZ, L et al.International journal of sports medicine. 2008, Vol 29, Num 4, pp 331-335, issn 0172-4622, 5 p.Article

Autosomal dominant limb-girdle muscular dystrophy : A large kindred with evidence for anticipationGAMEZ, J; NAVARRO, C; HIRANO, M et al.Neurology. 2001, Vol 56, Num 4, pp 450-454, issn 0028-3878Article

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle diseaseFERNANDEZ, R; NAVARRO, C; MUSUMECI, O et al.Archives of neurology (Chicago). 2000, Vol 57, Num 2, pp 217-219, issn 0003-9942Article

Exercise intolerance due to mutations in the cytochrome B gene of mitochondrial DNAANDREU, A. L; HANNA, M. G; MORGAN-HUGHES, J et al.The New England journal of medicine. 1999, Vol 341, Num 14, pp 1037-1044, issn 0028-4793Article

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathyANDREU, A. L; BRUNO, C; SHANSKE, S et al.Neurology. 1998, Vol 51, Num 5, pp 1444-1447, issn 0028-3878Article

Effect of an ambulatory diagnostic and treatment programme in patients with sleep apnoeaANDREU, A. L; CHINER, E; SANCHO-CHUST, J. N et al.The European respiratory journal. 2012, Vol 39, Num 2, pp 305-312, issn 0903-1936, 8 p.Article

NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated proteinLBPEZ-GALLARDO, E; SOLANO, A; HERRERO-MARTIN, M. D et al.Journal of medical genetics. 2009, Vol 46, Num 1, pp 64-67, issn 0022-2593, 4 p.Article

Genotype-phenotype correlation in the 5703G>A mutation in the tRNA^Asn gene of mitochondrial DNAVIVES-BAUZA, C; DEL TORO, M; SOLANO, A et al.Journal of inherited metabolic disease. 2003, Vol 26, Num 5, pp 507-508, issn 0141-8955, 2 p.Article

Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasisCHUNG, W. K; LUKE, A; LEDUC, C et al.Diabetes (New York, NY). 1999, Vol 48, Num 9, pp 1890-1895, issn 0012-1797Article

Effect of starvation on organ blood flow in the senescent ratGARCIA-ARUMI, E; QUILES, M; LOPEZ-HELLIN, J et al.Archives of physiology and biochemistry. 1997, Vol 105, Num 4, pp 337-341, issn 1381-3455Conference Paper

Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndromeBLANCO-GRAU, A; BONAVENTURA-IBARS, I; COLL-CANTI, J et al.Genes, brain and behavior (Print). 2013, Vol 12, Num 8, pp 812-820, issn 1601-1848, 9 p.Article

Infusion of platelets transiently reduces nucleoside overload in MNGIELARA, M. C; WEISS, B; ILLA, I et al.Neurology. 2006, Vol 67, Num 8, pp 1461-1463, issn 0028-3878, 3 p.Article

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle diseaseFERNANDEZ-CADENAS, I; ANDREU, A. L; GAMEZ, J et al.Neurology. 2003, Vol 61, Num 10, pp 1432-1434, issn 0028-3878, 3 p.Article

Phenotypic variability in a Spanish family with MNGIEGAMEZ, J; FERREIRO, C; ACCARINO, M. L et al.Neurology. 2002, Vol 59, Num 3, pp 455-457, issn 0028-3878Article

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contactGAMEZ, J; FERNANDEZ, R; BRUNO, C et al.Muscle & nerve. 1999, Vol 22, Num 8, pp 1136-1138, issn 0148-639XArticle

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA^Ser(UCN) geneSUE, C. M; TANJI, K; FISCHEL-GHODSIAN, N et al.Neurology. 1999, Vol 52, Num 9, pp 1905-1908, issn 0028-3878Article

The long isoform uncoupling protein-3 (UCP3L) in human energy homeostasisCHUNG, W. K; LUKE, A; ANDREU, A. L et al.International journal of obesity. Supplement. 1999, Vol 23, Num 6, pp S49-S50, issn 1359-6373Conference Paper

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNAGAMEZ, J; PLAYAN, A; ANDREU, A. L et al.Neurology. 1998, Vol 51, Num 1, pp 258-260, issn 0028-3878Article

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIETORRES-TORRONTERAS, J; GOMEZ, A; EIXARCH, H et al.Gene therapy (Basingstoke). 2011, Vol 18, Num 8, pp 795-806, issn 0969-7128, 12 p.Article

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNAGARCIA-CONSUEGRA, I; RUBIO, J. C; NOGALES-GADEA, G et al.Journal of medical genetics. 2009, Vol 46, Num 3, pp 198-202, issn 0022-2593, 5 p.Article

Reversion of mtDNA depletion in a patient with TK2 deficiencyVILA, M. R; SEGOVIA-SILVESTRE, T; ANDREU, A. L et al.Neurology. 2003, Vol 60, Num 7, pp 1203-1205, issn 0028-3878, 3 p.Article

Mitochondrial neurogastrointestinal encephalomyopathy : An autosomal recessive disorder due to thymidine phosphorylase mutationsNISHINO, I; SPINAZZOLA, A; HAMANO, H et al.Annals of neurology. 2000, Vol 47, Num 6, pp 792-800, issn 0364-5134Article

A new mitochondrial DNA mutation (A3288g) in the tRNA^Leu(UUR) gene associated with familial myopathyHADJIGEORGIOU, G. M; KIM, S. H; FISCHBECK, K. H et al.Journal of the neurological sciences. 1999, Vol 164, Num 2, pp 153-157, issn 0022-510XArticle

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 geneANDREU, A. L; TANJI, K; BRUNO, C et al.Annals of neurology. 1999, Vol 45, Num 6, pp 820-823, issn 0364-5134Article