Publications
2013
Article in a journal
Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy
- Johann Böhm
- Nasim Vasli
- Marie Maurer
- Belinda Cowling
- G. Diane Shelton
- Wolfram Kress
- Anne Toussaint
- Ivana Prokic
- Ulrike Schara
- Thomas James Anderson
- Joachim Weis
- Laurent Tiret
- Jocelyn Laporte
PLoS Genetics ; Volume: 9, online ; Page: Non paginé
Article in a journal
Estrogen treatment after ovariectomy protects against fatty liver and may improve pathway-selective insulin resistance
- Lin Zhu
- William C. Brown
- Qing Cai
- Andree Krust
- Pierre Chambon
- Owen P. Mcguinness
- John M. Stafford
Diabetes ; Volume: 62 ; Page: 424-434
Article in a journal
The cohesin complex regulates immunoglobulin class switch recombination
- Anne-Sophie Thomas-Claudepierre
- Ebe Schiavo
- Vincent Heyer
- Marjorie Fournier
- Adeline Page
- Isabelle Robert
- Bernardo Reina-San-Martin
Journal of Experimental Medicine ; Volume: 210 ; Page: 2495--2502
Article in a journal
Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish
- Vandana A. Gupta
- Karim Hnia
- Laura L. Smith
- Stacey R. Gundry
- Jessica E. Mcintire
- Junko Shimazu
- Jessica R. Bass
- Ethan A. Talbot
- Leonela Amoasii
- Nathaniel E. Goldman
- Jocelyn Laporte
- Alan H. Beggs
PLoS Genetics ; Volume: 9 ; Page: e1003583
Article in a journal
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family
- Mohammad Abu-Rashid
- Muhammad Mahajnah
- Lutfi Jaber
- Liora Kornreich
- Elchanan Bar-On
- Lina Basel-Vanagaite
- Dov Soffer
- Michel Koenig
- Rachel Straussberg
European journal of paediatric neurology ; Volume: 17 ; Page: 259-264
Article in a journal
Heparan sulfate proteoglycans mediate internalization and propagation of specific proteopathic seeds
- Brandon B. Holmes
- Sarah Lorraine Devos
- Najla Kfoury
- Mei Li
- Rachel Jacks
- Kiran Yanamandra
- Mohand Ouidir Ouidja
- Frances M. Brodsky
- Jayne Marasa
- Devika P. Bagchi
- Paul T. Kotzbauer
- Timothy M. Miller
- Dulce Papy-Garcia
- Marc I. Diamond
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 110 ; Page: E3138--E3147
Article in a journal
Frataxin: a protein in search for a function
- Annalisa Pastore
- Hélène Puccio
Journal of Neurochemistry ; Volume: 126 Suppl 1 ; Page: 43-52
Article in a journal
Aldo-keto reductases in retinoid metabolism: search for substrate specificity and inhibitor selectivity
- Sergio Porté
- Francesc Xavier Ruiz
- Joan Gimenez
- Iago Molist
- Susana Alvarez
- Marta Domínguez
- Rosana Alvarez
- Angel R. de Lera
- Xavier Parés
- Jaume Farrés
Chemico-Biological Interactions ; Volume: 202 ; Page: 186-194
Article in a journal
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
- Olga Koutsopoulos
- Christine Kretz
- Claudia Weller
- Aurélien Roux
- Halina Mojzisova
- Johann Böhm
- Catherine Koch
- Anne Toussaint
- Emilie Heckel
- Daphne Stemkens
- Simone ter Horst
- Christelle Thibault
- Muriel Koch
- Syed Mehdi
- Emilia Bijlsma
- Jean-Louis Mandel
- Julien Vermot
- Jocelyn Laporte
European Journal of Human Genetics ; Volume: 21 ; Page: 637-342
Article in a journal
Manteia, a predictive data mining system for vertebrate genes and its applications to human genetic diseases
- Olivier Tassy
- Olivier Pourquié
Nucleic Acids Research ; Volume: 42 ; Page: D882 - D891