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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2020
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Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker
- Mathilde Renaud
- Christine Tranchant
- Michel Koenig
- Mathieu Anheim
Movement Disorders ; Volume: 35 ; Page: 2139-2149
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
- Laure Asselin
- José Rivera Alvarez
- Solveig Heide
- Camille Bonnet
- Peggy Tilly
- Hélène Vitet
- Chantal Weber
- Carlos Bacino
- Kristin Baranaño
- Anna Chassevent
- Amy Dameron
- Laurence Faivre
- Neil Hanchard
- Sonal Mahida
- Kirsty Mcwalter
- Cyril Mignot
- Caroline Nava
- Agnès Rastetter
- Haley Streff
- Christel Thauvin-Robinet
- ...
Nature Communications ; Volume: 11
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µgreen-db: a reference database for the 23S rRNA gene of eukaryotic plastids and cyanobacteria
- Christophe Djemiel
- Damien Plassard
- Sébastien Terrat
- Olivier Crouzet
- Joana Sauze
- Samuel Mondy
- Virginie Nowak
- Lisa Wingate
- Jérôme Ogée
- Pierre-Alain Maron
Scientific Reports ; Volume: 10 ; Page: 1-11
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DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.
- A. Bruel
- B. Gerard
- A. Piton
- F. Tran Mau-Them
- A. Sorlin
- A. Sorly
- D. Lacombe
- S. Manouvrier
- P. Edery
- Nicole Philip
- D. Genevieve
- A. Verloes
- S. Odent
- J. Thevenon
- A. Toutain
- D. Bonneau
- S. El Chehadeh
- M. Doco-Fenzy
- B. Isidor
- A. Goldenberg
- ...
European Journal of Human Genetics ; Volume: 28 ; Page: 333-334
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High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models
- Brahim Belbellaa
- Laurence Reutenauer
- Nadia Messaddeq
- Laurent Monassier
- Hélène Puccio
Molecular Therapy - Methods and Clinical Development ; Volume: 19 ; Page: 120-138
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Mechanism of cystathionine-β-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II)
- Karim Zuhra
- Theodora Panagaki
- Elisa Randi
- Fiona Augsburger
- Marc Blondel
- Gaelle Friocourt
- Yann Herault
- Csaba Szabo
Biochemical Pharmacology ; Volume: 182 ; Page: 114267
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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
- Sandra Donkervoort
- Carl E. Kutzner
- Ying Hu
- Xavière Lornage
- John Rendu
- Tanya Stojkovic
- Jonathan Baets
- Sarah B. Neuhaus
- Jantima Tanboon
- Reza Maroofian
- Véronique Bolduc
- Magdalena Mroczek
- Stefan Conijn
- Nancy L. Kuntz
- Ana Töpf
- Soledad Monges
- Fabiana Lubieniecki
- Riley M. Mccarty
- Katherine R. Chao
- Serena Governali
- ...
American Journal of Human Genetics ; Volume: 107 ; Page: 1078-1095
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Dichloromethane Degradation Pathway from Unsequenced Hyphomicrobium sp. MC8b Rapidly Explored by Pan-Proteomics
- Karim Hayoun
- Emilie Geersens
- Cédric C Laczny
- Rashi Halder
- Carmen Lázaro Sánchez
- Abhijit Manna
- Françoise Bringel
- Michaël Ryckelynck
- Paul Wilmes
- Emilie Muller
- Béatrice Alpha-Bazin
- J. Armengaud
- Stéphane Vuilleumier
Microorganisms ; Volume: 8
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An Integrated Analysis of miRNA and Gene Expression Changes in Response to an Obesogenic Diet to Explore the Impact of Transgenerational Supplementation with Omega 3 Fatty Acids
- Karla Fabiola Corral-Jara
- Laura Cantini
- Nathalie Poupin
- Tao Ye
- Jean-Paul Rigaudière
- Sarah de Saint Vincent
- Alexandre Pinel
- Béatrice Morio
- Frédéric Capel
Nutrients ; Volume: 12 ; Page: 3864
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FFAT motif phosphorylation controls formation and lipid transfer function of inter‐organelle contacts
- Thomas Di Mattia
- Arthur Martinet
- Souade Ikhlef
- Alastair G Mcewen
- Yves Nominé
- Corinne Wendling
- Pierre Poussin‐courmontagne
- Laetitia Voilquin
- Pascal Eberling
- Frank Ruffenach
- Jean Cavarelli
- John Slee
- Timothy P Levine
- Guillaume Drin
- Catherine Tomasetto
- Fabien Alpy
EMBO Journal ; Volume: 39
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