Scientific publications
Publications
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2020
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The Cockayne syndrome group A and B proteins are part of a ubiquitin–proteasome degradation complex regulating cell division
- Elena Paccosi
- Federico Costanzo
- Michele Costantino
- Alessio Balzerano
- Laura Monteonofrio
- Silvia Soddu
- Giorgio Prantera
- Stefano Brancorsini
- Jean-Marc Egly
- Luca Proietti-De-Santis
Proceedings of the National Academy of Sciences of the United States of America ; Volume: 117 ; Page: 30498-30508
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TBPL2/TFIIA complex establishes the maternal transcriptome through oocyte-specific promoter usage
- Changwei Yu
- Nevena Cvetesic
- Vincent Hisler
- Kapil Gupta
- Tao Ye
- Emese Gazdag
- Luc Negroni
- Petra Hajkova
- Imre Berger
- Boris Lenhard
- Ferenc Müller
- Stéphane D Vincent
- László Tora
Nature Communications ; Volume: 11 ; Page: 6439
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TBPL2/TFIIA complex establishes the maternal transcriptome through oocyte-specific promoter usage
- Changwei Yu
- Nevena Cvetesic
- Vincent Hisler
- Kapil Gupta
- Tao Ye
- Emese Gazdag
- Luc Negroni
- Petra Hajkova
- Imre Berger
- Boris Lenhard
- Ferenc Müller
- Stéphane Vincent
- Làszlo Tora
Nature Communications ; Volume: 11 ; Page: 6439
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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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