Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Karine N'Guyen"'
Autor:
Hélène Martel, Arnaud Rique, Chiara Piazzai, Julien Mancini, Robinson Gravier Dumonceau, Florent Arregle, Alexandra Dernys, Alienor Gardenat, Anne-Claire Casalta, Sébastien Renard, Sandrine Hubert, Karine N’Guyen, Gilbert Habib
Publikováno v:
Journal of the American Society of Echocardiography. 36:555-557
Autor:
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood
Korrektur zu 10.1038/s41436-020-0899-x
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb87ec820e417dedaa86c6a0e5a846aa
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85097942898
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85097942898
Autor:
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S. Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1851-1862. ⟨10.1038/s41436-020-0899-x⟩
Genetics in medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1851-1862. ⟨10.1038/s41436-020-0899-x⟩
Genetics in medicine
International audience; Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48).Methods: We analyzed a large ser
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c4642c4e5d177527da8016ea948e04
https://hal.umontpellier.fr/hal-03369330
https://hal.umontpellier.fr/hal-03369330
Autor:
Karine N’Guyen, Andreina Carbone, Chiara Piazzai, Pierre Ambrosi, Gilbert Habib, Noémie Resseguier, Anne-Claire Casalta, Hilla Gerard, Hélène Martel, Valeria Donghi, Franck Levy, Benjamin Essayagh, Nicolas Michel, Jean-François Avierinos, Sébastien Renard
Publikováno v:
Archives of cardiovascular diseases
Archives of cardiovascular diseases, Elsevier/French Society of Cardiology, 2020, ⟨10.1016/j.acvd.2020.06.004⟩
Archives of cardiovascular diseases, 2020, ⟨10.1016/j.acvd.2020.06.004⟩
Archives of cardiovascular diseases, Elsevier/French Society of Cardiology, 2020, ⟨10.1016/j.acvd.2020.06.004⟩
Archives of cardiovascular diseases, 2020, ⟨10.1016/j.acvd.2020.06.004⟩
Summary Background The incremental prognostic value of left atrial (LA) dysfunction, emerging in various clinical contexts, remains poorly explored in hypertrophic cardiomyopathy (HCM). Objective To assess LA strain correlation with outcome in HCM. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee10d4601787b4d2af3118fd7ada0031
https://hal.archives-ouvertes.fr/hal-03149984
https://hal.archives-ouvertes.fr/hal-03149984
Autor:
Claire, Lecocq, Perrine, Charles, Jean-Philippe, Azulay, Wassilios, Meissner, Myriam, Rai, Karine, N'Guyen, Yann, Péréon, Nelly, Fabre, Elsa, Robin, Sylvie, Courtois, Lucie, Guyant-Maréchal, Fabien, Zagnoli, Gabrielle, Rudolf, Mathilde, Renaud, Mathieu, Sévin-Allouet, Fabien, Lesne, Nick, Alaerts, Cyril, Goizet, Patrick, Calvas, Alexandre, Eusebio, Claire, Guissart, Pascal, Derkinderen, Francois, Tison, Alexis, Brice, Michel, Koenig, Massimo, Pandolfo, Christine, Tranchant, Alexandra, Dürr, Mathieu, Anheim
Publikováno v:
Movement Disorders
Movement Disorders, Wiley, 2016, 31 (1), pp.62-69. ⟨10.1002/mds.26382⟩
Movement Disorders, Wiley, 2016, 31 (1), pp.62-69. ⟨10.1002/mds.26382⟩
International audience; BACKGROUND:Friedreich's ataxia usually occurs before the age of 25. Rare variants have been described, such as late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia, occurring after 25 and 40 years, respective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5b6d0e579563dcf14bcb266edcaec745
https://hal.umontpellier.fr/hal-01887941
https://hal.umontpellier.fr/hal-01887941
Autor:
Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C. Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N’Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2014, 137 (Pt 12), pp.e314. ⟨10.1093/brain/awu300⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (Pt 12), pp.e314. ⟨10.1093/brain/awu300⟩
Brain-A Journal of Neurology, 2014, 137 (Pt 12), pp.e314. ⟨10.1093/brain/awu300⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (Pt 12), pp.e314. ⟨10.1093/brain/awu300⟩
Sir, A recent study by Bannwarth et al. (2014) in Brain identified a novel mutation (c.176C > T; p.Ser59Leu) in the CHCHD10 gene that segregates in a family presenting with ataxia, myopathy, hearing loss as well as motor neuron disease and frontotemp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfaf6b5a827fc29b81cacd17c1685370
https://hal.science/hal-01135688
https://hal.science/hal-01135688
Autor:
Ellis, Chan, Perrine, Charles, Pascale, Ribai, Cyril, Goizet, Cecilia, Marelli, Carlo-Maria, Vincitorio, Alice, Le Bayon, Lucie, Guyant-Maréchal, Nadia, Vandenberghe, Mathieu, Anheim, David, Devos, Leorah, Freeman, Isabelle, Le Ber, Karine, N'Guyen, Maya, Tchikviladzé, Pierre, Labauge, Didier, Hannequin, Alexis, Brice, Alexandra, Durr, Sophie Tezenas, du Montcel
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 26(3)
Responsive ataxia rating scales are essential for determining outcome measures in clinical trials.We evaluated the responsiveness over time of the composite cerebellar functional severity score, a quantitative score measuring cerebellar ataxia in 133