A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy
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
Published in Brain (London, England : 1878) (01.01.2011)
Published in Brain (London, England : 1878) (01.01.2011)
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Journal Article
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
Ricotti, Valeria, Ridout, Deborah A, Scott, Elaine, Quinlivan, Ros, Robb, Stephanie A, Manzur, Adnan Y, Muntoni, Francesco
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2013)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2013)
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Journal Article
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy
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
Published in Human molecular genetics (01.05.2014)
Published in Human molecular genetics (01.05.2014)
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Journal Article
Muscle MRI can be normal in children with RYR1 and COL6 gene-related myopathies
Sa, M., Sarkozy, A., Manzur, A., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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Journal Article
VT Recurrence After Ablation: Incomplete Ablation or Disease Progression? A Multicentric European Study
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
Published in Journal of cardiovascular electrophysiology (01.01.2016)
Published in Journal of cardiovascular electrophysiology (01.01.2016)
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Journal Article
Long-term follow-up of primary prophylactic implantable cardioverter-defibrillator therapy in Brugada syndrome
Sarkozy, Andrea, Boussy, Tim, Kourgiannides, Georgios, Chierchia, Gian-Battista, Richter, Sergio, De Potter, Tom, Geelen, Peter, Wellens, Francis, Dingena Spreeuwenberg, Marieke, Brugada, Pedro
Published in European heart journal (01.02.2007)
Published in European heart journal (01.02.2007)
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Journal Article
New aspects on patients affected by dysferlin deficient muscular dystrophy
Klinge, Lars, Aboumousa, Ahmed, Eagle, Michelle, Hudson, Judith, Sarkozy, Anna, Vita, Gianluca, Charlton, Richard, Roberts, Mark, Straub, Volker, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2010)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2010)
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Journal Article
Familial transposition of the great arteries caused by multiple mutations in laterality genes
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
Published in Heart (British Cardiac Society) (01.05.2010)
Published in Heart (British Cardiac Society) (01.05.2010)
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Journal Article
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
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
Published in Journal of medical genetics (01.09.2003)
Published in Journal of medical genetics (01.09.2003)
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Journal Article
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle
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
Published in Clinical genetics (01.08.2011)
Published in Clinical genetics (01.08.2011)
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Journal Article
Long-term effect of atrial fibrillation on the evolution of mitral and tricuspid valve regurgitation
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
Published in Acta cardiologica (14.10.2020)
Published in Acta cardiologica (14.10.2020)
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Journal Article
Diagnostic value of muscle MRI in rare congenital myopathies and collagen related muscular dystrophies
McCrea, N, Sarkozy, A, Robb, S, Mein, R, Munot, P, Manzur, A, Muntoni, F
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Journal Article
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
Sarkozy, A, Conti, E, Neri, C, D’Agostino, R, Digilio, M C, Esposito, G, Toscano, A, Marino, B, Pizzuti, A, Dallapiccola, B
Published in Journal of medical genetics (01.02.2005)
Published in Journal of medical genetics (01.02.2005)
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Journal Article
Verification of pulmonary vein isolation during single transseptal cryoballoon ablation: a comparison between the classical circular mapping catheter and the inner lumen mapping catheter
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
Published in Europace (London, England) (01.12.2012)
Published in Europace (London, England) (01.12.2012)
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Journal Article
Vitamin D in corticosteroid treated Duchenne muscular dystrophy: What dose achieves serum 25OH vitamin D sufficiency?
Alshaikh, N, Brunklaus, A, Davis, T, Robb, S, Quinlivan, R, Munot, P, Sarkozy, A, Muntoni, F, Manzur, A
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism
Bertoli, M, Topf, A, Harris, E, Laval, S, Sarkozy, A, Lochmüller, H, Lynch, S, Straub, V
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Clinical outcomes in a large cohort of boys and adolescents with Duchenne muscular dystrophy
Alshaikh, N, Brunklaus, A, Robb, S, Quinlivan, R, Munot, P, Sarkozy, A, Muntoni, F, Manzur, A
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene
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
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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