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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2024
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Ocular manifestations in Koolen–de Vries syndrome: an international study
- Dafna Shalev
- David Koolen
- Bert B.A. de Vries
- Sharon Blum Meirovitch
- Jean-Louis Mandel
- Pauline Burger
- Alik Rosenfeld
- Guy Ben Simon
- Daphna Landau Prat
Canadian Journal of Ophthalmology ; Volume: 59 ; Page: e796-e802
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Potential compensatory mechanisms preserving cardiac function in myotubular myopathy
- Alix Simon
- Nadege Diedhiou
- David Reiss
- Marie Goret
- Erwan Grandgirard
- Jocelyn Laporte
Cellular and Molecular Life Sciences ; Volume: 81 ; Page: 476
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Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes
- Tanja Zdolšek Draksler
- Arianne Bouman
- Alenka Guček
- Erik Novak
- Pauline Burger
- Florent Colin
- Tjitske Kleefstra
European Journal of Medical Genetics ; Volume: 72 ; Page: 104974
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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
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Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
- Efil Bayam
- Peggy Tilly
- Stephan Collins
- José Rivera Alvarez
- Meghna Kannan
- Lucile Tonneau
- Elena Brivio
- Bruno Rinaldi
- Romain Lecat
- Noémie Schwaller
- Ludovica Cotellessa
- Sateesh Maddirevula
- Fabiola Monteiro
- Carlos Guardia
- João Paulo Kitajima
- Fernando Kok
- Mitsuhiro Kato
- Ahlam Hamed
- Mustafa Salih
- Saeed Al Tala
- ...
EMBO Molecular Medicine ; Volume: 17 ; Page: 129-168
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MODOMICS: a database of RNA modifications and related information. 2023 update
- Andrea Cappannini
- Angana Ray
- Elżbieta Purta
- Sunandan Mukherjee
- Pietro Boccaletto
- S Naeim Moafinejad
- Antony Lechner
- Charles Barchet
- Bruno P. Klaholz
- Filip Stefaniak
- Janusz M Bujnicki
Nucleic Acids Research ; Volume: 52 ; Page: D239 - D244
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Remodelling of Rea1 linker domain drives the removal of assembly factors from pre-ribosomal particles
- Johan Busselez
- Geraldine Koenig
- Carine Dominique
- Torben Klos
- Deepika Velayudhan
- Piotr Sosnowski
- Nils Marechal
- Corinne Crucifix
- Hugo Gizardin-Fredon
- Sarah Cianferani
- Benjamin Albert
- Yves Henry
- Anthony K Henras
- Helgo Schmidt
Nature Communications ; Volume: 15 ; Page: 10309
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HIV-1 budding requires cortical actin disassembly by the oxidoreductase MICAL1
- Thomas Serrano
- Nicoletta Casartelli
- Foad Ghasemi
- Hugo Wioland
- Frédérique Cuvelier
- Audrey Salles
- Maryse Moya-Nilges
- Lisa Welker
- Serena Bernacchi
- Marc Ruff
- Antoine Jégou
- Guillaume Romet-Lemonne
- Olivier Schwartz
- Stéphane Frémont
- Arnaud Echard
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 121 ; Page: 112744
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Evolutionary conservation of the Gcm/Glide cascade: of glia and beyond
- Sara Monticelli
- Angela Giangrande
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Le tamoxifène, une molécule à fort potentiel thérapeutique pour toutes les myopathies centronucléaires, Tamoxifen, a high-potential molecule to treat all centronuclear myopathies
- Charlotte Gineste
- Jocelyn Laporte
Médecine/Sciences ; Volume: 40 ; Page: 34-39
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