Publications scientifiques
Les équipes de recherches de l'IGBMC publient régulièrement des articles qui font avancer les connaissances dans divers domaines de recherche. Vous trouverez sur cette page l'ensemble des publications dans lesquels les travaux de nos scientifiques sont cités.
Publications
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2018
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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
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Global data and local action for wellbeing science: when 4P-medicine meets health self-assessment
- Pierre Parrend
- Arnaud Kress
- Eric-André Sauleau
- Anne Jeannin-Girardon
- Florent Colin
- Jean-Louis Mandel
- Pierre Collet
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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
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Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome
- G. Iacono
- A. Dubos
- H. Meziane
- M. Benevento
- E. Habibi
- A. Mandoli
- F. Riet
- M. Selloum
- Robert Feil
- H. Zhou
- T. Kleefstra
- N. N. Kasri
- H. Van Bokhoven
- Y. Herault
- H. G. Stunnenberg
Nucleic Acids Research ; Volume: 46 ; Page: 4950–4965
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HOPE: Emergent solutions for analysis and management of patient cohort data
- Arnaud Kress
- Eric-André Sauleau
- Anne Jeannin-Girardon
- Florent Colin
- Jean-Louis Mandel
- Pierre Collet
- Pierre Parrend
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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
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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
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GENIDA, an international participative cohort study on genetic forms of intellectual disability and autism spectrum disorders: Analyses of Koolen-deVries, Kleefstra, KBG and MECP2 duplications syndromes
- Florent Colin
- Timothée Mazzucotelli
- David A. Koolen
- Tjitske Kleefstra
- Hilde van Esch
- Charlotte W. Ockeloen
- Pierre Parrend
- Jean-Louis Mandel
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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
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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
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