Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

Autor: Clémence Fournier, Vincent Anquetil, Agnès Camuzat, Sandrine Stirati-Buron, Véronique Sazdovitch, Laura Molina-Porcel, Sabrina Turbant, Daisy Rinaldi, Raquel Sánchez-Valle, Mathieu Barbier, Morwena Latouche, Neuro-CEB Neuropathology Network, Giovanni Stevanin, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Isabelle Le Ber

Publikováno v: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-4 (2018)

Externí odkaz: https://doaj.org/article/0b644dde6e024fcd9860b2ce71abf3e6

Supersolid phases of ultracold bosons trapped in optical lattices dressed with Rydberg p states

Autor: Mathieu Barbier, Henrik Lütjeharms, Walter Hofstetter

Publikováno v: Physical Review A. 105

Engineering quantum phases with spontaneously broken symmetries is a major goal of research in different fields. Trapped ultracold Rydberg-excited atoms in optical lattices are a promising platform for realizing quantum phases with broken lattice tra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9bc084501c40a1d87967cd1f0662144
https://doi.org/10.1103/physreva.105.013326

Heterozygous PNPT1 variants cause spinocerebellar ataxia type 25

Autor: Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, Maxime Jacoupy, Rick M. Tankard, Claire Ewenczyk, Kayli C. Davies, Patricia Lino‐Coulon, Claire Colace, Haloom Rafehi, Nicolas Auger, Brendan R. E. Ansell, Ivo van der Stelt, Katherine B. Howell, Marie Coutelier, David J. Amor, Emeline Mundwiller, Lena Guillot‐Noël, Elsdon Storey, R. J. McKinlay Gardner, Mathew J. Wallis, Alfredo Brusco, Olga Corti, Agnès Rötig, Richard J. Leventer, Alexis Brice, Martin B. Delatycki, Giovanni Stevanin, Paul J. Lockhart, Alexandra Durr

Dominant spinocerebellar ataxias (SCA) are characterized by genetic heterogeneity. Some mapped and named loci remain without a causal gene identified. Here we applied next generation sequencing (NGS) to uncover the genetic etiology of the SCA25 locus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6371cb122ce41e675c28e9f8115847d5
http://hdl.handle.net/2318/1854166

Reply: Two heterozygous Progranulin mutations in progressive supranuclear palsy

Autor: Alexandra Durr, Mathieu Barbier, Vincent Huin, Isabelle Le Ber

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, ⟨10.1093/brain/awaa456⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, ⟨10.1093/brain/awaa456⟩

International audience; We would like to reply to Yang et al., 2020, reporting a patient diagnosed with progressive supranuclear palsy (PSP) who carried two novel heterozygous missense variants in GRN gene. The case reported by Yang et al., raises so

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70d7306e4852d5f4c8c7818fa92234f5
https://hal.sorbonne-universite.fr/hal-03113276

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Autor: Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S. Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood

Publikováno v: Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1851-1862. ⟨10.1038/s41436-020-0899-x⟩
Genetics in medicine

International audience; Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48).Methods: We analyzed a large ser

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c4642c4e5d177527da8016ea948e04
https://hal.umontpellier.fr/hal-03369330