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
2019
Article dans une revue
Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors
- Samantha Carrillo-Rosas
- Chantal Weber
- Lorraine Fievet
- Nadia Messaddeq
- Alice Karam
- Yvon Trottier
Human Molecular Genetics ; Volume: 28 ; Page: 912-927
Article dans une revue
Backbone and side chain NMR assignments for the ribosome binding factor A (RbfA) from Staphylococcus aureus
- Dmitriy Blokhin
- Aydar Bikmullin
- Liliya Nurullina
- Natalia Garaeva
- Shamil Validov
- Vladimir Klochkov
- Albert Aganov
- Iskander Khusainov
- Marat Yusupov
- Konstantin Usachev
Biomolecular NMR Assignments ; Volume: 13 ; Page: 27-30
Article dans une revue
High-Quality Data of Protein/Peptide Interaction by Isothermal Titration Calorimetry
- Juan Ramirez
- Yves Nominé
Methods in Molecular Biology ; Volume: 1964 ; Page: 99-117
Article dans une revue
Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies
- M Synofzik
- Hélène Puccio
- F Mochel
- L Schols
Neuron ; Volume: 101 ; Page: 560-583
Article dans une revue
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
- Johann Böhm
- Edoardo Malfatti
- Emily Oates
- Kristi Jones
- Guy Brochier
- Anne Boland
- Jean-François Deleuze
- Norma Beatriz Romero
- Jocelyn Laporte
Journal of Medical Genetics ; Volume: 56 ; Page: 617-621
Article dans une revue
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
- K Nixon
- J Rousseau
- M Stone
- M Sarikahya
- S Ehresmann
- S Mizuno
- N Matsumoto
- N Miyake
- D Baralle
- S Mckee
- K Izumi
- A Ritter
- S Heide
- D Heron
- Christel Depienne
- H Titheradge
- J Kramer
- P Campeau
American Journal of Human Genetics ; Volume: 104 ; Page: 596-610
Article dans une revue
Abnormal lipid storage related to adipocyte shrinkage in acquired partial lipodystrophy (Barraquer-Simons syndrome)
- Charles Velter
- Nadia Messaddeq
- E Levy
- C Morruzzi
- Bernard Cribier
- Nassim Dali-Youcef
- Dan Lipsker
Journal of the European Academy of Dermatology and Venereology ; Volume: 33 ; Page: 2188-2191
Article dans une revue
Solution structure of the N-terminal domain of the Staphylococcus aureus hibernation promoting factor
- Konstantin Usachev
- Shamil Validov
- Iskander Khusainov
- Alexander Varfolomeev
- Vladimir Klochkov
- Albert Aganov
- Marat Yusupov
Journal of Biomolecular NMR ; Volume: 73 ; Page: 223-227
Article dans une revue
Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder
- Regis Lopez
- Francois Rivier
- Jamel Chelly
- Yves Dauvilliers
Annals of Clinical and Translational Neurology ; Volume: 6 ; Page: 1900-1904
Article dans une revue
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions
- Thomas Arbogast
- Parisa Razaz
- Jacob Ellegood
- Spencer Mckinstry
- Serkan Erdin
- Benjamin Currall
- Tanya Aneichyk
- Jason Lerch
- Lily Qiu
- Ramona Rodriguiz
- R Henkelman
- Michael Talkowski
- William Wetsel
- Christelle Golzio
- Nicholas Katsanis
Human Molecular Genetics ; Volume: 28 ; Page: 1474-1486