Scientific publications
Publications
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2023
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A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest
- Ozlem Okutman
- Manon Boivin
- Jean Muller
- Nicolas Charlet-Berguerand
- Stephane Viville
Human Reproduction ; Volume: 38 ; Page: 306-314
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Early Neurobehavioral Characterization of the CD Mouse Model of Williams–Beuren Syndrome
- Silvia Giannoccaro
- Celeste Ferraguto
- Valeria Petroni
- Coline Marcelly
- Xavier Nogues
- Victoria Campuzano
- Susanna Pietropaolo
Cells ; Volume: 12 ; Page: 391
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Nucleosome dyad determines the H1 C-terminus collapse on distinct DNA arms
- Jaime Alegrio Louro
- Ramachandran Boopathi
- Brice Beinsteiner
- Abdul Kareem Mohideen Patel
- Tat Cheung Cheng
- Dimitar Angelov
- Ali Hamiche
- Jan Bendar
- Seyit Kale
- Bruno P. Klaholz
- Stefan Dimitrov
Structure ; Volume: 31 ; Page: 201-212.e5
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Treatment of HCC with claudin-1-specific antibodies suppresses carcinogenic signaling and reprograms the tumor microenvironment
- Natascha Roehlen
- Marion Muller
- Zeina Nehme
- Emilie Crouchet
- Frank Jühling
- Fabio del Zompo
- Sara Cherradi
- François Ht Duong
- Nuno Almeida
- Antonio Saviano
- Mirian Fernández-Vaquero
- Tobias Riedl
- Houssein El Saghire
- Sarah C. Durand
- Clara Ponsolles
- Marine Oudot
- Romain Martin
- Nicolas Brignon
- Emanuele Felli
- Patrick Pessaux
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Journal of Hepatology ; Volume: 78 ; Page: 343-355
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Therapeutic approaches in different congenital myopathies
- Charlotte Gineste
- Jocelyn Laporte
Current Opinion in Pharmacology ; Volume: 68 ; Page: 102328
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The spectrum of functional tic-like behaviours: Data from an international registry
- Davide Martino
- Tammy Hedderly
- Tara Murphy
- Kirsten R. Müller-Vahl
- Russell C. Dale
- Donald L. Gilbert
- Renata Rizzo
- Andreas Hartmann
- Peter Nagy
- Mathieu Anheim
- Tamsin Owen
- Osman Malik
- Morvwen Duncan
- Isobel Heyman
- Holan Liang
- Andrew Mcwilliams
- Shauna O'Dwyer
- Carolin Fremer
- Natalia Szejko
- Velda X. Han
- ...
European Journal of Neurology ; Volume: 30 ; Page: 334-343
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Synergistic activation of RARβ and RARγ nuclear receptors restores cell specialization during stem cell differentiation by hijacking RARα-controlled programs
- Aysis Koshy
- Elodie Mathieux
- François Stüder
- Aude Bramoulle
- Michele Lieb
- Bruno Maria Colombo
- Hinrich Gronemeyer
- Marco Antonio Mendoza Parra
Life Science Alliance ; Volume: 6
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Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions
- Philip Harrer
- Audrey Schalk
- Masaru Shimura
- Sarah Baer
- Nadege Calmels
- Marie Aude Spitz
- Marie-Thérèse Abi Warde
- Elise Schaefer
- Volker M. Sc Kittke
- Yasemin Dincer
- Matias Wagner
- Ivana Dzinovic
- Riccardo Berutti
- Tatsuharu Sato
- Toshihiko Shirakawa
- Yasushi Okazaki
- Kei Murayama
- Konrad Oexle
- Holger Prokisch
- Volker Mall
- ...
Annals of Neurology ; Volume: 93 ; Page: 330-335
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Gut microbiota remodeling and intestinal adaptation to lipid malabsorption after enteroendocrine cell loss in adult mice
- Florence Blot
- Justine Marchix
- Miriam Ejarque
- Sara Jimenez
- Aline Meunier
- Céline Keime
- Camille Trottier
- Mikaël Croyal
- Céline Lapp
- Maxime Mahe
- Adèle de Arcangelis
- Gérard Gradwohl
Cellular and Molecular Gastroenterology and Hepatology
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The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance
- Mira Brazane
- Dilyana Dimitrova
- Julien Pigeon
- Chiara Paolantoni
- Tao Ye
- Virginie Marchand
- Bruno da Silva
- Elise Schaefer
- Margarita Angelova
- Zornitza Stark
- Martin Delatycki
- Tracy Dudding-Byth
- Jozef Gecz
- Pierre-Yves Plaçais
- Laure Teysset
- Thomas Préat
- Amélie Piton
- Bassem Hassan
- Jean-Yves Roignant
- Yuri Motorin
- ...
Life Science Alliance ; Volume: 6 ; Page: e202201877
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