Stéphanie Bauché

Years Active: 2017-2020
Publications (10 Years): 2

Université Pierre et Marie Curie (PHD)

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

Education History

Université Pierre et Marie Curie Dec 01 2008

France

PHD :: Institut of Brain and Spine

Publications

Stéphanie Bauché, Alain Sureau, Damien Sternberg, John Rendu, Céline Buon, Julien Messéant, Myriam Boëx, Denis Furling, Julien Fauré, Xénia Latypova, Antoinette Bernabe Gelot, Michèle Mayer, Pierre Mary, Sandra Whalen, Emmanuel Fournier, Isabelle Cloix, Ganaelle Remerand, Fanny Laffargue, Marie-Christine Nougues, Bertrand Fontaine, Bruno Eymard, Arnaud Isapof, Laure Strochlic
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes. Neurology. Genetics 6 (6) (2020)
Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaï, Nathalie Streichenberger, Veronique Manel, Arnaud Lacour, Aleksandra Nadaj-Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, Bruno Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. Journal of neurology 264 (8) (2017)

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