Publications scientifiques
Les chercheurs de l’IGBMC publient régulièrement leurs découvertes dans des revues scientifiques, reflet du dynamisme de notre institut.
Découvrez ici leurs dernières publications.
Publications
2024
Article dans une revue
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 dans une revue » Article de synthèse
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 dans une revue
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 dans une revue
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 dans une revue
How much do we know about the function of mammalian genes?
- Lydia Teboul
- Yann Hérault
- Sara Wells
- Guillaume Pavlovic
BMC Biology ; Volume: 21
Pré-publication, Document de travail
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 dans une revue
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 dans une revue
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 dans une revue
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 dans une revue
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