Resultados de búsqueda - Pierre Meyer
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1
Acute Pancreatitis and Normoamylasemia por Pierre–Alain Clavien, J.W. Faller, Pierre Meyer, F Borst, H Hauser, François R. Herrmann, Viviane A. Dunand, A Rohner
Publicado 1989Artigo -
2
<i>FGF14</i>‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9 por Julie Piarroux, Florence Riant, Véronique Humbertclaude, Ganaëlle Remérand, Jessica Hadjadj, F Rejou, Christine Coubes, Lucile Pinson, Pierre Meyer, Agathe Roubertie
Publicado 2020Artigo -
3
Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort por Gaëlle Blanchard, Marie-Pierre Lafforgue, Laurence Lion‐François, Isabelle Kemlin, Diana Rodriguez, Pierre Castelnau, Maryline Carneiro, Pierre Meyer, François Rivier, S. Barbarot, Yves Chaix
Publicado 2015Artigo -
4
Left Ventricular Rapid Pacing Via the Valve Delivery Guidewire in Transcatheter Aortic Valve Replacement por Benjamin Faurie, Géraud Souteyrand, Patrick Staat, Matthieu Godin, Christophe Caussin, Éric Van Belle, Lionel Mangin, Pierre Meyer, Nicolas Dumonteil, Mohamed Abdellaoui, Jacques Monségu, Isabelle Durand‐Zaleski, Thierry Lefèvre
Publicado 2019Artigo -
5
Speckle-Tracking Echocardiography in Children With Duchenne Muscular Dystrophy: A Prospective Multicenter Controlled Cross-Sectional Study por Pascal Amédro, Marie Vincenti, Grégoire De La Villeon, Kathleen Lavastre, Catherine Barréa, Sophie Guillaumont, Charlène Bredy, Lucie Gamon, Albano C. Méli, Olivier Cazorla, Jérémy Fauconnier, Pierre Meyer, François Rivier, Jérôme Adda, Thibault Mura, Alain Lacampagne
Publicado 2019Artigo -
6
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies por Nathan L. Absalom, Vivian W. Y. Liao, Katrine M. Johannesen, Elena Gardella, Julia Jacobs, Gaëtan Lesca, Zeynep Gokce‐Samar, Alexis Arzimanoglou, Shimriet Zeidler, Pasquale Striano, Pierre Meyer, Ira Benkel-Herrenbrueck, Inger‐Lise Mero, Jutta Rummel, Mary Chebib, Rikke S. Møller, Philip K. Ahring
Publicado 2022Artigo -
7
Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals por Caroline Rey, Laetitia Giorgi, Hélène Maurey, Anne‐Lise Poulat, D. Amsallem, Anne Lépine, Stéphane Auvin, Renaldo Florence, Juliette Ropars, Emmanuel Cheuret, Sarah Baer, J.-M. Pinard, Anne Rolland, Pierre-Louis Léger, Sylvie Nguyen The Tich, Pierre Castelnau, Pierre Meyer, Sylvain Renolleau, Diana Rodriguez, Frédéric Villega, Kumaran Deiva
Publicado 2025Artigo -
8
Clinical Features and Risk of Relapse in Children and Adults with Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease por Álvaro Cobo‐Calvo, Anne Ruiz, Fabien Rollot, Georgina Arrambide, Romain Deschamps, Élisabeth Maillart, Caroline Papeix, Bertrand Audoin, Anne Lépine, Hélène Maurey, Hélène Zephir, Damien Biotti, Jonathan Ciron, Françoise Durand‐Dubief, Nicolas Collongues, Xavier Ayrignac, Pierre Labauge, Pierre Meyer, Éric Thouvenot, Bertrand Bourre, Alexis Montcuquet, Mikaël Cohen, Philippe Horello, Mar Tintoré, de Sèze, Sandra Vukusic, Kumaran Deiva, Romain Marignier
Publicado 2020Artigo -
9
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans por Jack J. Collier, Claire Guissart, Monika Oláhová, Souphatta Sasorith, Florence Piron‐Prunier, Fumi Suomi, David Zhang, Ubaldo Martinez‐Outschoorn, Nicolas Leboucq, Angela Bahr, Silvia Azzarello‐Burri, Selina Reich, Lüdger Schöls, Tuomo Polvikoski, Pierre Meyer, Lise Larrieu, Andrew M. Schaefer, Hessa S. Alsaif, Suad Alyamani, Stephan Züchner, Inês A. Barbosa, Charu Deshpande, Angela Pyle, Anita Rauch, Matthis Synofzik, Fowzan S. Alkuraya, François Rivier, Mina Ryten, Robert McFarland, Agnés Delahodde, Thomas G. McWilliams, M. Kœnig, Robert W. Taylor
Publicado 2021Artigo -
10
Molecular and clinical descriptions of patients with <scp>GABA<sub>A</sub></scp> receptor gene variants (<i><scp>GABRA1</scp>, <scp>GABRB2</scp>, <scp>GABRB3</scp>, <scp>GABRG2</sc... por Pierre‐Yves Maillard, Sarah Baer, Élise Schaefer, Béatrice Desnous, Nathalie Villeneuve, Anne Lépine, Alexandre Fabre, Caroline Lacoste, Salima El Chehadeh, Amélie Piton, Louise F. Porter, Caroline Perriard, Marie‐Thérèse Abi Wardé, Marie‐Aude Spitz, Vincent Laugel, Gaëtan Lesca, Audrey Putoux, Dorothée Ville, Cyril Mignot, Delphine Héron, Rima Nabbout, Giulia Barcia, Marlène Rio, Agathe Roubertie, Pierre Meyer, Véronique Paquis‐Flucklinger, Olivier Patat, Jérémie Lefranc, Marion Gérard, Julietta de Bellescize, Laurent Villard, Anne de Saint Martin, Mathieu Milh
Publicado 2022Revisão -
11
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome por Gillian Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, Michaëla Semeraro, Leo Zeef, Flore Rozenberg, Vincent Bondet, Darragh Duffy, Alba Llibre, Jinmi Baek, Mame N Sambe, Elodie Henry, Valérie Jolaine, Christine Barnérias, Magalie Barth, Alexandre Bélot, Claude Cancès, François‐Guillaume Debray, Diane Doummar, Marie‐Louise Frémond, Naoki Kitabayashi, Alice Lepelley, Virginie Levrat, Isabelle Melki, Pierre Meyer, Marie‐Christine Nouguès, Florence Renaldo, Mathieu P. Rodero, Diana Rodriguez, Agathe Roubertie, Luís Seabra, Carolina Uggenti, Hendy Abdoul, Jean‐Marc Tréluyer, Isabelle Desguerre, Stéphane Blanche, Yanick J. Crow
Publicado 2018Carta -
12
Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature por Claire Bar, Giulia Barcia, Mélanie Jennesson, Gwenaël Le Guyader, Amy L. Schneider, Cyril Mignot, Gaëtan Lesca, Delphine Breuillard, Martino Montomoli, Boris Keren, Diane Doummar, Thierry Billette de Villemeur, Alexandra Afenjar, Isabelle Marey, Marion Gérard, Hervé Isnard, Alice Poisson, S. Dupont, Patrick Berquin, Pierre Meyer, David Geneviève, Anne de Saint Martin, Salima El Chehadeh, Jamel Chelly, Agnès Guët, Emmanuel Scalais, Nathalie Dorison, Candace T. Myers, Heather C. Mefford, Katherine B. Howell, Carla Marini, Jeremy L. Freeman, Anca Nica, Gaetano Terrone, Tayeb Sékhara, Anne-Sophie Lèbre, Sylvie Odent, Lynette G. Sadleir, Arnold Munnich, Renzo Guerrini, Ingrid E. Scheffer, Edor Kabashi, Rima Nabbout
Publicado 2019Revisão -
13
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics por Anaïs Begemann, Heinrich Sticht, Amber Begtrup, Antonio Vitobello, Laurence Faivre, Siddharth Banka, Bader Alhaddad, Reza Asadollahi, Jessica Becker, Tatjana Bierhals, Kathleen Brown, Ange‐Line Bruel, Theresa Brunet, Maryline Carneiro, Kirsten Cremer, Robert C. Day, Anne‐Sophie Denommé‐Pichon, Dave A. Dyment, Hartmut Engels, Rachel S. Fisher, Elaine Goh, M.J. Hajianpour, Lucia Ribeiro Machado Haertel, Nadine Hauer, Maja Hempel, Theresia Herget, Jessika Johannsen, Cornelia Kraus, Gwenaël Le Guyader, Gaëtan Lesca, Frédéric Tran Mau‐Them, John McDermott, Kirsty McWalter, Pierre Meyer, Katrin Õunap, Bernt Popp, Tiia Reimand, Korbinian M. Riedhammer, Martina Russo, Lynette G. Sadleir, Margarita Sáenz, Manuel Schiff, Elisabeth Schuler, Steffen Syrbe, Amelie T. van der Ven, Alain Verloès, Marjolaine Willems, Christiane Zweier, Katharina Steindl, Markus Zweier, Anita Rauch
Publicado 2020Artigo
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