Publications
2024
Article in a journal
First Sila-Vitamin D Analogues: Design, Synthesis, Structural Analysis and Biological Activity
- Julian Loureiro
- Samuel Seoane
- Ivo Sampaio-Dias
- Carole Peluso-Iltis
- Thierry Guiberteau
- Beatriz Brito
- Carlos Gregorio
- Román Pérez-Fernández
- Natacha Rochel
- Antonio Mouriño
- José Rodríguez-Borges
Journal of Medicinal Chemistry ; Volume: 67 ; Page: 21505-21519
Article in a journal » Review article
The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders
- Lizan Stinissen
- Sietse Bouma
- Johann Böhm
- Jeno van Tienen
- Holger Fischer
- Zak Hughes
- Anne Lennox
- Erin Ward
- Marie Wood
- A Reghan Foley
- Wija Oortwijn
- Heinz Jungbluth
- Nicol C Voermans
Neuromuscular Disorders ; Volume: 38 ; Page: 1-7
Article in a journal
Speech and language in DDX3X ‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention
- Elana J Forbes
- Lottie D Morison
- Fatma Lelik
- Tegan Howell
- Simone Debono
- Himanshu Goel
- Pauline Burger
- Jean‐louis Mandel
- David Geneviève
- David J Amor
- Angela T Morgan
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Article in a journal
Prediction of adverse neonatal adaptation in fetuses with severe fetal growth restriction after 34 weeks of gestation
- Célia Ross
- Philippe Deruelle
- Mary Pontvianne
- Lise Lecointre
- Samuel Wieder
- Pierre Kuhn
- Massimo Lodi
European Journal of Obstetrics & Gynecology and Reproductive Biology ; Volume: 296 ; Page: 258 - 264
2023
Article in a journal
How much do we know about the function of mammalian genes?
- Lydia Teboul
- Yann Hérault
- Sara Wells
- Guillaume Pavlovic
BMC Biology ; Volume: 21
Pre-publication, Working Document
Bi-allelic variants in WDR47 lead to neuronal loss causing a rare neurodevelopmental syndrome with corpus callosum dysgenesis in humans
- Efil Bayam
- Peggy Tilly
- Stephan Collins
- José Rivera Alvarez
- Meghna Kannan
- Lucile Tonneau
- Bruno Rinaldi
- Romain Lecat
- Noémie Schwaller
- Sateesh Maddirevula
- Fabiola Monteiro
- João Paulo Kitajima
- Fernando Kok
- Mitsuhiro Kato
- Ahlam Hamed
- Mustafa Salih
- Saeed Al Tala
- Mais Hashem
- Hiroko Tada
- Hirotomo Saitsu
- ...
Article in a journal
Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
- Laura Vanden Brande
- Stéphanie Bauché
- Laura Pérez-Guàrdia
- Damien Sternberg
- Andreea Seferian
- Edoardo Malfatti
- Roberto Silva-Rojas
- Clémence Labasse
- Frédéric Chevessier
- Pierre Carlier
- Bruno Eymard
- Norma Romero
- Jocelyn Laporte
- Laurent Servais
- Teresa Gidaro
- Johann Böhm
Neuropathology and Applied Neurobiology ; Volume: 50
Article in a journal
RlmQ: a newly discovered rRNA modification enzyme bridging RNA modification and virulence traits in Staphylococcus aureus
- Roberto Alexander Bahena Ceron
- Chloé Teixeira
- José Refugio Jaramillo Ponce
- Philippe Wolff
- Florence Couzon
- Pauline François
- Bruno P. Klaholz
- François Vandenesch
- Pascale Romby
- Karen Moreau
- Stefano Marzi
RNA ; Volume: 30 ; Page: 200-212
Article in a journal
Evolution of the Ikaros family transcription factors: From a deuterostome ancestor to humans
- Philippe Kastner
- Adina Aukenova
- Susan Chan
Biochemical and Biophysical Research Communications ; Volume: 694
Article in a journal
Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation
- Ali Tawbeh
- Quentin Raas
- Mounia Tahri-Joutey
- Céline Keime
- Romain Kaiser
- Doriane Trompier
- Boubker Nasser
- Emma Bellanger
- Marie Dessard
- Yannick Hamon
- Alexandre Benani
- Francesca Di Cara
- Tânia Cunha Alves
- Johannes Berger
- Isabelle Weinhofer
- Stéphane Mandard
- Mustapha Cherkaoui-Malki
- Pierre Andreoletti
- Catherine Gondcaille
- Stéphane Savary
Frontiers in Molecular Neuroscience ; Volume: 16 ; Page: 1299314