Scientific publications
Publications
2024
Article in a journal
Loss of Sult1a1 reduces body weight and increases browning of white adipose tissue
- Margherita Springer
- Emmanuelle Meugnier
- Katharina Schnabl
- Kevin Sebastiaan Hof
- Marie-France Champy
- Tania Sorg
- Benoit Petit-Demoulière
- Natacha Germain
- Bogdan Galusca
- Bruno Estour
- Hubert Vidal
- Martin Klingenspor
- Jörg Hager
Frontiers in Endocrinology ; Volume: 15 ; Page: 1448107
Article in a journal
Changes in AXL and/or MITF melanoma subpopulations in patients receiving immunotherapy
- M. Willemsen
- J. Bulgarelli
- S.K. Chauhan
- R.R. Lereim
- D. Angeli
- G. Grisendi
- G. Krebbers
- I. Davidson
- J.A. Kyte
- M. Guidoboni
- Rosalie M Luiten
- W.J. Bakker
Immuno-Oncology and Technology ; Volume: 24 ; Page: 101009
Article in a journal
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons
- Aurélien Perrin
- Rocio Garcia-Uzquiano
- Tanya Stojkovic
- Céline Tard
- Corinne Metay
- Anne Bergougnoux
- Charles van Goethem
- Corinne Thèze
- Marion Larrieux
- Héloise Faure-Gautron
- Jocelyn Laporte
- Guillaume Lefebvre
- Martin Krahn
- Raul Juntas-Morales
- Michel Koenig
- Susana Quijano-Roy
- Robert-Yves Carlier
- Mireille Cossée
International Journal of Molecular Sciences ; Volume: 25 ; Page: 12994
Article in a journal
Ocular manifestations in Koolen–de Vries syndrome: an international study
- Dafna Shalev
- David Koolen
- Bert B.A. de Vries
- Sharon Blum Meirovitch
- Jean-Louis Mandel
- Pauline Burger
- Alik Rosenfeld
- Guy Ben Simon
- Daphna Landau Prat
Canadian Journal of Ophthalmology ; Volume: 59 ; Page: e796-e802
Article in a journal
Potential compensatory mechanisms preserving cardiac function in myotubular myopathy
- Alix Simon
- Nadege Diedhiou
- David Reiss
- Marie Goret
- Erwan Grandgirard
- Jocelyn Laporte
Cellular and Molecular Life Sciences ; Volume: 81 ; Page: 476
Article in a journal
Microstructure of the cerebellum and its afferent pathways underpins dystonia in myoclonus dystonia
- Clément Tarrano
- Giuseppe Zito
- Cécile Galléa
- Cécile Delorme
- Eavan M Mcgovern
- Cyril Atkinson‐clement
- Vanessa Brochard
- Stéphane Thobois
- Christine Tranchant
- David Grabli
- Bertrand Degos
- Jean Christophe Corvol
- Jean‐michel Pedespan
- Pierre Krystkowiak
- Jean‐luc Houeto
- Adrian Degardin
- Luc Defebvre
- Mélanie Didier
- Romain Valabrègue
- Emmanuelle Apartis
- ...
European Journal of Neurology ; Volume: 31 ; Page: e16460
Article in a journal
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes
- Tanja Zdolšek Draksler
- Arianne Bouman
- Alenka Guček
- Erik Novak
- Pauline Burger
- Florent Colin
- Tjitske Kleefstra
European Journal of Medical Genetics ; Volume: 72 ; Page: 104974
Article in a journal
Molecular basis of mRNA delivery to the bacterial ribosome
- Michael Webster
- Adrien Chauvier
- Huma Rahil
- Andrea Graziadei
- Kristine Charles
- Nataliya Miropolskaya
- Maria Takacs
- Charlotte Saint-André
- Juri Rappsilber
- Nils Walter
- Albert Weixlbaumer
Science ; Volume: 386
Article in a journal
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome
- Efil Bayam
- Peggy Tilly
- Stephan Collins
- José Rivera Alvarez
- Meghna Kannan
- Lucile Tonneau
- Elena Brivio
- Bruno Rinaldi
- Romain Lecat
- Noémie Schwaller
- Ludovica Cotellessa
- Sateesh Maddirevula
- Fabiola Monteiro
- Carlos Guardia
- João Paulo Kitajima
- Fernando Kok
- Mitsuhiro Kato
- Ahlam Hamed
- Mustafa Salih
- Saeed Al Tala
- ...
EMBO Molecular Medicine ; Volume: 17 ; Page: 129-168
Article in a journal
MODOMICS: a database of RNA modifications and related information. 2023 update
- Andrea Cappannini
- Angana Ray
- Elżbieta Purta
- Sunandan Mukherjee
- Pietro Boccaletto
- S Naeim Moafinejad
- Antony Lechner
- Charles Barchet
- Bruno P. Klaholz
- Filip Stefaniak
- Janusz M Bujnicki
Nucleic Acids Research ; Volume: 52 ; Page: D239 - D244