Publications
2019
Article in a journal
Expansions de répétitions introniques ATTTC dans STARD7 dans l'épilepsie myoclonique familiale adulte liée au chromosome 2, Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
- Mark Corbett
- Thessa Kroes
- Liana Veneziano
- Mark Bennett
- Rahel Florian
- Amy Schneider
- Antonietta Coppola
- Laura Licchetta
- Silvana Franceschetti
- Antonio Suppa
- Aaron Wenger
- Davide Mei
- Manuela Pendziwiat
- Sabina Kaya
- Massimo Delledonne
- Rachel Straussberg
- Luciano Xumerle
- Brigid Regan
- Douglas Crompton
- Anne-Fleur van Rootselaar
- ...
Nature Communications ; Volume: 10
Article in a journal
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment
- Angélique Quartier
- Jérémie Courraud
- Thuong Thi Ha
- George Mcgillivray
- Bertrand Isidor
- Katherine Rose
- Nathalie Drouot
- Marie Savidan
- Claire Feger
- Hélène Jagline
- Jamel Chelly
- Marie Shaw
- Frédéric Laumonnier
- Jozef Gecz
- Jean-Louis Mandel
- Amélie Piton
Human Mutation ; Volume: 40 ; Page: 2021-2032
Article in a journal
An actin-based viscoplastic lock ensures progressive body-axis elongation
- Alicia Lardennois
- Teresa Ferraro
- Flora Llense
- Michel Labouesse
- Gabriella Pásti
- Julien Pontabry
- David Rodriguez
- Samantha Kim
- Christelle Gally
- Pierre Mahou
- Emmanuel Beaurepaire
- Shoichiro Ono
Nature ; Volume: 573 ; Page: 266-270
Article in a journal
The plakin domain of C. elegans VAB-10/plectin acts as a hub in a mechanotransduction pathway to promote morphogenesis
- Shashi Kumar Suman
- Csaba Daday
- Teresa Ferraro
- Thanh Vuong-Brender
- Saurabh Tak
- Sophie Quintin
- François Robin
- Frauke Gräter
- Michel Labouesse
Development (Cambridge, England) ; Volume: 146
Article in a journal
The Repo Homeodomain Transcription Factor Suppresses Hematopoiesis in Drosophila and Preserves the Glial Fate
- Guillaume Trebuchet
- Pierre Cattenoz
- János Zsámboki
- David Mazaud
- Daria E Siekhaus
- Manolis Fanto
- Angela Giangrande
Journal of Neuroscience ; Volume: 39 ; Page: 238-255
Article in a journal
Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies
- M Synofzik
- Hélène Puccio
- F Mochel
- L Schols
Neuron ; Volume: 101 ; Page: 560-583
Article in a journal
Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
- Anika Wehrle
- Tomasz M Witkos
- Sheila Unger
- Judith Schneider
- John A Follit
- Johannes Hermann
- Tim Welting
- Virginia Fano
- Marja Hietala
- Nithiwat Vatanavicharn
- Katharina Schoner
- Jürgen Spranger
- Miriam Schmidts
- Bernhard Zabel
- Gregory J Pazour
- Agnès Bloch-Zupan
- Gen Nishimura
- Andrea Superti-Furga
- Martin Lowe
- Ekkehart Lausch
JCI Insight ; Volume: 4 ; Page: e124701
Article in a journal
[Too old for that? Only others believe it]= Trop vieille pour ca? Seuls les autres le croient
- Carole Mathelin
- I Nisand
Gynécologie Obstétrique Fertilité & Sénologie ; Volume: 47 ; Page: 547-548
2018
Article in a journal
Chromatin de-condensation by switching substrate elasticity
- Morgane Rabineau
- Florence Flick
- Claire Ehlinger
- Eric Mathieu
- Isabelle Duluc
- Matthieu Jung
- Bernard Senger
- Leyla Kocgozlu
- Pierre Schaaf
- Philippe Lavalle
- Jean-Noël Freund
- Youssef Haikel
- Dominique Vautier
Scientific Reports ; Volume: 8
Article in a journal
STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice
- Roberto Silva Rojas
- Susan Treves
- Hugues Jacobs
- Pascal Kessler
- Nadia Messaddeq
- Jocelyn Laporte
- Johann Böhm
Human Molecular Genetics ; Volume: 28 ; Page: 1579-1593