Publications by authors named "Servane Alirol"

2Publications

A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

Authors:
Marie-Laure Vuillaume Médéric Jeanne Li Xue Sophie Blesson Anne-Sophie Denommé-Pichon Servane Alirol Céline Brulard Estelle Colin Bertrand Isidor Brigitte Gilbert-Dussardier Sylvie Odent Philippe Parent Audrey Donnart Richard Redon Stéphane Bézieau Philippe Rondard Frédéric Laumonnier Annick Toutain

Ann Neurol 2018 02 7;83(2):437-439. Epub 2018 Feb 7.

Genetics Department, University Hospital Center, Tours.

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February 2018

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Authors:
Hiromi Hirata Indrajit Nanda Anne van Riesen Gai McMichael Hao Hu Melanie Hambrock Marie-Amélie Papon Ute Fischer Sylviane Marouillat Can Ding Servane Alirol Melanie Bienek Sabine Preisler-Adams Astrid Grimme Dominik Seelow Richard Webster Eric Haan Alastair MacLennan Werner Stenzel Tzu Ying Yap Alison Gardner Lam Son Nguyen Marie Shaw Nicolas Lebrun Stefan A Haas Wolfram Kress Thomas Haaf Elke Schellenberger Jamel Chelly Géraldine Viot Lisa G Shaffer Jill A Rosenfeld Nancy Kramer Rena Falk Dima El-Khechen Luis F Escobar Raoul Hennekam Peter Wieacker Christoph Hübner Hans-Hilger Ropers Jozef Gecz Markus Schuelke Frédéric Laumonnier Vera M Kalscheuer

Am J Hum Genet 2013 May 25;92(5):681-95. Epub 2013 Apr 25.

Center for Frontier Research, National Institute of Genetics, Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Mishima 411-8540, Japan.

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May 2013