Scientific publications
Publications
2018
Article in a journal
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
- Macarena Cabrera-Serrano
- Fabiola Mavillard
- Valerie Biancalana
- Eloy Rivas
- Bharti Morar
- Aurelio Hernandez-Lain
- Montse Olive
- Nuria Muelas
- Eduardo Khan
- Alejandra Carvajal
- Pablo Quiroga
- Jordi Diaz-Manera
- Mark Davis
- Rainiero Avila
- Cristina Dominguez
- Norma Romero
- Juan Vilchez
- David Comas
- Nigel Laing
- Jocelyn Laporte
- ...
Neurology ; Volume: 91 ; Page: 339-348
Article in a journal
Role of Amyloid Precursor Protein (APP) and Its Derivatives in the Biology and Cell Fate Specification of Neural Stem Cells
- Raquel Coronel
- Adela Bernabeu-Zornoza
- Charlotte Palmer
- Maria del Mar Muniz Moreno
- Alberto Zambrano
- Eva Cano
- Isabel Liste
Molecular Neurobiology ; Volume: 55 ; Page: 7107-7117
Article in a journal
Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome
- Giovanni Iacono
- Aline Dubos
- Hamid Meziane
- Marco Benevento
- Ehsan Habibi
- Amit Mandoli
- Fabrice Riet
- Mohammed Selloum
- Robert Feil
- Huiqing Zhou
- Tjitske Kleefstra
- Nael Nadif Kasri
- Hans van Bokhoven
- Yann Hérault
- Hendrik Stunnenberg
Nucleic Acids Research ; Volume: 46 ; Page: 4950–4965
Article in a journal
Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders
- Solveig Montaut
- Christine Tranchant
- Nathalie Drouot
- Gabrielle Rudolf
- Claire Guissart
- Julien Tarabeux
- Tristan Stemmelen
- Amandine Velt
- Cécile Fourrage
- Patrick Nitschké
- Bénédicte Gerard
- Jean-Louis Mandel
- Michel Koenig
- Jamel Chelly
- Mathieu Anheim
- French Parkinson\textquoterights
- Movement Disorders Consortium
JAMA neurology ; Volume: 75 ; Page: 1234--1245
Article in a journal
Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy
- Suzie Buono
- Jacob Ross
- Hichem Tasfaout
- Yotam Levy
- Christine Kretz
- Leighla Tayefeh
- John Matson
- Shuling Guo
- Pascal Kessler
- Brett Monia
- Marc Bitoun
- Julien Ochala
- Jocelyn Laporte
- Belinda Cowling
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 115 ; Page: 11066-11071
Article in a journal
Targeting Acidic Mammalian chitinase Is Effective in Animal Model of Asthma
- Marzena Mazur
- Jacek Olczak
- Sylwia Olejniczak
- Robret Koralewski
- Wocjiech Czestkowski
- Anna Jedrzejczak
- Jakub Golab
- Karolina Dzwonek
- Barbara Dymek
- Piotr Sklepkiewicz
- Agnieszka Zagozdzon
- Tom Noonan
- Keyvan Mahboubi
- Bruce Conway
- Ryan Sheeler
- Paul Beckett
- William Hungerford
- Alberto Podjarny
- André Mitschler
- Alexandra Cousido-Siah
- ...
Journal of Medicinal Chemistry ; Volume: 61 ; Page: 695-710
Article in a journal
TRIM24 mediates the interaction of the retinoic acid receptor alpha with the proteasome
- Marilyn Carrier
- Régis Lutzing
- Samia Gaouar
- Céline Rochette-Egly
FEBS Letters ; Volume: 592 ; Page: 1426-1433
Article in a journal
RORalpha-expressing T regulatory cells restrain allergic skin inflammation
- Nidhi Malhotra
- Juan Manuel Leyva-Castillo
- Unmesh Jadhav
- Olga Barreiro
- Christy Kam
- Nicholas O'Neill
- Françoise Meylan
- Pierre Chambon
- Ulrich von Andrian
- Richard Siegel
- Eddie Wang
- Ramesh Shivdasani
- Raif Geha
Science Immunology ; Volume: 3
Article in a journal
Terminal exon characterization with TECtool reveals an abundance of cell-specific isoforms
- Andreas Gruber
- Foivos Gypas
- Andrea Riba
- Ralf Schmidt
- Mihaela Zavolan
Nature Methods ; Volume: 15 ; Page: 832-836
Article in a journal
Control of the transfection efficiency of human dermal fibroblasts by adjusting the characteristics of jetPEI®/plasmid complexes/polyplexes through the cation/anion ratio
- Yulia N Sergeeva
- Laura Jung
- Claire Weill
- Patrick Erbacher
- Philippe Tropel
- Olivier Felix
- Stéphane Viville
- Gero Decher
Colloids and Surfaces A: Physicochemical and Engineering Aspects ; Volume: 550 ; Page: 193-198