Mignot Cyril (Cyril Mignot, C Mignot)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 6

Top Topics

Peritoneal Dialysis

Ejection Fraction

Mitochondrial Dna

Top Venues

European journal of neurology

The Journal of experimental medicine

Acta neuropathologica communications

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

Publications

Yeboah Kofi Gyening, Boris Keren, Mignot Cyril, Richard S Brush, Marie-Cécile Nassogne, Martin-Paul Agbaga
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report. Acta neuropathologica communications 11 (1) (2023)
Claire Pujol, Anne Legrand, Livia Parodi, Priscilla Thomas, Fanny Mochel, Dario Saracino, Giulia Coarelli, Marijana Croon, Milica Popovic, Manon Valet, Nicolas Villain, Shahira Elshafie, Mahmoud Y Issa, Stéphane Zuily, Mathilde Renaud, Cécilia Marelli-Tosi, Marine Legendre, Aurélien Trimouille, Isabelle Kemlin, Sophie Mathieu, Joseph G Gleeson, Foudil Lamari, Daniele Galatolo, Rana Alkouri, Chantal Tse, Diana Rodriguez, Claire Ewenczyk, Florence Fellmann, Thierry Kuntzer, Emilie Blond, Khalid Hamid El Hachimi, Frédéric Darios, Alexandre Seyer, Anastasia D Gazi, Patrick Giavalisco, Silvina Perin, Jean-Luc Boucher, Laurent Le Corre, Filippo Maria Santorelli, Cyril Goizet, Maha Saad Zaki, Serge Picaud, Arnaud Mourier, Sophie Marie Steculorum, Mignot Cyril, Alexandra Dürr, Aleksandra Trifunovic, Giovanni Stevanin
Implication of folate deficiency in CYP2U1 loss of function. The Journal of experimental medicine 218 (11) (2021)
Ilaria Parenti, Daphne Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
M G Bah, Diana Rodriguez, C Cazeneuve, Fanny Mochel, David Devos, Agnese Suppiej, Agathe Roubertie, Isabelle Meunier, Cyril Gitiaux, Aurore Curie, F Klapczynski, N Allani-Essid, M Carneiro, R Van Minkelen, Anneke J A Kievit, Joël Fluss, B Leheup, Ilham Ratbi, D Héron, D Gras, Jeremy Do Cao, S Pichard, I Strubi-Villaume, Isabelle Audo, Gaëtan Lesca, Perrine Charles, F Dubois, P Comet-Didierjean, Y Capri, C Barondiot, M Barathon, Claire Ewenczyk, Alexandra Dürr, Mignot Cyril
Deciphering the natural history of SCA7 in children. European journal of neurology 27 (11) (2020)
Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stránecký, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Mignot Cyril, Marlène Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS genetics 14 (11) (2018)
Paul Kuentz, Judith St-Onge, Yannis Duffourd, Jean-Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, Claire Abasq-Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attie-Bitach, Nadia Bahi-Buisson, Sébastien Barbarot, Geneviève Baujat, Didier Bessis, Olivia Boccara, Maryse Bonnière, Odile Boute, Anne-Claire Bursztejn, Christine Chiaverini, Valerie Cormier-Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Genevieve, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie-Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jelena Martinovic, Annabel Maruani, Michèle Mathieu-Dramard, Juliette Mazereeuw-Hautier, Caroline Michot, Mignot Cyril, Juliette Miquel, Fanny Morice-Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloes, Marie Vincent, Catherine Vincent-Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphne Lehalle, Julien Thevenon, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Pierre Vabres, Jean-Baptiste Rivière
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genetics in medicine : official journal of the American College of Medical Genetics 19 (9) (2017)