Publications
2016
Article in a journal
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
- Gina L. O’grady
- Heather A. Best
- Tamar E. Sztal
- Vanessa Schartner
- Myriam Sanjuan-Vazquez
- Sandra Donkervoort
- Osorio Abath Neto
- Roger Bryan Sutton
- Biljana Ilkovski
- Norma Beatriz Romero
- Tanya Stojkovic
- Jahannaz Dastgir
- Leigh B. Waddell
- Anne Boland
- Ying Hu
- Caitlin Williams
- Avnika A. Ruparelia
- Thierry Maisonobe
- Anthony J. Peduto
- Stephen W. Reddel
- ...
American Journal of Human Genetics ; Volume: 99 ; Page: 1086-1105
Article in a journal
The molecular and phenotypic spectrum of IQSEC2 -related epilepsy
- Ayelet Zerem
- Kazuhiro Haginoya
- Dorit Lev
- Lubov Blumkin
- Sara Kivity
- Ilan Linder
- Cheryl Shoubridge
- Elizabeth Emma Palmer
- Michael Field
- Jackie Boyle
- David Chitayat
- William Gaillard
- Eric Kossoff
- Marjolaine Willems
- David Geneviève
- Frédéric Tran-Mau-Them
- Orna Epstein
- Eli Heyman
- Sarah Dugan
- Alice Masurel-Paulet
- ...
Epilepsia ; Volume: 57 ; Page: 1858 - 1869
Article in a journal
Asymmetrical Functional Deficits of ON and OFF Retinal Processing in the mdx 3Cv Mouse Model of Duchenne Muscular Dystrophy
- Tina I. Tsai
- Mirella Telles Salgueiro Barboni
- Balázs Vince Nagy
- Michel Roux
- Alvaro Rendon
- Dora Fix Ventura
- Jan Kremers
Investigative Ophthalmology & Visual Science ; Volume: 57 ; Page: 5788
Article in a journal
Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability
- Hamid Meziane
- Malik Khelfaoui
- Noemi Morello
- Bassem Hiba
- Eleonora Calcagno
- Sophie Reibel-Foisset
- Mohammed Selloum
- Jamel Chelly
- Yann Humeau
- Fabrice Riet
- Ginevra Zanni
- Yann Hérault
- Thierry Bienvenu
- Maurizio Giustetto
- Pierre Billuart
Human Molecular Genetics ; Volume: 25 ; Page: 2314-2323
Article in a journal
IDD388 Polyhalogenated Derivatives as Probes for an Improved Structure-Based Selectivity of AKR1B10 Inhibitors
- Alexandra Cousido-Siah
- Francesc Xavier Ruiz Figueras
- Jindřich Fanfrlík
- Joan Giménez-Dejoz
- André Mitschler
- Martin Kamlar
- Jan Veselý
- Haresh Ajani
- Xavier Parés
- Jaume Farrés
- Pavel Hobza
- Alberto D. Podjarny
ACS Chemical Biology ; Volume: 11 ; Page: 2693-2705
Article in a journal
Importance of environmental stiffness for megakaryocyte differentiation and proplatelet formation
- Alicia Aguilar
- Fabien Pertuy
- Anita Eckly-Michel
- Catherine Strassel-Risser
- Dominique Collin
- Christian Gachet
- Francois Lanza
- Catherine Leon
Blood ; Volume: 128 ; Page: 2022-2032
Article in a journal
Lsd1 Ablation Triggers Metabolic Reprogramming of Brown Adipose Tissue
- Delphine Duteil
- Milica Tosic
- Franziska Lausecker
- Hatice Z. Nenseth
- Judith M. Müller
- Sylvia Urban
- Dominica Willmann
- Kerstin Petroll
- Nadia Messaddeq
- Laura Arrigoni
- Thomas Manke
- Jan-Wilhelm Kornfeld
- Jens C. Bruning
- Vyacheslav Zagoriy
- Michael Meret
- Jörn Dengjel
- Toufike Kanouni
- Roland Schüle
Cell Reports ; Volume: 17 ; Page: 1008-1021
Article in a journal
The Glide/Gcm fate determinant controls initiation of collective cell migration by regulating Frazzled
- Tripti Gupta
- Arun Kumar
- Pierre Cattenoz
- K Vijayraghavan
- Angela Giangrande
eLife ; Volume: 5
Article in a journal
Lurbinectedin Specifically Triggers the Degradation of Phosphorylated RNA Polymerase II and the Formation of DNA Breaks in Cancer Cells
- Gema Santamaría Nuñez
- Carlos Mario Genes Robles
- Christophe Giraudon
- Juan Fernando Martínez-Leal
- Emmanuel Compe
- Frédéric Coin
- Pablo Aviles
- Carlos María Galmarini
- Jean-Marc Egly
Molecular Cancer Therapeutics ; Volume: 15 ; Page: 2399-2412
Article in a journal
Online ion-exchange chromatography for small-angle X-ray scattering
- Stephanie Hutin
- Martha Brennich
- Benoit Maillot
- Adam Round
Acta crystallographica Section D : Structural biology [1993-...] ; Volume: 72 ; Page: 1090-1099