Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Eric Bieth"'
Autor:
Lisa Cole Burnett, Françoise Conte Auriol, Eric Bieth, Jean Pierre Salles, Juliette Salles, Maithé Tauber, Gwenaelle Diene, Catherine Molinas, Rudolph L. Leibel, Boris V. Skryabin, Isabelle Gennero, Timofey S. Rozhdestvensky, Sanaa Eddiry
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2021, 23 (9), pp.1664-1672. ⟨10.1038/s41436-021-01185-y⟩
Genetics in Medicine, 2021, 23 (9), pp.1664-1672. ⟨10.1038/s41436-021-01185-y⟩
International audience; Purpose: Prader-Willi syndrome (PWS) is a neurodevelopmental disorder with hypothalamic dysfunction due to deficiency of imprinted genes located on the 15q11-q13 chromosome. Among them, the SNORD116 gene appears critical for t
Autor:
Julie Perrier-Boeswillwald, Johann Böhm, Eric Bieth, Marie-Christine Minot-Myhie, Marie-Christine Nougues, Annabelle Chaussenot, Helen Mecili, François-Jérôme Authier, Maud Michaud, Sandra Mercier, Norma B. Romero, Claude Cances, Julien Fauré, Mégane Pizzimenti, Nicolas Dondaine, Valérie Biancalana, Sabrina Sacconi, Antoinette Gelot Bernabe, John Rendu, Alison Bouzenard, Armelle Magot, Bertrand Isidor, Yann Péréon, Mélanie Fradin, Emmanuelle Uro-Coste, Jocelyn Laporte, Pascale Marcorelles, Gilles Bretaudeau, Laurent Pasquier, Ana Ferreiro, Bruno Eymard
Publikováno v:
Acta Neuropathologica Communications
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-10 (2021)
Acta Neuropathologica Communications, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-10 (2021)
Acta Neuropathologica Communications, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩
The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction. Abnormal RyR1 activity compromises normal muscle functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a32a86e9d4074e9e2ebbc4865e219a
https://hal.archives-ouvertes.fr/hal-03613310/document
https://hal.archives-ouvertes.fr/hal-03613310/document
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
Autor:
Maryse Magen, Susana Quijano-Roy, Domitille Gras, Mathilde Nizon, Corinne Magdelaine, Catherine Vanhulle, Fabienne Giuliano, Eric Bieth, Véronique Manel, Damien Haye, Pascal Cintas, Florence Petit, Klaus Dieterich, Agnès Viguier, S. Peudenier, Valérie Lauwers-Cances, Mélanie Fradin, Claude Cances, Isabelle Desguerre, Arnaud Isapof, Michèle Mathieu-Dramard, Michaël Jokic
Publikováno v:
Neuromuscular Disorders. 29:114-126
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently
Autor:
Sylvain Vergnet, Jean Phillipe Azulay, Isabelle Meunier, Audrey Riquet, Olivier Patat, Anna Castrioto, Laurent Pasquier, Cyril Charlin, Lena Damaj, Cécile Acquaviva, Nicolas Lebouc, Bérénice Doray, Cecilia Marelli, Morgane Pointaux, Pierre Meyer, Perrine Charles, Danielle Cuntz-Shadfar, Caroline Tillikete, Frederic Villega, Cathy Lieutard-Haag, Michel Koenig, François Rivier, Idriss Bousquet, Ganaëlle Remerand, Ulrike Walther-Louvier, Clarisse Carra-Dalliere, Victoria Gonzales, Alexandre Eusebio, Brigitte Chabrol, Emilie Carme, Pierre Labauge, Adrian Degardin, Elise Brischoux-Boucher, Brice Laurens, Laurent Kremer, Giovanni Castelnovo, Mélanie Fradin, Mehdi Benkirane, Karine Nguyen, Jean-Marie Ravel, Vincent Laugel, Emilien Bernard, Claire Guissart, Cyril Goizet, Samira Sissaoui, Agathe Roubertie, Christine Francannet, Sylvie Odent, Yosra Halleb, Xavier Ayrignac, Shahram Attarian, Fabienne Ory Magne, David Geneviève, Joel Victor Fluss, Alain Verloes, Anne Rolland, Martial Mallaret, Lydia Abou Haidar, Nadia Bahi-Buisson, David Baux, Catherine Sarret, Nicolas Carrière, Christine Coubes, Mathilde Renaud, Claire Ewenczyk, Patrick Calvas, Solène Frismand, Leila Lazaro, Bertrand Isidor, Annabelle Chaussenot, Sophie Julia, Valerie Fraix, Elsa Kaphan, Tatiana Witjas, Frédérique Fluchère, Mathieu Anheim, Christine Tranchant, William Camu, Eric Thouvenot, Lise Larrieu, Eric Bieth, Ariane Choumert, Raoul Morales, Marinha Costa Moreira, Elizabeth Ollagnon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩
International audience; Purpose: Diagnosis of inherited ataxia and related diseases represents a real challenge given the tremendous heterogeneity and clinical overlap of the various causes. We evaluated the efficacy of molecular diagnosis of these d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::babfbeb68f31ca6afb2b34ab5e5a2e4e
https://hal.archives-ouvertes.fr/hal-03282716
https://hal.archives-ouvertes.fr/hal-03282716
Autor:
Anne Bergougnoux, Guy Lalau, Christelle Willoquaux, M.-P. Reboul, Emmanuelle Girodon, Thierry Bienvenu, Maryse Kesteloot, C. Raynal, A. Pagin, Mathilde Humbert, Eric Bieth
Publikováno v:
Andrology
Andrology, Wiley, 2019, ⟨10.1111/andr.12744⟩
Andrology, Wiley, 2019, ⟨10.1111/andr.12744⟩
International audience; BACKGROUND:Congenital absence of vas deferens (CAVD) represents a major cause of obstructive azoospermia and is mainly related to biallelic alteration of the CFTR gene, also involved in cystic fibrosis. Using whole exome seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::962e0f31f454275f7ca8a13993b275cc
https://hal.umontpellier.fr/hal-02524235
https://hal.umontpellier.fr/hal-02524235
Autor:
Michel Galinier, Michel Haïssaguerre, Benjamin Monteil, Delphine Dupin-Deguine, Didier Carrié, Frederic Sacher, Quentin Voglimacci-Stephanopoli, Franck Mandel, Anne Rollin, Mélèze Hocini, Philippe Maury, Eric Bieth, Pierre Mondoly, Fatiha Sebai
Publikováno v:
Pacing and clinical electrophysiology : PACEREFERENCES. 43(4)
Background Brugada syndrome (BrS) is sometimes diagnosed because of chest pain. Prevalence and characteristics of such BrS patients are unknown. Methods A total of 200 BrS probands were retrospectively included. BrS diagnosis made because of chest pa
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient
Autor:
Justine Lerat, Eric Bieth, Hélène Beauvais-Dzugan, Corinne Magdelaine, Anne-Sophie Lia, Paco Derouault, Blandine Acket, Franck Sturtz, Marie-Christine Arne-Bes
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background CMTX5 is characterized by peripheral neuropathy, early‐onset sensorineural hearing impairment, and optic neuropathy. Only seven variants have been reported and no genotype‐phenotype correlations have yet been established. PRPS1 has a c
Autor:
Jean-Michel Oppert, Eric Bieth, Laurence Cuisset, Jean-Marc Lacorte, Virginie Laurier, Muriel Coupaye, Maithé Tauber, Karine Clément, Christine Poitou
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 101:4895-4903
Adults with Prader-Willi syndrome (PWS) have an increased proportion of sc fat mass compared with body mass index (BMI)-matched controls, but whether the genotype influences body composition and metabolic profile remains controversial.To assess body
Autor:
François Isus, B. Delaunay, Isabelle Fauquet, Safouane M. Hamdi, Eric Huyghe, Myriam Daudin, Louis Bujan, Roger Mieusset, Eric Bieth, Laetitia Monteil
Publikováno v:
AndrologyREFERENCES. 8(3)
Background Men with congenital unilateral absence of vas deferens were reported to be mainly azoospermic, with both unilateral renal absence and mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) but some have neither. Object