Search Results - "Andreu, A.L"

Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment? by Villarreal-Salazar, M., Santalla, A., Real-Martínez, A., Nogales-Gadea, G., Valenzuela, P.L., Fiuza-Luces, C., Andreu, A.L., Rodríguez-Aguilera, J.C., Martín, M.A., Arenas, J., Vissing, J., Lucia, A., Krag, T.O., Pinós, T.

“…McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. A hallmark of this condition is…”
Get full text

P.5.12 A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology by Kubota, A, Melia, M.J, Ortolano, S, Vilchez, J.J, Gamez, J, Tanji, K, Bonilla, E, Palenzuela, L, Fernandez-Cadenas, I, Pristoupilova, A, Garcia-Arumi, E, Andreu, A.L, Navarro, C, Marti, R, Hirano, M

“…Limb-girdle muscular dystrophy 1F (LGMD1F) is an autosomal dominant muscular disease affecting a Spanish family. Using whole genome sequencing, we identified a…”
Get full text

Mitochondrial DNA oxidation and manganese superoxide dismutase activity in peripheral blood mononuclear cells from type 2 diabetic patients by García-Ramírez, M, Francisco, G, García-Arumí, E, Hernández, C, Martínez, R, Andreu, A.L, Simó, R

“…Abstract Aim To investigate the balance between parameters of oxidative stress and antioxidant defences in the mitochondria of peripheral blood mononuclear…”
Get full text

Effect of an ambulatory diagnostic and treatment programme in patients with sleep apnoea by ANDREU, A. L, CHINER, E, SANCHO-CHUST, J. N, PASTOR, E, LLOMBART, M, GOMEZ-MERINO, E, SENENT, C, BARBE, F

“…The aim of this study to evaluate the efficacy of a home-based programme on clinical response, continuous positive airway pressure (CPAP) compliance and cost…”
Get full text

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease by FERNANDEZ-CADENAS, I, ANDREU, A. L, GAMEZ, J, GONZALO, R, MARTIN, M. A, RUBIO, J. C, ARENAS, J

“…The authors report the molecular findings in a patient with McArdle disease who harbored a silent polymorphism (K608K) in the myophosphorylase gene. cDNA…”
Get full text

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2 by Palenzuela, L, Andreu, A L, Gàmez, J, Vilà, M R, Kunimatsu, T, Meseguer, A, Cervera, C, Fernandez Cadenas, I, van der Ven, P F M, Nygaard, T G, Bonilla, E, Hirano, M

“…In 2001, the authors described the clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using a…”
Get full text

McArdle disease: Another systemic low-inflammation disorder? by Lucia, Alejandro, Smith, Lucille, Naidoo, Melissa, González-Freire, Marta, Pérez, Margarita, Rubio, Juan C., Martín, Miguel A., Andreu, A.L., Arenas, Joaquín

“…McArdle disease is caused by inherited deficit of human muscle glycogen phosphorylase with subsequent blockade in muscle glycogenolysis. Patients usually…”
Get full text

Reversion of mtDNA depletion in a patient with TK2 deficiency by VILA, M. R, SEGOVIA-SILVESTRE, T, ANDREU, A. L, GAMEZ, J, MARINA, A, NAINI, A. B, MESEGUER, A, LOMBES, A, BONILLA, E, DIMAURO, S, HIRANO, M

“…Mutations in the thymidine kinase 2 (TK2) gene cause a myopathic form of the mitochondrial DNA depletion syndrome (MDS). Here, the authors report the unusual…”
Get full text

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene by Paradas, C., Fernandez-Cadenas, I., Gallardo, E., Lligé, D., Arenas, J., Illa, I., Andreu, A.L.

“…We report a Spanish family with muscle glycogen phosphorylase (PYGM) deficiency (McArdle's disease) harbouring a novel compound genotype (A659D/L586P). Four…”
Get full text

Autosomal dominant limb-girdle muscular dystrophy : A large kindred with evidence for anticipation by GAMEZ, J, NAVARRO, C, HIRANO, M, CERVERA, C, ANDREU, A. L, FERNANDEZ, J. M, PALENZUELA, L, TEJEIRA, S, FERNANDEZ-HOJAS, R, SCHWARTZ, S, KARADIMAS, C, DIMAURO, S

“…Fourteen genetically distinct forms of limb-girdle muscular dystrophy (LGMD) have been identified, including five types of autosomal dominant LGMD (AD-LGMD)…”
Get full text

Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE by Blazquez, A., Martín, M.A., Lara, M.C., Martí, R., Campos, Y., Cabello, A., Garesse, R., Bautista, J., Andreu, A.L., Arenas, J.

“…We studied a patient with the cardinal features of mitochondrial gastrointestinal encephalomyopathy (MNGIE). Two of his siblings showed a similar clinical…”
Get full text

Acute Pneumonitis and Adult Respiratory Distress Syndrome After Subcutaneous Injection of Liquid Silicone by Pastor, E., Andreu, A.L., Chiner, E.

Get full text

Bronchopneumonia Due to Nocardia asteroides in a Man With Chronic Obstructive Pulmonary Disease by Díez-García, M.J., Andreu, A.L., Chiner, E.

Get full text

Neumonitis aguda y síndrome de distrés respiratorio del adulto tras inyección subcutánea de silicona líquida by Pastor, E., Andreu, A.L., Chiner, E.

Get full text

Description of a New Procedure for Fiberoptic Brochoscopy During Noninvasive Ventilation Through a Nasal Mask in Patients With Acute Rspitatory Failure by Chiner, E., Llombart, M., Signes-Costa, J., Andreu, A.L., Gómez-Merino, E., Pastor, E., Arriero, J.M.

“…A new method is described for performing oral fiberoptic bronchoscopy during noninvasive ventilation through the nose. The technique was successfully applied…”
Get full text

A new mtDNA mutation in the tRNALeu(UUR) gene associated with ocular myopathy by Campos, Y, Gámez, J, Garcı́a, A, Andreu, A.L, Rubio, J.C, Martı́n, M.A, del Hoyo, P, Navarro, C, Cervera, C, Garesse, R, Arenas, J

Get full text

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA Ser(UCN) gene by Sue, C.M., Tanji, K., Hadjigeorgiou, G., Andreu, A.L., Nishino, I., Krishna, S., Bruno, C., Hirano, M., Shanske, S., Bonilla, E., Fischel-Ghodsian, N., DiMauro, S., Friedman, R.

Get full text

A new mtDNA mutation in the tRNA Leu(UUR) gene associated with ocular myopathy by Campos, Y, Gámez, J, Garcı́a, A, Andreu, A.L, Rubio, J.C, Martı́n, M.A, del Hoyo, P, Navarro, C, Cervera, C, Garesse, R, Arenas, J

“…We studied a patient with ptosis, ophthalmoparesis, and exercise intolerance who showed in her muscle biopsy ragged-red fibers and combined defects of the…”
Get full text

A new mitochondrial DNA mutation (A3288G) in the tRNA Leu(UUR) gene associated with familial myopathy by Hadjigeorgiou, G.M., Kim, S.H., Fischbeck, K.H., Andreu, A.L., Berry, G.T., Bingham, P., Shanske, S., Bonilla, E., DiMauro, S.

“…We describe a family with a maternally inherited mitochondrial myopathy and an A3288G mutation in the tRNA Leu(UUR) gene. The proband had muscle cramping and…”
Get full text

Bronconeumonía por Nocardia asteroides en paciente con EPOC by Díez-García, M.J., Andreu, A.L., Chiner, E.

Get full text