Publications scientifiques
Les équipes de recherches de l'IGBMC publient régulièrement des articles qui font avancer les connaissances dans divers domaines de recherche. Vous trouverez sur cette page l'ensemble des publications dans lesquels les travaux de nos scientifiques sont cités.
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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