Search Results - "Garre, P."

Low serum uric acid concentration in Parkinson's disease in southern Spain by Jesús, S., Pérez, I., Cáceres-Redondo, M. T., Carrillo, F., Carballo, M., Gómez-Garre, P., Mir, P.

“…Background and purpose Uric acid (UA) is thought to have an antioxidant effect on the central nervous system and may also prevent cerebral damage induced by…”
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Integrating genetic and clinical data to predict impulse control disorders in Parkinson's disease by Jesús, S., Periñán, M. T., Cortés, C., Buiza‐Rueda, D., Macías‐García, D., Adarmes, A., Muñoz‐Delgado, L., Labrador‐Espinosa, M. Á., Tejera‐Parrado, C., Gómez‐Garre, M. P., Mir, P.

“…Background and purpose Impulse control disorders (ICDs) are frequent in Parkinson’s disease (PD), with associated clinical and genetic risk factors. This study…”
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BRCA2 gene: a candidate for clinical testing in familial colorectal cancer type X by Garre, P., Martín, L., Sanz, J., Romero, A., Tosar, A., Bando, I., Llovet, P., Diaque, P., García-Paredes, B., Díaz-Rubio, E., de la Hoya, M., Caldés, T.

“…Familial colorectal cancer type X (FCCX) encompasses a group of families with dominant inheritance pattern of colorectal cancer (CRC) but no alteration in any…”
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Prevalence and clinical features of LRRK2 mutations in patients with Parkinson’s disease in southern Spain by Gao, L., Gómez‐Garre, P., Díaz‐Corrales, F. J., Carrillo, F., Carballo, M., Palomino, A., Díaz‐Martín, J., Mejías, R., Vime, P. J., López‐Barneo, J., Mir, P.

“…Background and purpose:  Mutations in leucine‐rich repeat kinase 2 (LRRK2) gene are associated with both familial and idiopathic Parkinson’s disease (PD),…”
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Lafora disease due to EPM2B mutations : A clinical and genetic study by GOMEZ-ABAD, C, GOMEZ-GARRE, P, GUTIERREZ-DELICADO, E, SAYGI, S, MICHELUCCI, R, TASSINARI, C. A, RODRIGUEZ DE CORDOBA, S, SERRATOSA, J. M

“…To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease. The authors performed a clinical and mutational analysis of…”
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Hepatic disease as the first manifestation of progressive myoclonus epilepsy of lafora by GOMEZ-GARRE, P, GUTIERREZ-DELICADO, E, GOMEZ-ABAD, C, MORALES-CORRALIZA, J, VILLANUEVA, V. E, RODRIGUEZ DE CORDOBA, S, LARRAURI, J, GUTIERREZ, M, BERCIANO, J, SERRATOSA, J. M

“…Lafora disease (LD; progressive myoclonus epilepsy type 2; EPM2) is an autosomal recessive disorder caused by mutations in the EPM2A and EPM2B genes. LD is…”
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Production and purification of cellulase from Aspergillus nidulans AJSU04 under solid-state fermentation using coir pith by Jabasingh, S. Anuradha, Varma, S, Garre, P

“…The present study deals with the production of cellulase from coir pith accumulated as waste with the aid of Aspergillus nidulans AJSU04 and the subsequent…”
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944: Role of BRCA2 in the susceptibility to familial colorectal cancer type X by Garre, P, Martín, L, Diaque, P, Tosar, A, Sanz, J, Díaz-Rubio, E, De la Hoya, M, Caldés, T

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Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset by Billingsley, Kimberley J., Barbosa, Ines A., Bandrés-Ciga, Sara, Quinn, John P., Bubb, Vivien J., Deshpande, Charu, Botia, Juan A., Reynolds, Regina H., Zhang, David, Simpson, Michael A., Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J. Raphael, Nalls, Mike A., Singleton, Andrew, Ryten, Mina, Koks, Sulev

“…Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most…”
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Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation by Gómez-Garre, P, Seijo, M, Gutiérrez-Delicado, E, Castro del Río, M, de la Torre, C, Gómez-Abad, C, Morales-Corraliza, J, Puig, M, Serratosa, J M

“…Background: The Ehlers-Danlos syndrome (EDS) comprises a group of hereditary connective tissue disorders. Periventricular nodular heterotopia (PNH) is a human…”
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A Novel Protein Tyrosine Phosphatase Gene Is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (EPM2) by Serratosa, José M., Gómez-Garre, Pilar, Gallardo, Ma Esther, Anta, Berta, de Bernabé, Daniel Beltrán-Valero, Lindhout, Dick, Augustijn, Paul B., Tassinari, Carlo A., Michelucci, Roberto, Malafosse, Alain, Topcu, Meral, Grid, Djamel, Dravet, Charlotte, Berkovic, Samuel F., de Córdoba, Santiago Rodríguez

“…Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy,…”
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P20-16 The Rodil Project: Understanding variability in the response to rTMS by Fernandez-del-Olmo, M, Cheeran, B, Gomez-Garre, P, Lago, A, Marquez, G, Koch, G, Teo, J.T.H, Rothwell, J.C, Mir, P

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Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia by Gomez-Garre, P, Serratosa, J M

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Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions by Gómez-Garre, P, Sanz, Y, Rodríguez De Córdoba, S R, Serratosa, J M

“…Progressive myoclonus epilepsy of the Lafora type (Lafora disease) is an autosomal recessive disease characterised by epilepsy, myoclonus, progressive…”
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APC Yin-Yang haplotype associated with colorectal cancer risk by GARRE, P, DE LA HOYA, M, INIESTA, P, ROMERA, A, LLOVET, P, GONZALEZ, S, PEREZ-SEGURA, P, CAPELLA, G, DIAZ-RUBIO, E, CALDES, T

“…The Yin-Yang haplotype is defined as two mismatched haplotypes (Yin and Yang) representing the majority of the existing haplotypes in a particular genomic…”
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A neural plate fate map at stage HH4 in the chick: methodology and preliminary data by Fernández-Garre, P, Rodrı́guez-Gallardo, L, Alvarez, I.Santiago, Puelles, Luis

“…This paper centers on the design of a perfected methodology for establishing a fate map of the chick neural plate at stages 3d/4, projected upon the closing…”
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Cardiac magnetic resonance to evaluate 3D ventricular substrate depth: Prognostic implications for VT ablation approach by Vazquez-Calvo, S, Eulogio-Valenzuela, F, Valerio Falzone, P, Garre, P, Guasch, E, Porta-Sanchez, A, Tolosana, J M, Borras, R, Arbelo, E, Ortiz Perez, J T, Prats, S, Perea, R J, Brugada, J, Mont, L, Roca Luque, I

“…Abstract Background The decision to perform a high-risk endo-epicardial approach for VT ablation is controversial and mostly based on previous endocardial…”
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Head-to-head comparison of pulsed field ablation, very high power-short duration, cryoballoon and conventional radiofrequency ablation by LGE-MRI-based ablation lesion assessment by Regany-Closa, M, Pomes, J, Invers-Rubio, E, Prat, S, Garre, P, Guichard, J B, Guasch, E, Tolosana, J M, Porta-Sanchez, A, Arbelo, E, Brugada, J, Roca-Luque, I, Mont, L, Althoff, T F

“…Abstract Background Novel concepts for pulmonary vein isolation (PVI) like pulsed field ablation (PFA) or high power-short duration ablation (HPSD) promise…”
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Non-endocardial radiofrequency ablation of premature ventricular complexes (NERA-PVC): safety, efficacy and outcome by Falzone, P V, Porta Sanchez, A, Vazquez Calvo, S, Garre, P, Althoff, T, Guichard, J B, Borras, R, Tolosana, J M, Guasch, E, Mont Girbau, L, Roca Luque, I

“…Abstract Funding Acknowledgements Type of funding sources: None. Background Radiofrequency ablation (RF) is a well-established treatment for of premature…”
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Impact of cardiac magnetic resonance channels to localize deceleration zones during VT ablation by Vazquez-Calvo, S, Garre, P, Ferro, E, Guichard, J B, Falzone, P, Arbelo, E, Tolosana, J M, Guasch, E, Mont, L, Porta-Sanchez, A, Brugada, J, Ortiz-Perez, J T, Roca-Luque, I

“…Abstract Funding Acknowledgements Type of funding sources: None. Background Cardiac magnetic resonance has demonstrated to accurately identify voltage…”
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