N
Nicolas Lebrun
Researcher at French Institute of Health and Medical Research
Publications - 47
Citations - 2014
Nicolas Lebrun is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: X-linked intellectual disability & Internal medicine. The author has an hindex of 18, co-authored 41 publications receiving 1636 citations. Previous affiliations of Nicolas Lebrun include Centre national de la recherche scientifique & Paris Descartes University.
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Journal ArticleDOI
Mutations in TUBG1 , DYNC1H1 , KIF5C and KIF2A cause malformations of cortical development and microcephaly
Karine Poirier,Nicolas Lebrun,Nicolas Lebrun,Loic Broix,Loic Broix,Guoling Tian,Yoann Saillour,Yoann Saillour,Cécile Boscheron,Elena Parrini,Stéphanie Valence,Stéphanie Valence,Benjamin Saint Pierre,Benjamin Saint Pierre,Madison Oger,Madison Oger,Didier Lacombe,David Geneviève,Elena Fontana,Franscesca Darra,Claude Cances,Magalie Barth,Dominique Bonneau,Bernardo Dalla Bernadina,Sylvie Nguyen,Cyril Gitiaux,Cyril Gitiaux,Cyril Gitiaux,Philippe Parent,Vincent des Portes,Jean Michel Pedespan,Victoire Legrez,Laetitia Castelnau-Ptakine,Laetitia Castelnau-Ptakine,Patrick Nitschke,Thierry Hieu,Cécile Masson,Diana Zelenika,Annie Andrieux,Fiona Francis,Fiona Francis,Renzo Guerrini,Nicholas J. Cowan,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Jamel Chelly,Jamel Chelly +47 more
TL;DR: The discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD are reported, suggesting that microtubule-dependent mitotic and postmitotic processes are major contributors to the pathogenesis of MCD.
Journal ArticleDOI
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
Karine Poirier,Yoann Saillour,Yoann Saillour,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Xavier H. Jaglin,Xavier H. Jaglin,Catherine Fallet-Bianco,Rima Nabbout,Laetitia Castelnau-Ptakhine,Laetitia Castelnau-Ptakhine,Agathe Roubertie,Tania Attié-Bitach,Isabelle Desguerre,Isabelle Desguerre,David Geneviève,Christine Barnerias,Boris Keren,Nicolas Lebrun,Nicolas Lebrun,Nathalie Boddaert,Férechté Encha-Razavi,Jamel Chelly,Jamel Chelly +23 more
TL;DR: The discovery of six novel missense mutations in the TUBB3 gene are reported, including one fetal case and one homozygous variation, in nine patients that all share cortical disorganization, axonal abnormalities associated with pontocerebellar hypoplasia, but with no ocular motility defects, CFEOM3.
Journal ArticleDOI
The Wide Spectrum of Tubulinopathies: What Are the Key Features for the Diagnosis?
Nadia Bahi-Buisson,Karine Poirier,Franck J. Fourniol,Yoann Saillour,Yoann Saillour,Stéphanie Valence,Stéphanie Valence,Nicolas Lebrun,Nicolas Lebrun,Marie Hully,Catherine Fallet Bianco,Nathalie Boddaert,Caroline Elie,Karine Lascelles,Isabelle Souville,Cherif Beldjord,Jamel Chelly,Jamel Chelly +17 more
TL;DR: This large cohort further clarifies overlapping phenotypes between tubulinopathies and although current structural data do not allow prediction of mutation-related phenotypes, within each mutated gene there is an associated predominant pattern of cortical dysgenesis allowing some phenotype-genotype correlation.
Journal ArticleDOI
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hao Hu,Stefan A. Haas,Jamel Chelly,Jamel Chelly,H Van Esch,Martine Raynaud,A.P.M. de Brouwer,Stefanie Weinert,Guy Froyen,Suzanna G.M. Frints,Frédéric Laumonnier,Tomasz Zemojtel,Michael I. Love,Hugues Richard,Anne-Katrin Emde,M Bienek,C Jensen,Melanie Hambrock,Utz Fischer,Claudia Langnick,Mirjam Feldkamp,Willemijn M. Wissink-Lindhout,Nicolas Lebrun,Nicolas Lebrun,L. Castelnau,L. Castelnau,Julien Rucci,Julien Rucci,R. Montjean,R. Montjean,Olivier Dorseuil,Olivier Dorseuil,Pierre Billuart,Pierre Billuart,T. Stuhlmann,Marie Shaw,Mark A. Corbett,Alison Gardner,Saffron A.G. Willis-Owen,Saffron A.G. Willis-Owen,C Tan,Kathryn Friend,Stefanie Belet,K. E. P. van Roozendaal,M Jimenez-Pocquet,Marie-Pierre Moizard,Nathalie Ronce,Ruping Sun,Sean O'Keeffe,Ramu Chenna,A. van Bömmel,Jonathan Göke,Anna Hackett,Michael Field,Louise Christie,Jackie Boyle,Eric Haan,Eric Haan,John Nelson,Gillian Turner,Gareth Baynam,Gabriele Gillessen-Kaesbach,Ulrich Müller,Daniela Steinberger,Bartłomiej Budny,Magdalena Badura-Stronka,Anna Latos-Bielenska,Lilian Bomme Ousager,Peter Wieacker,G. Rodríguez Criado,Marie-Louise Bondeson,Göran Annerén,Andreas Dufke,Monika Cohen,L. Van Maldergem,Catherine Vincent-Delorme,Bernard Echenne,B. Simon-Bouy,Tjitske Kleefstra,Marjolein H. Willemsen,J. P. Fryns,Koenraad Devriendt,Reinhard Ullmann,Martin Vingron,Klaus Wrogemann,Klaus Wrogemann,Thomas F. Wienker,Andreas Tzschach,H Van Bokhoven,Jozef Gecz,Thomas J. Jentsch,Wei Chen,Hans-Hilger Ropers,Vera M. Kalscheuer +93 more
TL;DR: It is suggested that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X- Chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.
Journal ArticleDOI
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis
Ginevra Zanni,Tito Calì,Vera M. Kalscheuer,Denis Ottolini,Sabina Barresi,Nicolas Lebrun,Luisa Montecchi-Palazzi,Hao Hu,Jamel Chelly,Enrico Bertini,Marisa Brini,Ernesto Carafoli +11 more
TL;DR: Using X-exome sequencing, a missense mutation (G1107D) in the CaM-binding domain of isoform 3 of the PMCAs in a family with X-linked congenital cerebellar ataxia is identified, which reduced the ability of thePMCA3 pump to control the cellular homeostasis of Ca2+.