Pascale Guicheney
1989–2022 年に発表
- 87
- 論文数
- 18,851
- 被引用数
- 78
- h 指数
- 87
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Medicine51.6%
- Biochemistry, Genetics and Molecular Biology36.9%
- Nursing5.1%
- Neuroscience4.8%
- Pharmacology, Toxicology and Pharmaceutics0.3%
- Agricultural and Biological Sciences0.2%
- その他1.1%
トピック
- Cardiac electrophysiology and arrhythmias12.9%
- Ion channel regulation and function9.6%
- Muscle Physiology and Disorders5.8%
- Cardiomyopathy and Myosin Studies5.2%
- Cardiac Arrhythmias and Treatments2.8%
- Cardiovascular Effects of Exercise2.8%
- その他60.9%
共著者
- Isabelle Denjoy24
- Norma B. Romero18
- Michel Fardeau16
- Ana Ferreiro13
- Marc Bitoun13
- Francesco Muntoni12
- Myriam Berthet11
- Pascale Richard11
- Antoine Leenhardt10
- B. Estournet10
- Haluk Topaloğlu9
- Nathalie Neyroud9
- Susana Quijano‐Roy9
- Bernard Hainque8
- Ketty Schwartz8
- Luciano Merlini8
- Véronique Fressart8
- Arthur A.M. Wilde7
- Eric Schulze‐Bahr7
- Jean‐Marc Lupoglazoff7
- Svetlana Maugenre7
- B. Eymard6
- Caroline A. Sewry6
- P Coumel6
全論文
- Genotype-Phenotype Correlation in the Long-QT Syndrome
著者: Peter J. Schwartz, Silvia G. Priori, Carla Spazzolini, Arthur J. Moss, G. Michael Vincent, Carlo Napolitano, Isabelle Denjoy, Pascale Guicheney, Günter Breithardt, Mark T. Keating, Jeffrey A. Towbin, Alan H. Beggs, Paul A. Brink, Arthur A.M. Wilde, Lauri Toivonen, Wojciech Zaręba, Jennifer L. Robinson, Katherine W. Timothy, Valerie A. Corfield, Duangrurdee Wattanasirichaigoon, Clive Corbett, Wilhelm Haverkamp, Eric Schulze‐Bahr, Michael H. Lehmann, Ketty Schwartz, P Coumel, Raffaella Bloise - Circulation 2001 被引用: 1,755
- Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
著者: Najim Lahrouchi, Rafik Tadros, Lia Crotti, Yuka Mizusawa, Pieter G. Postema, Leander Beekman, Roddy Walsh, Kanae Hasegawa, Julien Barc, Marko Ernsting, Kari L. Turkowski, Andrea Mazzanti, Britt M. Beckmann, Keiko Shimamoto, Ulla‐Britt Diamant, Yanushi D. Wijeyeratne, Yu Kucho, Tomas Robyns, Taisuke Ishikawa, Elena Arbelo, Michael Christiansen, Annika Winbo, Reza Jabbari, Steven A. Lubitz, Johannes Steinfurt, Boris Rudic, Bart Loeys, Moore B. Shoemaker, Peter Weeke, Ryan Pfeiffer, Brianna Davies, Antoine Andorin, Nynke Hofman, Federica Dagradi, Matteo Pedrazzini, David J. Tester, J. Martijn Bos, Georgia Sarquella‐Brugada, Óscar Campuzano, Pyotr G. Platonov, Birgit Stallmeyer, Sven Zumhagen, Eline A. Nannenberg, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Christopher E. Shaw, Pamela J. Shaw, Karen Morrison, Peter M. Andersen, Martina Müller‐Nurasyid, Daniele Cusi, Cristina Barlassina, Pilar Galán, Mark Lathrop, Markus Munter, Thomas Werge, Marta Ribasés, Tin Aung, Chiea Chuen Khor, Mineo Ozaki, Peter Lichtner, Thomas Meitinger, J. Peter van Tintelen, Yvonne M. Hoedemaekers, Isabelle Denjoy, Antoine Leenhardt, Carlo Napolitano, Wataru Shimizu, Jean‐Jacques Schott, Jean‐Baptiste Gourraud, Takeru Makiyama, Seiko Ohno, Hideki Itoh, Andrew D. Krahn, Charles Antzelevitch, Dan M. Roden, Johan Saenen, Martin Borggrefe, Katja E. Odening, Patrick T. Ellinor, Jacob Tfelt‐Hansen, Jonathan R. Skinner, Maarten P. van den Berg, Morten S. Olesen, Josép Brugada, Ramón Brugada, Naomasa Makita, Jeroen Breckpot, Masao Yoshinaga, Elijah R. Behr, Annika Rydberg, Takeshi Aiba, Stefan Kääb, Silvia G. Priori, Pascale Guicheney, Hanno L. Tan, Christopher Newton‐Cheh, Michael Ackerman, Peter J. Schwartz ほか 6 名 - Circulation 2020 被引用: 141
- An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
著者: Jamie D. Kapplinger, David J. Tester, Mariëlle Alders, Begoña Benito, Myriam Berthet, Josép Brugada, Pedro Brugada, Véronique Fressart, Alejandra Guerchicoff, Carole Harris‐Kerr, Shiro Kamakura, Florence Kyndt, Tamara T. Koopmann, Yoshihiro Miyamoto, Ryan Pfeiffer, Guido D. Pollevick, Vincent Probst, Sven Zumhagen, Matteo Vatta, Jeffrey A. Towbin, Wataru Shimizu, Eric Schulze‐Bahr, Charles Antzelevitch, Benjamin A. Salisbury, Pascale Guicheney, Arthur A.M. Wilde, Ramón Brugada, Jean‐Jacques Schott, Michael J. Ackerman - Heart Rhythm 2009 被引用: 764
- The genetics underlying acquired long QT syndrome: impact for genetic screening
著者: Hideki Itoh, Lia Crotti, Takeshi Aiba, Carla Spazzolini, Isabelle Denjoy, Véronique Fressart, Kenshi Hayashi, Tadashi Nakajima, Seiko Ohno, Takeru Makiyama, Jie Wu, Kanae Hasegawa, Elisa Mastantuono, Federica Dagradi, Matteo Pedrazzini, Masakazu Yamagishi, Myriam Berthet, Yoshitaka Murakami, Wataru Shimizu, Pascale Guicheney, Peter J. Schwartz, Minoru Horie - European Heart Journal 2015 被引用: 211
- Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
著者: Connie R. Bezzina, Julien Barc, Yuka Mizusawa, Carol Ann Remme, Jean‐Baptiste Gourraud, Floriane Simonet, Arie O. Verkerk, Peter J. Schwartz, Lia Crotti, Federica Dagradi, Pascale Guicheney, Véronique Fressart, Antoine Leenhardt, Charles Antzelevitch, S. Bartkowiak, Martin Borggrefe, Rainer Schimpf, Eric Schulze‐Bahr, Sven Zumhagen, Elijah R. Behr, Rachel Bastiaenen, Jacob Tfelt‐Hansen, Morten S. Olesen, Stefan Kääb, Britt Maria Beckmann, Peter Weeke, Hiroshi Watanabe, Naoto Endo, Tohru Minamino, Minoru Horie, Seiko Ohno, Kanae Hasegawa, Naomasa Makita, Akihiko Nogami, Wataru Shimizu, Takeshi Aiba, Philippe Froguel, Beverley Balkau, Olivier Lantieri, Margherita Torchio, Cornelia Wiese, David Weber, Rianne Wolswinkel, Ruben Coronel, Bastiaan J. Boukens, Stéphane Bezieau, Éric Charpentier, Stéphanie Chatel, Aurore Després, F Gros, Florence Kyndt, Simon Lecointe, Pierre Lindenbaum, Vincent Portero, Jade Violleau, Manfred Gessler, Hanno L. Tan, Dan M. Roden, Vincent M. Christoffels, Hervé Le Marec, Arthur A.M. Wilde, Vincent Probst, Jean‐Jacques Schott, Christian Dina, Richard Redon - Nature Genetics 2013 被引用: 546
- Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia
著者: Meiso Hayashi, Isabelle Denjoy, Fabrice Extramiana, Alice Maltret, Nathalie Roux Buisson, Jean‐Marc Lupoglazoff, Didier Klug, Miyuki Hayashi, Seiji Takatsuki, E Villain, J Kamblock, A. Messali, Pascale Guicheney, Joël Lunardi, Antoine Leenhardt - Circulation 2009 被引用: 558
- Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
著者: Erik Schoenmakers, Maura Agostini, Catherine Mitchell, Nadia Schoenmakers, Laura V. Papp, Odelia Rajanayagam, Raja Padidela, Lourdes Ceron‐Gutierrez, Rainer Döffinger, Claudia Prevosto, Jian’an Luan, Sergio Montaño, Jun Lu, Mireille Castanet, Nick Clemons, Matthijs Groeneveld, Perrine Castets, Mahsa Karbaschi, Sri W. Aitken, Adrian Dixon, Jane Williams, Irene Campi, Margaret Blount, Hannah Burton, Francesco Muntoni, Dominic G. O’Donovan, Andrew Dean, A Jane Warren, Charlotte Brierley, David Baguley, Pascale Guicheney, Rebecca C. Fitzgerald, Alasdair Coles, Hill Gaston, Pamela Todd, Arne Holmgren, Kum Kum Khanna, Marcus S. Cooke, Robert K. Semple, David Halsall, Nicholas J. Wareham, John W. R. Schwabe, L. Grasso, Paolo Beck‐Peccoz, Arthur Ogunko, Mehul Dattani, Mark Gurnell, Krishna Chatterjee - Journal of Clinical Investigation 2010 被引用: 310
- A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy
著者: Patrick Vicart, Anne Caron, Pascale Guicheney, Zhenlin Li, Marie-Christine Prévost, Armelle Faure, Danielle Château, Françoise Chapon, Fernando Tomé, Jean-Marie Dupret, Denise Paulin, Michel Fardeau - Nature Genetics 1998 被引用: 1,080
- Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
著者: Behzad Moghadaszadeh, Nathalie Petit, Céline Jaillard, Martin Brockington, Susana Quijano Roy, Luciano Merlini, Norma B. Romero, B. Estournet, Isabelle Desguerre, Denys Chaigne, Francesco Muntoni, Haluk Topaloğlu, Pascale Guicheney - Nature Genetics 2001 被引用: 365
- Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis
著者: Erik Schoenmakers, Bradley A. Carlson, Maura Agostini, Carla Moran, Odelia Rajanayagam, Elena G. Bochukova, Ryuta Tobe, Rachel A. Peat, Evelien Gevers, Francesco Muntoni, Pascale Guicheney, Nadia Schoenmakers, I. Sadaf Farooqi, Greta Lyons, Dolph L. Hatfield, Krishna Chatterjee - Journal of Clinical Investigation 2016 被引用: 95
- A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
著者: Nathalie Neyroud, Frédérique Tesson, Isabelle Denjoy, Michel Leibovici, Claire Donger, Jacques Barhanin, Sabine Fauré, Françoise Gary, P Coumel, Christine Petit, Ketty Schwartz, Pascale Guicheney - Nature Genetics 1997 被引用: 883
- Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
著者: Eugenio Mercuri, Beril Talim, Behzad Moghadaszadeh, Nathalie Petit, Martin Brockington, Serena J. Counsell, Pascale Guicheney, Francesco Muntoni, Luciano Merlini - Neuromuscular Disorders 2002 被引用: 215
- Catecholaminergic Polymorphic Ventricular Tachycardia
著者: Antoine Leenhardt, Isabelle Denjoy, Pascale Guicheney - Circulation Arrhythmia and Electrophysiology 2012 被引用: 169
- Selenoprotein function and muscle disease
著者: Alain Lescure, Mathieu Rederstorff, Alain Krol, Pascale Guicheney, Valérie Allamand - Biochimica et Biophysica Acta (BBA) - General Subjects 2009 被引用: 123
- SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome
著者: Vincent Probst, Arthur A.M. Wilde, Julien Barc, Frédéric Sacher, Dominique Babuty, Philippe Mabo, Jacques Mansourati, Solena Le Scouarnec, Florence Kyndt, Cédric Le Caignec, Pascale Guicheney, Laëtitia Gouas, Juliette Albuisson, Paola G. Meregalli, Hervé Le Marec, Hanno L. Tan, Jean‐Jacques Schott - Circulation Cardiovascular Genetics 2009 被引用: 319
- Mutational spectrum in the Ca2+-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances
著者: Birgit Stallmeyer, Sven Zumhagen, Isabelle Denjoy, Guillaume Duthoit, Jean‐Louis Hébert, Xavier Ferrer, Svetlana Maugenre, Wilhelm Schmitz, Uwe Kirchhefer, Ellen Schulze-Bahr, Pascale Guicheney, Eric Schulze‐Bahr - Human Mutation 2011 被引用: 167
- Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle
著者: Agathe Franck, Jeanne Lainé, Gilles Moulay, Eline Lemerle, Michaël Trichet, Christel Gentil, Sofia Benkhelifa‐Ziyyat, Emmanuelle Lacène, Mai Thao Bui, Guy Brochier, Pascale Guicheney, Norma B. Romero, Marc Bitoun, Stéphane Vassilopoulos - Molecular Biology of the Cell 2019 被引用: 52
- Mutations in dynamin 2 cause dominant centronuclear myopathy
著者: Marc Bitoun, Svetlana Maugenre, Pierre‐Yves Jeannet, Emmanuelle Lacène, Xavier Ferrer, Pascal Laforêt, Jean‐Jacques Martin, Jocelyn Laporte, Hanns Lochmüller, Alan H. Beggs, Michel Fardeau, B. Eymard, Norma B. Romero, Pascale Guicheney - Nature Genetics 2005 被引用: 461
- Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies
著者: Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten G. Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean‐Paul Leroy, Norma B. Romero, Jean‐Jacques Martin, Francesco Muntoni, Thomas Voit, B. Estournet, Pascale Richard, Michel Fardeau, Pascale Guicheney - The American Journal of Human Genetics 2002 被引用: 363
- De novo LMNA mutations cause a new form of congenital muscular dystrophy
著者: Susana Quijano‐Roy, Blaise Mbieleu, Carsten G. Bönnemann, Pierre‐Yves Jeannet, J. Colomer, Nigel F. Clarke, Jean‐Marie Cuisset, H. Roper, Linda De Meırleır, Adele D’Amico, Rabah Ben Yaou, A. Nascimento, A Barois, L. Demay, Enrico Bertini, Ana Ferreiro, Caroline A. Sewry, Norma B. Romero, Monique M. Ryan, Francesco Muntoni, Pascale Guicheney, Pascale Richard, Gisèle Bonne, B. Estournet - Annals of Neurology 2008 被引用: 282
- C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy
著者: Virginie Carmignac, Mustafa A. Salih, Susana Quijano‐Roy, Sylvie Marchand, Molham M. Al Rayess, Maowia M. Mukhtar, Jon Andoni Urtizberea, Siegfried Labeit, Pascale Guicheney, France Leturcq, Mathias Gautel, Michel Fardeau, Kevin P. Campbell, Isabelle Richard, B. Estournet, Ana Ferreiro - Annals of Neurology 2007 被引用: 250
- Brugada syndrome and fever: Genetic and molecular characterization of patients carrying mutations
著者: Dagmar I. Keller, Jean‐Sébastien Rougier, Jan Kučera, N. Benammar, Véronique Fressart, Pascale Guicheney, A Mádle, Menachem Fromer, Jürg Schläpfer, Hugues Abriel - Cardiovascular Research 2005 被引用: 195
- A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes
著者: Stefan Kääb, Dana C. Crawford, Moritz F. Sinner, Elijah R. Behr, Prince J. Kannankeril, Arthur A.M. Wilde, Connie R. Bezzina, Eric Schulze‐Bahr, Pascale Guicheney, Nanette H. Bishopric, Robert J. Myerburg, Jean‐Jacques Schott, Arne Pfeufer, Britt Maria Beckmann, Eimo Martens, Taifang Zhang, Birgit Stallmeyer, Sven Zumhagen, Isabelle Denjoy, Abdennasser Bardai, Isabelle C. Van Gelder, Yalda Jamshidi, Chrysoula Dalageorgou, Vanessa Marshall, Steve Jeffery, Saad Shakir, A. John Camm, Gerhard Steinbeck, Siegfried Perz, Peter Lichtner, Thomas Meitinger, Annette Peters, H-Erich Wichmann, Christiana D. Ingram, Yuki Bradford, Shannon Carter, Kris Norris, Marylyn D. Ritchie, Alfred L. George, Dan M. Roden - Circulation Cardiovascular Genetics 2011 被引用: 166
- Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia
著者: Alex V. Postma, Isabelle Denjoy, Theo M. Hoorntje, Jean‐Marc Lupoglazoff, Antoine Da Costa, Pascale Sébillon, Marcel M. A. M. Mannens, Arthur A.M. Wilde, Pascale Guicheney - Circulation Research 2002 被引用: 400
