Search Results - "SARKOZY, A."

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy by HICKS, Debbie, SARKOZY, Anna, BAILEY, Geraldine, MILLER, James, RADUNOVIC, Aleksander, HUGHES, Paul J, ROBERT, Richard, KRAUSE, Sabine, WALTER, Maggie C, LAVAL, Steven H, STRAUB, Volker, LOCHMÜLLER, Hanns, MUELAS, Nuria, BUSHBY, Kate, KÖEHLER, Katrin, HUEBNER, Angela, HUDSON, Gavin, CHINNERY, Patrick F, BARRESI, Rita, EAGLE, Michelle, POLVIKOSKI, Tuomo

“…The limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. Recently, mutations in the ANO5 gene, which encodes…”
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Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy by Ricotti, Valeria, Ridout, Deborah A, Scott, Elaine, Quinlivan, Ros, Robb, Stephanie A, Manzur, Adnan Y, Muntoni, Francesco

“…Objective To assess the current use of glucocorticoids (GCs) in Duchenne muscular dystrophy in the UK, and compare the benefits and the adverse events of daily…”
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Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy by Hicks, Debbie, Farsani, Golara Torabi, Laval, Steven, Collins, James, Sarkozy, Anna, Martoni, Elena, Shah, Ashoke, Zou, Yaqun, Koch, Manuel, Bönnemann, Carsten G, Roberts, Mark, Lochmüller, Hanns, Bushby, Kate, Straub, Volker

“…Bethlem myopathy (BM) [MIM 158810] is a slowly progressive muscle disease characterized by contractures and proximal weakness, which can be caused by mutations…”
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Muscle MRI can be normal in children with RYR1 and COL6 gene-related myopathies by Sa, M., Sarkozy, A., Manzur, A., Muntoni, F.

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VT Recurrence After Ablation: Incomplete Ablation or Disease Progression? A Multicentric European Study by BERTE, B., SACHER, F., VENLET, J., ANDREU, D., MAHIDA, S., ALDHOON, B., DE POTTER, T., SARKOZY, A., TAVERNIER, R., ANDRONACHE, M., DENEKE, T., KAUTZNER, J., BERRUEZO, A., COCHET, H., ZEPPENFELD, K., JAÏS, PIERRE

“…NICM VT Ablation Aim To determine whether ventricular tachycardia (VT) recurrences in arrhythmogenic RV cardiomyopathy (ARVC) and nonischemic cardiomyopathy…”
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Long-term follow-up of primary prophylactic implantable cardioverter-defibrillator therapy in Brugada syndrome by Sarkozy, Andrea, Boussy, Tim, Kourgiannides, Georgios, Chierchia, Gian-Battista, Richter, Sergio, De Potter, Tom, Geelen, Peter, Wellens, Francis, Dingena Spreeuwenberg, Marieke, Brugada, Pedro

“…Aims To analyse the follow-up data of implantable cardioverter-defibrillator (ICD) therapy in Brugada syndrome (BS). Methods and results We conducted a…”
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New aspects on patients affected by dysferlin deficient muscular dystrophy by Klinge, Lars, Aboumousa, Ahmed, Eagle, Michelle, Hudson, Judith, Sarkozy, Anna, Vita, Gianluca, Charlton, Richard, Roberts, Mark, Straub, Volker, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate

“…Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients…”
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Familial transposition of the great arteries caused by multiple mutations in laterality genes by De Luca, Alessandro, Sarkozy, Anna, Consoli, Federica, Ferese, Rosangela, Guida, Valentina, Dentici, Maria Lisa, Mingarelli, Rita, Bellacchio, Emanuele, Tuo, Giulia, Limongelli, Giuseppe, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno

“…The pathogenesis of transposition of the great arteries (TGA) is still largely unknown. In general, TGA is not associated with the more common genetic…”
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Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes by Sarkozy, A, Conti, E, Seripa, D, Digilio, M C, Grifone, N, Tandoi, C, Fazio, V M, Di Ciommo, V, Marino, B, Pizzuti, A, Dallapiccola, B

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New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle by De Luca, A, Sarkozy, A, Ferese, R, Consoli, F, Lepri, F, Dentici, ML, Vergara, P, De Zorzi, A, Versacci, P, Digilio, MC, Marino, B, Dallapiccola, B

“…De Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, Vergara P, De Zorzi A, Versacci P, Digilio MC, Marino B, Dallapiccola B. New mutations in…”
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Long-term effect of atrial fibrillation on the evolution of mitral and tricuspid valve regurgitation by Pype, L., Embrechts, L., Cornez, B., Van Paesschen, C., Sarkozy, A., Miljoen, H., Heuten, H., Saenen, J., Van Herck, P., de Heyning, C. M. Van, Heidbuchel, H., Claeys, M. J.

“…Objective: The present study aims to identify the long-term effects of atrial fibrillation (AF) on atrial remodelling and on the progression of…”
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Diagnostic value of muscle MRI in rare congenital myopathies and collagen related muscular dystrophies by McCrea, N, Sarkozy, A, Robb, S, Mein, R, Munot, P, Manzur, A, Muntoni, F

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Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors by Sarkozy, A, Conti, E, Neri, C, D’Agostino, R, Digilio, M C, Esposito, G, Toscano, A, Marino, B, Pizzuti, A, Dallapiccola, B

“…[...]conduction defects, although not detected in infancy, can manifest with increasing age, while spontaneous healing of small VSDs results in an intact…”
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Verification of pulmonary vein isolation during single transseptal cryoballoon ablation: a comparison between the classical circular mapping catheter and the inner lumen mapping catheter by Chierchia, Gian-Battista, Namdar, Mehdi, Sarkozy, Andrea, Sorgente, Antonio, de Asmundis, Carlo, Casado-Arroyo, Rubén, Capulzini, Lucio, Bayrak, Fatih, Rodriguez-Mañero, Moisés, Ricciardi, Danilo, Rao, Jayakeerthi Y, Overeinder, Ingrid, Paparella, Gaetano, Brugada, Pedro

“…Cryoballoon ablation has proven very effective in achieving pulmonary vein isolation (PVI). The novel Achieve inner lumen mapping catheter designed to be used…”
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Vitamin D in corticosteroid treated Duchenne muscular dystrophy: What dose achieves serum 25OH vitamin D sufficiency? by Alshaikh, N, Brunklaus, A, Davis, T, Robb, S, Quinlivan, R, Munot, P, Sarkozy, A, Muntoni, F, Manzur, A

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Clinical outcomes in a large cohort of boys and adolescents with Duchenne muscular dystrophy by Alshaikh, N, Brunklaus, A, Robb, S, Quinlivan, R, Munot, P, Sarkozy, A, Muntoni, F, Manzur, A

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A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism by Bertoli, M, Topf, A, Harris, E, Laval, S, Sarkozy, A, Lochmüller, H, Lynch, S, Straub, V

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Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene by Torelli, S, Sarkozy, A, Mein, R, Yau, M, Hammans, S, Radunovic, A, Henderson, M, Walker, M, Marino, S, Winder, S, Feng, L, Phadke, R, Sewry, C, Bushby, K, Muntoni, F, Barresi, R

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Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome by Sarkozy, A, Conti, E, Digilio, M Cristina, Marino, B, Morini, E, Pacileo, G, Wilson, M, Calabrò, R, Pizzuti, A, Dallapiccola, B

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A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13 by Brancati, F, Valente, E M, Sarkozy, A, Fehèr, J, Castori, M, Del Duca, P, Mingarelli, R, Pizzuti, A, Dallapiccola, B

“…[...]although a number of putative keratoconus loci have been identified so far, 1, 4- 6 this is the first locus mapped by a genomewide search in a single…”
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