Scientific publications
Publications
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2022
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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
- Hong Joo Kim
- Payam Mohassel
- Sandra Donkervoort
- Lin Guo
- Kevin O’donovan
- Maura Coughlin
- Xaviere Lornage
- Nicola Foulds
- Simon Hammans
- A. Reghan Foley
- Charlotte Fare
- Alice Ford
- Masashi Ogasawara
- Aki Sato
- Aritoshi Iida
- Pinki Munot
- Gautam Ambegaonkar
- Rahul Phadke
- Dominic O’donovan
- Rebecca Buchert
- ...
Nature Communications ; Volume: 13 ; Page: 2306
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Thiol sensing: From current methods to nanoscale contribution
- Margaux Berthou
- Igor Clarot
- Jeremie Gouyon
- Damien Steyer
- Marie Anais Monat
- Ariane Boudier
- Arnaud Pallotta
Microchemical Journal ; Volume: 183 ; Page: 107994
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The cooperative folding of annexin A2 relies on a transient nonnative intermediate
- Hanne Hollås
- Juan Ramirez
- Yves Nominé
- Camille Kostmann
- Angelo Toto
- Stefano Gianni
- Gilles Travé
- Anni Vedeler
Biophysical Journal ; Volume: 121 ; Page: 4492-4504
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Further delineation of KIF21B-related neurodevelopmental disorders
- Dhanya Lakshmi Narayanan
- Jose Rivera Alvarez
- Peggy Tilly
- Michelle C. Do Rosario
- Vivekananda Bhat
- Juliette Godin
- Anju Shukla
Journal of Human Genetics ; Volume: 67 ; Page: 729-733
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Language and verbal fluency outcome after bilateral subthalamic Nucleus Deep Brain Stimulation in Parkinson's disease
- Guillemette Clément
- Thomas Wirth
- Lucile Haumesser
- Marie Des Neiges Santin
- Jimmy Voirin
- Ouhaid Lagha-Boukbiza
- Céline Labonne
- Christine Tranchant
- Nadine Longato
- Clélie Phillipps
- Mathieu Anheim
Parkinsonism & related disorders ; Volume: 105 ; Page: 15-18
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Genetic landscape of indolent and aggressive Kaposi sarcomas
- Gabriel Malouf
- Xiaofan Lu
- Roger Mouawad
- Jean-Philippe Spano
- Philippe Grange
- F. Yan
- Selim Aractingi
- Xiaoping Su
- Nicolas Dupin
Journal of the European Academy of Dermatology and Venereology ; Volume: 36 ; Page: 2343-2351
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Mutation update for the ACTN2 gene
- Johanna Ranta-Aho
- Montse Olive
- Marie Vandroux
- Giorgia Roticiani
- Cristina Dominguez
- Mridul Johari
- Annalaura Torella
- Johann Böhm
- Janina Turon
- Vincenzo Nigro
- Peter Hackman
- Jocelyn Laporte
- Bjarne Udd
- Marco Savarese
Human Mutation ; Volume: 43 ; Page: 1745-1756
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Reply to: "GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype
- Thomas Wirth
- Giacomo Garone
- Manju A. Kurian
- Amélie Piton
- Emmanuel Roze
- Jean Pierre Lin
- Christine Tranchant
- Laura Cif
- Diane Doummar
- Mathieu Anheim
Movement Disorders ; Volume: 37 ; Page: 2466-2467
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
- Clémence Labasse
- Guy Brochier
- Ana-Lia Taratuto
- Bruno Cadot
- John Rendu
- Soledad Monges
- Valérie Biancalana
- Susana Quijano-Roy
- Mai Thao Bui
- Anaïs Chanut
- Angéline Madelaine
- Emmanuelle Lacène
- Maud Beuvin
- Helge Amthor
- Laurent Servais
- Yvan de Feraudy
- Marcela Erro
- Maria Saccoliti
- Osorio Abath Neto
- Julien Fauré
- ...
Acta Neuropathologica Communications ; Volume: 10 ; Page: 101
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Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study
- Thomas Bogdan
- Thomas Wirth
- Andra Losif
- Audrey Schalk
- Solveig Montaut
- Camille Bonnard
- Germain Carre
- Ouhaïd Lagha-Boukbiza
- Cécile Reschwein
- Emmanuelle Albugues
- Stanislas Demuth
- Hanna Landsberger
- Maximilian Einsiedler
- Timothée Parratte
- Alexis Nguyen
- Florian Lamy
- Hélène Durand
- Pauline Fahrer
- Paul Voulleminot
- Kevin Bigaut
- ...
Journal of Neurology ; Volume: 269 ; Page: 6354-6365
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