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
2021
Article dans une revue
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study
- Stacha F. I. Reumers
- Frederik Braun
- Jennifer E. Spillane
- Johann Böhm
- Maartje Pennings
- Meyke Schouten
- Anneke J. van der Kooi
- A. Reghan Foley
- Carsten G. Bonnemann
- Erik-Jan Kamsteeg
- Corrie E. Erasmus
- Ulrike Schara-Schmidt
- Heinz Jungbluth
- Nicol C. Voermans
Neurology ; Volume: 97
Article dans une revue
Mechanistic Illustration: How Newly-Formed Blood Vessels Stopped by the Mineral Blocks of Bone Substitutes Can Be Avoided by Using Innovative Combined Therapeutics
- Fabien Bornert
- François Clauss
- Guoqiang Hua
- Ysia Idoux-Gillet
- Laetitia Keller
- Gabriel Fernandez de Grado
- Damien Offner
- Rana Smaida
- Quentin Wagner
- Florence Fioretti
- Sabine Bopp-Kuchler
- Georg Schulz
- Wolfgang Wenzel
- Luca Gentile
- Laurent Risser
- Bert Müller
- Olivier Huck
- Nadia Benkirane-Jessel
Biomedicines ; Volume: 9 ; Page: 952
Article dans une revue
Introduction to mammalian genome special issue: the microbiome in human health and disease
- Guillaume Pavlovic
- Je Kyung Seong
- George Weinstock
Mammalian Genome ; Volume: 32 ; Page: 205-205
Article dans une revue
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
- Bradley Bowles
- Alejandro Ferrer
- Carla J. Nishimura
- Filippo Pinto E. Vairo
- Tristan Rey
- Bruno Leheup
- Jennifer Sullivan
- Kelly Schoch
- Nicholas Stong
- Emanuele Agolini
- Dario Cocciadiferro
- Abigail Williams
- Alex Cummings
- Sara Loddo
- Silvia Genovese
- Chelsea Roadhouse
- Kirsty Mcwalter
- Chumei Li
- Dusica Babovic-Vuksanovic
- Brendan C. Lanpher
- ...
Am J Med Genet A ; Volume: 185 ; Page: 2417-2433
Article dans une revue
Periodontal (formerly type VIII ) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype
- Salima El Chehadeh
- Anne Legrand
- Corinne Stoetzel
- Véronique Geoffroy
- Clarisse Billon
- Salma Adham
- Xavier Jeunemaître
- Roland Jaussaud
- Jean Muller
- Elise Schaefer
- Karelle Benistan
- Sébastien Gaertner
- Agnès Bloch‐zupan
- Aymeric Courval
- Marie‐cécile Manière
- Catherine Petit
- Anne‐claire Bursztejn
- Laurence Bal
- Anthony Reyre
- Agathe Chammas
- ...
Clinical Genetics ; Volume: 100 ; Page: 206-212
Article dans une revue
A Path to the Atomic-Resolution Structures of Prokaryotic and Eukaryotic Ribosomes
- Gulnara Yusupova
- Marat Yusupov
Биохимия / Biochemistry ; Volume: 86 ; Page: 926-941
Article dans une revue
Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes
- Roberto Silva-Rojas
- Vasugi Nattarayan
- Francisco Jaque-Fernandez
- Raquel Gomez-Oca
- Alexia Menuet
- David Reiss
- Marie Goret
- Nadia Messaddeq
- Valentina M Lionello
- Christine Kretz
- Belinda S Cowling
- Vincent Jacquemond
- Jocelyn Laporte
Molecular Therapy
Article dans une revue
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
- Raul Juntas Morales
- Aurélien Perrin
- Guilhem Solé
- Delphine Lacourt
- Henri Pegeot
- Ulrike Walther-Louvier
- Pascal Cintas
- Claude Cances
- Caroline Espil
- Corinne Theze
- Reda Zenagui
- Kevin Yauy
- Elodie Cosset
- Dimitri Renard
- Valerie Rigau
- Andre Maues de Paula
- Emmanuelle Uro-Coste
- Marie-Christine Arne-Bes
- Marie-Laure Martin Négrier
- Nicolas Leboucq
- ...
Genes ; Volume: 12 ; Page: 1199
Article dans une revue
Single-cell analyses unravel cell type–specific responses to a vitamin D analog in prostatic precancerous lesions
- Mohamed Abu El Maaty
- Elise Grelet
- Céline Keime
- Anna-Isavella Rerra
- Justine Gantzer
- Camille Emprou
- Julie Terzic
- Régis Lutzing
- Jean-Marc Bornert
- Gilles Laverny
- Daniel Metzger
Science Advances ; Volume: 7
Article dans une revue
Detection of Pneumocystis jirovecii in Patients with Severe COVID-19: Diagnostic and Therapeutic Challenges
- Victor Gerber
- Yvon Ruch
- Thiên-Nga Chamaraux-Tran
- Walid Oulehri
- Francis Schneider
- Veronique Lindner
- Valentin Greigert
- Julie Denis
- Julie Brunet
- François Danion
Journal of Fungi ; Volume: 7 ; Page: 585