Scientific publications
Publications
2017
Article in a journal
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome
- Chantal Sellier
- Ronald Buijsen
- Fang He
- Sam Natla
- Laura Jung
- Philippe Tropel
- Angeline Gaucherot
- Hugues Jacobs
- Hamid Meziane
- Alexandre Vincent
- Marie-France Champy
- Tania Sorg
- Guillaume Pavlovic
- Marie Wattenhofer-Donze
- Marie-Christine Birling
- Mustapha Oulad-Abdelghani
- Pascal Eberling
- Frank Ruffenach
- Mathilde Joint
- Mathieu Anheim
- ...
Neuron ; Volume: 93 ; Page: 331-347
Article in a journal
WANTED – Dead or alive: Myotubularins, a large disease-associated protein family
- Matthieu Raess
- Sylvie Friant
- Belinda S. Cowling
- Jocelyn Laporte
Advances in Biological Regulation ; Volume: 63 ; Page: 49-58
Article in a journal
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1
- Jamal Ghoumid
- Morgane Stichelbout
- Anne-Sophie Jourdain
- Frederic Frenois
- Sophie Lejeune-Dumoulin
- Marie-Pierre Alex-Cordier
- Marine Lebrun
- Pierre Guerreschi
- Veronique Duquennoy-Martinot
- Matthieu Vinchon
- Joel Ferri
- Matthieu Jung
- Serge Vicaire
- Clémence Vanlerberghe
- Fabienne Escande
- Florence Petit
- Sylvie Manouvrier-Hanu
Genetics in Medicine ; Volume: 19 ; Page: 1013-1021
Article in a journal
Rodent models in Down syndrome research: impact and future opportunities
- Yann Herault
- Jean M. Delabar
- Elizabeth M. C. Fisher
- Victor L. J. Tybulewicz
- Eugene Yu
- Veronique Brault
Disease Models & Mechanisms ; Volume: 23 ; Page: 578-589
Article in a journal
Comparative performance analysis of human iPSC-derived and primary neural progenitor cells (NPC) grown as neurospheres in vitro
- Maxi Hofrichter
- Laura Nimtz
- Julia Tigges
- Yaschar Kabiri
- Friederike Schroter
- Brigitte Royer-Pokora
- Barbara Hildebrandt
- Martin Schmuck
- Alexey Epanchintsev
- Stephan Theiss
- James Adjaye
- Jean-Marc Egly
- Jean Krutmann
- Ellen Fritsche
Stem Cell Research ; Volume: 25 ; Page: 72-82
Article in a journal
Prise en charge des cancers du sein : le changement, c’est maintenant ! [Breast cancer management: The change is now!]
- Carole Mathelin
- Elisabeth Luporsi
Gynécologie Obstétrique Fertilité & Sénologie ; Volume: 45 ; Page: 3-4
Article in a journal
Detecting Spatial Chromatin Organization by Chromosome Conformation Capture II: Genome-Wide Profiling by Hi-C
- Matteo Viettri Rudan
- Suzana Hadjur
- Thomas Sexton
Methods in Molecular Biology ; Volume: 1589 ; Page: 47-74
Article in a journal
A novel recurrent LIS1 splice site mutation in classic lissencephaly
- Marion Philbert
- Camille Maillard
- Mara Cavallin
- Alice Goldenberg
- Cecile Masson
- Nathalie Boddaert
- Adrienne El Morjani
- Julie Steffann
- Jameleddine Chelly
- Xavier Gerard
- Nadia Bahi-Buisson
American Journal of Medical Genetics Part A ; Volume: 173 ; Page: 561-564
Article in a journal
BRG1-SWI/SNF-dependent regulation of the Wt1 transcriptional landscape mediates epicardial activity during heart development and disease
- Joaquim Vieira
- Sara Howard
- Cristina Villa del Campo
- Sveva Bollini
- Karina Dubé
- Megan Masters
- Damien Barnette
- Mala Rohling
- Xin Sun
- Laura Hankins
- Daria Gavriouchkina
- Ruth Williams
- Daniel Metzger
- Pierre Chambon
- Tatjana Sauka-Spengler
- Benjamin Davies
- Paul Riley
Nature Communications ; Volume: 8
Article in a journal
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
- Elisa Giorgio
- Giovanna Vaula
- Paolo Benna
- Nicola Lo Buono
- Chiara Eandi
- Daniele Dino
- Cecilia Mancini
- Simona Cavalieri
- Eleonora Di Gregorio
- Elisa Pozzi
- Marta Ferrero
- Maria Giordana
- Christel Depienne
- Alfredo Brusco
Journal of neurology, neurosurgery, and psychiatry ; Volume: 88 ; Page: 894-896