Research Associate
Available to host a PhD student
Role of Wnt signaling during neuromuscular junction formation and maintenance


We are a group with tight scientific links, interest and expertise, that focus on human diseases as natural conditions unraveling yet unknown biological mechanisms. We study pure monogenic diseases (...



1999 PhD in Human Genetics, UPMC-Paris VI

2009 Habilitation à diriger des recherches, UPMC-Paris VI


Research experience

1995-1999 PhD student, ?Neurobiologie Cellulaire et Moléculaire?, Inserm, U134 (Dr N Baumann)

1999-2000 Post-doctorat, ?Pathologies de la myéline?, Inserm, CJF9711 (Dr A Baron Van Evercooren).

2000-2002 Post-doctorat, ?Neurogénétique moléculaire?, Inserm, E9913 (Dr J Melki)

2002-2009 Research associate at Inserm, ?Affections de la myéline et des canaux ioniques musculaires?, Inserm, U546 (Prof B Fontaine)

Since 2009 Research associate, Inserm U975, UPMC-Paris VI UMR_S975, CNRS UMR7225 ?Centre de Recherche de l?Institut du Cerveau et de la Moelle Epinière? (Dr B Zalc)


Awards and distinctions

1995 Doctoral fellowship of the French Ministry of Research

1998 Doctoral fellowship of the French Academy of Medicine

2000 Post-doctoral fellowship of the Association Française contre les Myopathies

2006-2011 Consultant in Genetics for the Department of Neurology, GH Pitié-Salpêtrière, AP-HP

2009 Senior price for Research on Paediatric Diseases, Association for the Research on Paediatric Diseases

Research leadership activities

Since 2002 Referent for health and safety in research laboratories

Since 2004 Principal investigator

Since 2006 Elected member of the research center council

Since 2009 Member of the pedagogical committee of the doctoral school ?Brain, comportment and cognition?, UPMC-Paris VI,University René Descartes and EHESS.


Selected publications

Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Ben Hamida C, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B. "Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)". Nature Genetics 2000; 26: 480-483. IF34.28

Nicole S, Desforges B, Millet G, Lesbordes J, Cifuentes-Diaz C, Vertes D, Linh Cao M, De Backer F, Languille L, Roblot N, Joshi V, Gillis JM and Melki J. ?Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle?. J Cell Biol 2003; 161: 571-582. IF9.92

Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J, et al. "Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping." Hum Mol Genet 1995; 4: 1633-1636. IF8.06

Stum M, Bangratz M, Girard E, Bernard V, Herbin M, Vignaud A, Ferry A, Davoine CS, Echaniz-Laguna A, René F, Marcel C, Molgó J, Krejci E, Fontaine B and Nicole S. ?Evidence of a dosage effect and a physiological acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia? Hum Mol Genet 2008; 17: 3166-3179. IF8.06 Bangratz M, Sarrazin N, Devaux J, Zambroni D, Echaniz-Laguna A, René F, Boërio D, Davoine CS, Fontaine B, Feltri ML, Benoit E, Nicole S. ?A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking?. Am J Pathol 2012; 180(5):2040-55. IF5.97