Publications
2024
Article in a journal
Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort
- Andrea Gangfuß
- Guido Goj
- Silke Polz
- Adela Della Marina
- Andreas Hentschel
- Katja Ahlbory
- Timo Deba
- Urania Kotzaeridou
- Elisabeth Schuler
- Astrid Pechmann
- Uta Diebold
- Gerhard Kurlemann
- Lucas Heinzkyll
- Dirk Schmitt
- Kevin Rostasy
- Tobias Ruck
- Johann Böhm
- Andreas Roos
- Ulrike Schara-Schmidt
Journal of Neurology ; Volume: 272 ; Page: 63
Article in a journal
No evidence for association between GAA-FGF14 expansion and early onset cerebellar ataxia: a study on 85 undiagnosed patients
- Clarisse Delvallée
- Nadège Calmels
- Thomas Bogdan
- Christine Tranchant
- Mathieu Anheim
- Thomas Wirth
Journal of Neurology ; Volume: 272 ; Page: 32
Article in a journal
Chromatin Compaction Follows a Power Law Scaling with Cell Size from Interphase Through Mitosis
- Petra Stockinger
- Anna Oddone
- Melike Lakadamyali
- Manuel Mendoza
- Jérôme Solon
BioRxiv
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
ATAC and SAGA histone acetyltransferase modules facilitate transcription factor binding to nucleosomes independent of their acetylation activity
- Kristin V Chesnutt
- Gizem Yayli
- Christine Toelzer
- Mylène Damilot
- Khan Cox
- Gunjan Gautam
- Imre Berger
- László Tora
- Michael G Poirier
Nucleic Acids Research ; Volume: 53 ; Page: gkae1120
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
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
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
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
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