Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Philippe Petiot"'
Autor:
Jeanne Thirouin, Philippe Petiot, Jean‐Christophe Antoine, Nathalie André‐Obadia, Philippe Convers, Antoine Gavoille, Françoise Bouhour, Sylvain Rheims, Jean‐Philippe Camdessanché
Publikováno v:
MusclenerveREFERENCES. 66(3)
Recent guidelines define chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and possible CIDP. The aims of our study were to evaluate the value of diagnostic tests to support the diagnosis of CIDP in patients with possible CIDP and to i
Autor:
M Skorupinska, Guilhem Solé, Philippe Latour, Mary M. Reilly, Andrea Cortese, Tanya Stojkovic, Sachit Shah, Ki Wha Chung, Raul Juntas-Morales, Jana Vandrovcova, Byung-Ok Choi, Menelaos Pipis, Roy Poh, James M. Polke, Philippe Petiot, Matilde Laura, Alexander M. Rossor, Yves Fromes, Julian Blake, Arnaud Jacquier
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal of Neurology, Neurosurgery and Psychiatry, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, jnnp-2021-327186. ⟨10.1136/jnnp-2021-327186⟩
ObjectiveNeurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC).MethodsIn this large observational study, we pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d319da7afd60ea990d61bdd8ccdc0dee
https://hal.sorbonne-universite.fr/hal-03353031/file/jnnp-2021-327186.full.pdf
https://hal.sorbonne-universite.fr/hal-03353031/file/jnnp-2021-327186.full.pdf
Autor:
Menelaos, Pipis, Andrea, Cortese, James M, Polke, Roy, Poh, Jana, Vandrovcova, Matilde, Laura, Mariola, Skorupinska, Arnaud, Jacquier, Raul, Juntas-Morales, Philippe, Latour, Philippe, Petiot, Guilhem, Sole, Yves, Fromes, Sachit, Shah, Julian, Blake, Byung-Ok, Choi, Ki Wha, Chung, Tanya, Stojkovic, Alexander M, Rossor, Mary M, Reilly
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 93(1)
Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants inIn this large observational study, we present phenotype-genotype correlations on 30 affected and 3 asymptomatic mutation carriers from eight families.The
Autor:
S. Jeannin-Mayer, Antoine Pegat, Philippe Petiot, Emmanuel Jouanneau, François Ducray, S. Pinson
Publikováno v:
Revue Neurologique. 175:486-489
Autor:
Mélanie Fradin, Nicolas Sadoul, Xavier Waintraub, Didier Klug, Albert Hagège, Pascal Sabouraud, Arnaud Isapof, Julien Durigneux, Olivier Lascols, Pascal Laforêt, Armelle Magot, Ivana Dabaj, Eloi Marijon, Camille Vatier, Pascal Cintas, Emmanuelle Salort, Bénédicte Gaborit, Antoine Muchir, Xavier Ferrer, Pascale Richard, Corinne Metay, Stéphane Boulé, Sarah Leonard-Louis, Philippe Mabo, V. Tiffreau, Caroline Stalens, Jitendra K. Vohra, Stéphane Schaeffer, Khadija Chikhaoui, Eric Bieth, Sandra Mercier, Pierre Ambrosi, Aleksandra Nadaj-Pakleza, Michèle Mayer, Katja Zeppenfeld, Gisèle Bonne, Véronique Manel, Jean-Marc Davy, Guilhem Sole, Ghassan Moubarak, Nicolas Lamblin, Klaus Dieterich, Christophe Meune, Abdallah Fayssoil, Arnaud Lazarus, Philippe Maury, Karim Wahbi, Philippe Petiot, Isabelle Jéru, Annick Toutain, Corinne Vigouroux, Ana Ferreiro, Maud Michaud, H.M. Bécane, Bruno Eymard, Thomas D. Gossios, Marie-Christine Vantyghem, Saurabh Kumar, Estelle Gandjbakhch, Yann Péréon, T. Thompson, Marie-Christine Minot-Myhié, Anthony Behin, Frédéric Sacher, Philippe Charron, Nicolas Combes, Julien Praline, Dominique Babuty, Emmanuelle Lagrue, Usha B. Tedrow, Jean-Marc Sellal, Florence Petit, Perry M. Elliott, Frédéric Anselme, Philippe Chevalier, Frederic Taithe, Christine Barnerias, Vincent Laugel, Andoni Echaniz-Laguna, Raphaël P. Martins, Alexander F.A. Androulakis, Rabah Ben Yaou, Franck Boccara, Ulrike Walther-Louvier, Tanya Stojkovic, Françoise Bouhour, Annachiara De Sandre-Giovannoli, Susana Quijano-Roy, Françoise Chapon, Jean-Noël Trochu, Céline Tard, Anne Rollin, Jean-Marie Cuisset, Denis Duboc, Raphaël Porcher, Catherine Sarret, Jonathan M. Kalman, Florence Demurger, Damien Bonnet, Christine Francannet, Neal K. Lakdawala, Romain Eschalier, Fabien Labombarda, Kostantinos Savvatis, Raul Juntas Morales, Isabelle Desguerre, Nicolas Lévy, Anne-Claire Brehin
Publikováno v:
Circulation
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, American Heart Association, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, 140(4), 293-302. LIPPINCOTT WILLIAMS & WILKINS
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, American Heart Association, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Circulation, 140(4), 293-302. LIPPINCOTT WILLIAMS & WILKINS
Background: An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Methods: We included 83
Publikováno v:
La Revue de Médecine Interne. 42:A263-A264
Introduction Les myosites focales (MF) sont des maladies musculaires inflammatoires rares d’etiologie indeterminee, parfois associees a une radiculopathie ou a une maladie auto-immune (MAI). La presentation est celle d’une masse musculaire isolee
Autor:
Marco Savarese, Olivera Casar-Borota, Nuria Muelas, Claudio Bruno, Anna Sarkozy, Guja Astrea, Christoffer Ehrstedt, Marika Pane, Ricardo Rojas-García, Rita Barresi, Thierry Kuntzer, Jordi Díaz-Manera, Fortunato Lonardo, Bjarne Udd, Mridul Johari, Alessandro Malandrini, Juan J. Vílchez, Eugenio Mercuri, Francesco Muntoni, Sushan Luo, Giorgio Tasca, Ana Ferreiro, C. Julien, Mark M. Davis, Heidi Fodstad, Annalaura Torella, Salla Välipakka, Amets Sáenz, Vincenzo Nigro, Manu Jokela, Adolfo López de Munain, Emily C. Oates, Anna Vihola, Peter Hackman, Chiara Fiorillo, Isabel Illa, Filippo M. Santorelli, Talha Qureshi, H. Luque, Philippe Petiot, Chong Bo Zhao
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (12), pp.2029-2040. ⟨10.1038/s41436-020-0914-2⟩
Genetics in Medicine, 2020, 22 (12), pp.2029-2040. ⟨10.1038/s41436-020-0914-2⟩
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Genetics in Medicine, Nature Publishing Group, 2020, 22 (12), pp.2029-2040. ⟨10.1038/s41436-020-0914-2⟩
Genetics in Medicine, 2020, 22 (12), pp.2029-2040. ⟨10.1038/s41436-020-0914-2⟩
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
International audience; Purpose High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e1a2b017cf3abc13ad35ecc28d4c23
https://hal-cnrs.archives-ouvertes.fr/hal-03300419
https://hal-cnrs.archives-ouvertes.fr/hal-03300419
Autor:
Philippe Petiot, Françoise Thivolet-Bejui, Delphine Maucort-Boulch, Nathalie Streichenberger, Arnaud Hot, Laure Gallay
Publikováno v:
Neurology. 90:e1013-e1020
ObjectiveTo better define in a cohort study the clinical and pathologic features of focal myositis (FM).MethodsWith the use of the usual clinicopathologic definition, each confirmed case of FM in the Lyon University Hospital's myopathologic database
Autor:
Christiane Broussolle, Nicolas Girard, Yvan Jamilloux, Philippe Petiot, C. Bernard, H. Frih, Pascal Sève
Publikováno v:
La Revue de Médecine Interne. 39:17-26
The association between thymoma and autoimmunity is well known. Besides myasthenia gravis, which is found in 15 to 20% of patients with thymoma, other autoimmune diseases have been reported: erythroblastopenia, systemic lupus erythematosus, inflammat
Autor:
Nicole Fabien, Isabelle Durieu, L. Gallay, M. Robert, F. Coury, Philippe Petiot, Arnaud Hot, J. Svahn, T. Fenouil, N. Streichenberger, D. Maucort-Boulch, Françoise Bouhour
Publikováno v:
La Revue de Médecine Interne. 42:A93
Introduction Les myopathies idiopathiques inflammatoires (MIIs) sont un groupe heterogene de pathologies caracterise par une atteinte musculaire inflammatoire et des atteintes extra-musculaires variables. Plusieurs sous-groupes de MIIs sont definis a