
Scientific publications
Publications
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2016
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A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
- Paul Masurel-Paulet
- Amélie Piton
- Sophie Chancenotte
- Claire Redin
- Christel Thauvin-Robinet
- Yvan Henrenger
- Delphine Minot
- Audrey Creppy
- Marie Ruffier-Bourdet
- Julien Thévenon
- Paul Kuentz
- Daphne Lehalle
- Aurore Curie
- Gaëlle Blanchard
- Ezzat Ghosn
- Marlène Bonnet
- Mélanie Archimbaud-Devilliers
- Frédéric Huet
- Odile Perret
- Nicole Philip
- ...
American Journal of Medical Genetics Part A ; Volume: 170 ; Page: 2103 - 2110
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FACT Assists Base Excision Repair by Boosting the Remodeling Activity of RSC
- John Lalith Charles Richard
- Manu Shubhdarshan Shukla
- Hervé Menoni
- Khalid Ouararhni
- Imtiaz Nisar Lone
- Yohan Roulland
- Christophe Papin
- Elsa Ben Simon
- Tapas Kundu
- Ali Hamiche
- Dimitar Angelov
- Stefan Dimitrov
PLoS Genetics ; Volume: 12 ; Page: e1006221
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Reversal of Pathologic Lipid Accumulation in NPC1-Deficient Neurons by Drug-Promoted Release of LAMP1-Coated Lamellar Inclusions.
- Valerie Demais
- Amélie Barthélémy
- Martine Perraut
- Nicole Ungerer
- Céline Keime
- Sophie Reibel Foisset
- Frank Pfrieger
Journal of Neuroscience ; Volume: 36
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In Situ Metabolism of Cinnamyl Alcohol in Reconstructed Human Epidermis: New Insights into the Activation of This Fragrance Skin Sensitizer
- Éric Moss
- Camille Debeuckelaere
- Valerie Berl
- Karim El Bayed
- Francois-Marie Moussallieh
- Izzie-Jacques Namer
- Jean-Pierre Lepoittevin
Chemical Research in Toxicology ; Volume: 29 ; Page: 1172-1178
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Structure of the initiation-competent RNA polymerase I and its implication for transcription
- Michael Pilsl
- Corinne Crucifix
- Gabor Papai
- Ferdinand Krupp
- Robert Steinbauer
- Joachim Griesenbeck
- Philipp Milkereit
- Herbert Tschochner
- Patrick Schultz
Nature Communications ; Volume: 7 ; Page: 12126
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C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy
- Camille Corbier
- Chantal Sellier
Small GTPases ; Volume: 8 ; Page: 181-186
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PSSweb: protein structural statistics web server
- Thomas Gaillard
- Roland H Stote
- Annick Dejaegere
Nucleic Acids Research ; Volume: 44 ; Page: W401 - W405
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Tautomers of a Fluorescent G Surrogate and Their Distinct Photophysics Provide Additional Information Channels
- Marianna Sholokh
- Roberto Improta
- Mattia Mori
- Rajhans Sharma
- Cyril Kenfack
- Dongwon Shin
- Karine Voltz
- Roland Stote
- Olga A. Zaporozhets
- Maurizio Botta
- Yitzhak Tor
- Yves Mély
Angewandte Chemie International Edition ; Volume: 55 ; Page: 7974-8
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Transcription factor TLX1 controls retinoic acid signaling to ensure spleen development
- Elisa Lenti
- Diego Farinello
- Kazunari Yokoyama
- Dmitry Penkov
- Laura Castagnaro
- Giovanni Lavorgna
- Kenly Wuputra
- Lisa Sandell
- Naomi Tjaden
- Francesca Bernassola
- Nicoletta Caridi
- Anna de Antoni
- Michael Wagner
- Katja Kozinc
- Karen Niederreither
- Francesco Blasi
- Diego Pasini
- Gregor Majdic
- Giovanni Tonon
- Paul Trainor
- ...
Journal of Clinical Investigation ; Volume: 126 ; Page: 2452-2464
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Still and rotating myosin clusters determine cytokinetic ring constriction
- Viktoria Wollrab
- Raghavan Thiagarajan
- Anne Wald
- Karsten Kruse
- Daniel Riveline
Nature Communications ; Volume: 7
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