Publications
2022
Article in a journal
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
- Marcello Scala
- Nathalie Drouot
- Suzanna C. Maclennan
- Marja W. Wessels
- Magdalena Krygier
- Lisa Pavinato
- Aida Telegrafi
- Stella A. de Man
- Marjon van Slegtenhorst
- Michele Iacomino
- Francesca Madia
- Paolo Scudieri
- Paolo Uva
- Thea Giacomini
- Giulia Nobile
- Maria Margherita Mancardi
- Ganna Balagura
- Giovanni Battista Galloni
- Alberto Verrotti
- Muhammad Umair
- ...
Human Mutation ; Volume: 43 ; Page: 1299-1313
Article in a journal
New hallmarks of ageing: a 2022 Copenhagen ageing meeting summary
- Tomas Schmauck-Medina
- Adrian Molière
- Sofie Lautrup
- Jianying Zhang
- Stefan Chlopicki
- Helena Borland Madsen
- Shuqin Cao
- Casper Soendenbroe
- Els Mansell
- Mark Bitsch Vestergaard
- Zhiquan Li
- Yosef Shiloh
- Patricia L. Opresko
- Jean-Marc Egly
- Thomas Kirkwood
- Eric Verdin
- Vilhelm A. Bohr
- Lynne S. Cox
- Tinna Stevnsner
- Lene Juel Rasmussen
- ...
Aging ; Volume: 14 ; Page: 6829-6839
Article in a journal
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA
- Romain Coutelle
- Morgane Boedec
- Karlijn Vermeulen
- Joost Kummeling
- David A. Koolen
- Tjitske Kleefstra
- Camille Fournier
- Florent Colin
- Axelle Strehle
- David Geneviève
- Pauline Burger
- Jean-Louis Mandel
BMC Psychiatry ; Volume: 22
Article in a journal
Personality Assessment with Temperament and Character Inventory in Parkinson's Disease.
- Mathilde Boussac
- Christophe Arbus
- Olivier Colin
- Chloé Laurencin
- Alexandre Eusebio
- Elodie Hainque
- Jean Christophe Corvol
- Nathalie Versace
- Olivier Rascol
- Vanessa Rousseau
- Estelle Harroch
- Fabienne Ory-Magne
- Margherita Fabbri
- Caroline Moreau
- Anne-Sophie Rolland
- Béchir Jarraya
- David Maltête
- Sophie Drapier
- Ana-Raquel Marques
- Nicolas Auzou
- ...
Parkinsonism & Related Disorders ; Volume: 103 ; Page: 34--41
Article in a journal
DetecDiv, a generalist deep-learning platform for automated cell division tracking and survival analysis
- Théo Aspert
- Didier Hentsch
- Gilles Charvin
eLife ; Volume: 11
Article in a journal
Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model
- Qifei Li
- Jasmine Lin
- Jeffrey J. Widrick
- Shiyu Luo
- Gu Li
- Yuanfan Zhang
- Jocelyn Laporte
- Mark A. Perrella
- Xiaoli Liu
- Pankaj B. Agrawal
JCI Insight ; Volume: 7
Pre-publication, Working Document » Preprint/Prepublication
Design and in vitro characterization of RXR variants as tools to investigate the biological role of endogenous rexinoids
- Albane E Le Maire
- Martial Rey
- Valérie Vivat
- Laura Guée
- Pauline Blanc
- Christian Malosse
- Julia Chamot-Rooke
- Pierre Germain
- William Bourguet
Page: 377-390
Article in a journal
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease
- Julia Viard
- Yann Loe-Mie
- Rachel Daudin
- Malik Khelfaoui
- Christine Plancon
- Anne Boland
- Francisco Tejedor
- Richard L. Huganir
- Eunjoon Kim
- Makoto Kinoshita
- Guofa Liu
- Volker Haucke
- Thomas Moncion
- Eugene Yu
- Valérie Hindie
- Henri Bléhaut
- Clotilde Mircher
- Yann Hérault
- Jean-François Deleuze
- Jean-Christophe Rain
- ...
Life Science Alliance ; Volume: 5
Article in a journal
Why serology just is not enough: Strategic parvovirus risk assessment using a novel qPCR assay
- Ann-Kathrin Iwantschenko
- Florian Roegener
- Wiebke Garrels
- Martina Dorsch
- Wiebke Köhl
- Christian Riehle
- Norbert B Ghyselinck
- Betty Féret
- Nils-Holger Zschemisch
- André Bleich
- Stephanie Buchheister
Laboratory Animals ; Volume: 56 ; Page: 380-395
Article in a journal
Vitamin D Analogs Bearing C-20 Modifications Stabilize the Agonistic Conformation of Non-Responsive Vitamin D Receptor Variants
- Anna Belorusova
- Daniela Rovito
- Yassmine Chebaro
- Stefanie Doms
- Lieve Verlinden
- Annemieke Verstuyf
- Daniel Metzger
- Natacha Rochel
- Gilles Laverny
International Journal of Molecular Sciences ; Volume: 23 ; Page: 8445