Dorothee M Ville (Dorothée Ville)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 7

Top Topics

Intellectual Disability

Top Venues

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Busra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne-Lise Poulat, Ayten Güleç, Colette Berger, Dorothee M Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustín Rodriguez-Palmero, Nicolas Chatron, Gaëtan Lesca, Huseyin Per, Himanshu Goel, Janis Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stephanie Efthymiou
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy. Neurology. Genetics 10 (4) (2024)
Gianni Cutillo, Silvia Masnada, Gaëtan Lesca, Dorothee M Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti
Electroclinical features and phenotypic differences in Adenylosuccinate lyase deficiency: long term follow-up of seven patients from four families and appraisal of the literature. Epilepsia open (2023)
Pierre-Yves Maillard, Sarah Baer, Élise Schaefer, Beatrice Desnous, Nathalie Villeneuve, Anne Lépine, Alexandre Fabre, Caroline Lacoste, Salima El Chehadeh, Amélie Piton, Louise Frances Porter, Caroline Perriard, Marie-Thérèse Abi Wardé, Marie-Aude Spitz, Vincent Laugel, Gaëtan Lesca, Audrey Putoux, Dorothee M Ville, Cyril Mignot, Delphine Héron, Rima Nabbout, Giulia Barcia, Marlène Rio, Agathe Roubertie, Pierre Meyer, Véronique Paquis-Flucklinger, Olivier Patat, Jérémie Lefranc, Marion Gerard, null null, Julietta de Bellescize, Laurent Villard, Anne De Saint Martin, Mathieu Milh
Molecular and clinical descriptions of patients with GABA A receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation. Epilepsia 63 (10) (2022)
Alexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, Sarah E Buerki, Fiona Gardiner, J Helen Cross, Bénédicte Heron, Anna Kaminska, Christian M Korff, Anne Lepine, Gaëtan Lesca, Amy McTague, Heather C Mefford, Cyrill Mignot, Matthieu Milh, Amélie Piton, Ronit M Pressler, Susanne Ruf, Lynette Grant Sadleir, Anne de Saint Martin, Koen Van Gassen, Nienke E Verbeek, Dorothee M Ville, Nathalie Villeneuve, Pia Zacher, Ingrid Eileen Scheffer, Johannes R Lemke
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. Epilepsia 62 (2) (2021)
Katrine Marie Johannesen, Diana Mitter, Robert Janowski, Christian Roth, Joseph Toulouse, Anne-Lise Poulat, Dorothee M Ville, Nicolas Chatron, Eva H Brilstra, Karin Geleijns, Alfred Peter Born, Scott McLean, Kimberly Nugent, Gareth S Baynam, Cathryn Poulton, Lauren Dreyer, Dylan Gration, Solveig Schulz, Andrea Dieckmann, Katherine L Helbig, Andreas Merkenschlager, Rami Abou Jamra, Anja Finck, Elena Gardella, Henrik Hjalgrim, Ghayda M Mirzaa, Francesco Brancati, Tatjana Bierhals, Jonas Denecke, Maja Hempel, Johannes R Lemke, Guido Rubboli, Petra Muschke, Renzo Guerrini, Annalisa Vetro, Dierk Niessing, Gaëtan Lesca, Rikke Steensjerre Moller
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurology. Genetics 5 (6) (2019)