All papers authored by Laurence Colleaux
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2019
Devesh C. Pant 
,
Nara Lygia de M. Sobreira,
Imen Dorboz,
Agatha Schluter,
Stéphane Fourcade,
Nathalie Launay,
Javier Joya,
Sergio Aguilera-Albesa ,
Maria Eugenia Yoldi,
Carlos Casasnovas,
Mary J. Willis,
Montserrat Ruiz ,
Dorothée Ville,
Gaetan Lesca ,
Karine Siquier-Pernet
and 31 other authors
,
Nara Lygia de M. Sobreira,
Imen Dorboz,
Agatha Schluter,
Stéphane Fourcade,
Nathalie Launay,
Javier Joya,
Sergio Aguilera-Albesa ,
Maria Eugenia Yoldi,
Carlos Casasnovas,
Mary J. Willis,
Montserrat Ruiz ,
Dorothée Ville,
Gaetan Lesca ,
Karine Siquier-Pernet
and 31 other authors
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
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2018
Lam Son Nguyen,
Julien Fregeac,
Christine Bole-Feysot,
Nicolas Cagnard,
Anand Iyer ,
Jasper Anink,
Eleonora Aronica,
Olivier Alibeu ,
Patrick Nitschke,
Laurence Colleaux
Download from link.springer.com
,
Jasper Anink,
Eleonora Aronica,
Olivier Alibeu ,
Patrick Nitschke,
Laurence Colleaux
Download from link.springer.com
2016
Julien Fregeac,
Laurence Colleaux ,
Lam Son Nguyen
,
Lam Son Nguyen
The emerging roles of MicroRNAs in autism spectrum disorders
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Elizabeth J. Bhoj,
Dong Li,
Margaret Harr,
Shimon Edvardson,
Orly Elpeleg,
Elizabeth Chisholm,
Jane Juusola,
Ganka Douglas,
Maria J. Guillen Sacoto,
Karine Siquier-Pernet,
Abdelkrim Saadi,
Christine Bole-Feysot,
Patrick Nitschke,
Alekhya Narravula,
Maria Walke
and 9 other authors
Download from www.ncbi.nlm.nih.gov
Holly A. F. Stessman,
Marjolein H. Willemsen,
Michaela Fenckova,
Osnat Penn,
Alexander Hoischen ,
Bo Xiong ,
Tianyun Wang,
Kendra Hoekzema,
Laura Vives,
Ida Vogel,
Han G. Brunner,
Ineke van der Burgt,
Charlotte W. Ockeloen,
Janneke H. Schuurs Hoeijmakers,
Jolien S. Klein Wassink Ruiter
and 36 other authors
,
Bo Xiong ,
Tianyun Wang,
Kendra Hoekzema,
Laura Vives,
Ida Vogel,
Han G. Brunner,
Ineke van der Burgt,
Charlotte W. Ockeloen,
Janneke H. Schuurs Hoeijmakers,
Jolien S. Klein Wassink Ruiter
and 36 other authors
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Download from www.researchgate.net
2015
Abdelkrim Saadi,
Florine Verny,
Karine Siquier-Pernet,
Christine Bole-Feysot,
Patrick Nitschke,
Arnold Munnich,
Myriam Abada-Dendib,
Malika Chaouch,
Marc Abramowicz,
Laurence Colleaux
Refining the phenotype associated with CASC5 mutation
Download from www.researchgate.net
Hisham Megahed,
Michaël Nicouleau,
Giulia Barcia,
Daniel Medina-Cano,
Karine Siquier-Pernet,
Christine Bole-Feysot,
Mélanie Parisot,
Cécile Masson,
Patrick Nitschké,
Marlène Rio,
Nadia Bahi-Buisson,
Isabelle Desguerre,
Arnold Munnich,
Nathalie Boddaert,
Laurence Colleaux
and 1 other authors
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and 1 other authors
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Dennis Mircsof,
Maéva Langouët,
Marlène Rio,
Sébastien Moutton ,
Karine Siquier-Pernet,
Christine Bole-Feysot,
Nicolas Cagnard,
Patrick Nitschke,
Ludmila Gaspar,
Matej Žnidarič,
Ann-Kristina Fritz,
David P. Wolfer,
Aileen Schröter,
Giovanna Bosshard,
Markus Rudin
and 14 other authors
,
Karine Siquier-Pernet,
Christine Bole-Feysot,
Nicolas Cagnard,
Patrick Nitschke,
Ludmila Gaspar,
Matej Žnidarič,
Ann-Kristina Fritz,
David P. Wolfer,
Aileen Schröter,
Giovanna Bosshard,
Markus Rudin
and 14 other authors
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
Download from www.nature.com
Lam Son Nguyen,
Taiane Schneider ,
Marlène Rio,
Sébastien Moutton,
Karine Siquier-Pernet,
Florine Verny,
Nathalie Boddaert,
Isabelle Desguerre,
Arnold Munich,
José Luis Rosa,
Valérie Cormier-Daire ,
Laurence Colleaux
Download from www.nature.com
,
Marlène Rio,
Sébastien Moutton,
Karine Siquier-Pernet,
Florine Verny,
Nathalie Boddaert,
Isabelle Desguerre,
Arnold Munich,
José Luis Rosa,
Valérie Cormier-Daire ,
Laurence Colleaux
Download from www.nature.com
2014
Grace E. Kim,
Jack Kronengold,
Giulia Barcia,
Imran H. Quraishi,
Hilary C. Martin,
Edward Blair,
Jenny C. Taylor ,
Olivier Dulac,
Laurence Colleaux ,
Rima Nabbout,
Leonard K. Kaczmarek
,
Olivier Dulac,
Laurence Colleaux ,
Rima Nabbout,
Leonard K. Kaczmarek
Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels
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Mathilde Nizon,
Joris Andrieux,
Catherine Rooryck,
Marie-Christine de Blois,
Emilie Bourel-Ponchel,
Béatrice Bourgois,
Odile Boute,
Albert David,
Bruno Delobel,
Bénédicte Duban-Bedu,
Fabienne Giuliano,
Alice Goldenberg,
Sarah Grotto,
Delphine Héron,
Houda Karmous-Benailly
and 24 other authors
Download from www.researchgate.net
Xiaochang Zhang,
Jiqiang Ling,
Giulia Barcia,
Lili Jing,
Jiang Wu,
Brenda J. Barry,
Ganeshwaran H. Mochida ,
R. Sean Hill,
R. Sean Hill,
Jill M. Weimer,
Quinn Stein,
Annapurna Poduri,
Jennifer N. Partlow,
Dorothée Ville,
Olivier Dulac
and 11 other authors
Download from www.ncbi.nlm.nih.gov
,
R. Sean Hill,
R. Sean Hill,
Jill M. Weimer,
Quinn Stein,
Annapurna Poduri,
Jennifer N. Partlow,
Dorothée Ville,
Olivier Dulac
and 11 other authors
Download from www.ncbi.nlm.nih.gov
Elin Enervald,
E. Enervald (Elin),
Likun Du ,
L. Du (Likun),
Torkild Visnes ,
T. Visnes (Torkild),
Andrea Björkman,
A. Björkman (Andrea),
Emma Lindgren,
E. Lindgren (Emma),
Josephine Wincent,
J. Wincent (Josephine),
Guntram Borck,
H. Göbel (Hartmut),
Laurence Colleaux
and 20 other authors
Download from rupress.org
,
L. Du (Likun),
Torkild Visnes ,
T. Visnes (Torkild),
Andrea Björkman,
A. Björkman (Andrea),
Emma Lindgren,
E. Lindgren (Emma),
Josephine Wincent,
J. Wincent (Josephine),
Guntram Borck,
H. Göbel (Hartmut),
Laurence Colleaux
and 20 other authors
Download from rupress.org
Elizabeth K. Ruzzo,
José-Mario Capo-Chichi,
Bruria Ben-Zeev,
David Chitayat,
Hanqian Mao,
Andrea L. Pappas,
Yuki Hitomi,
Yi-Fan Lu,
Xiaodi Yao,
Fadi F. Hamdan,
Kimberly Pelak,
Haike Reznik-Wolf,
Ifat Bar-Joseph,
Danit Oz-Levi,
Dorit Lev
and 29 other authors
Download from www.ncbi.nlm.nih.gov
Lionel Van Maldergem,
Qingming Hou,
Vera M. Kalscheuer,
Marlène Rio,
Martine Doco-Fenzy,
Ana Medeira,
Arjan P. M. de Brouwer,
Christelle Cabrol,
Stefan A. Haas,
Pierre Cacciagli,
Sébastien Moutton,
Emilie Landais,
Jacques Motte,
Laurence Colleaux ,
Céline Bonnet
and 3 other authors
Download from academic.oup.com
,
Céline Bonnet
and 3 other authors
Download from academic.oup.com
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