Works matching AU Blanchard, Stéphane

Results: 16

Functional maturation of human iPSC-derived pyramidal neurons in vivo is dependent on proximity with the host tissue.

Published in:

Frontiers in Cellular Neuroscience, 2023, p. 1, doi. 10.3389/fncel.2023.1259712

By:

Raïs, Célia;
Santos, Daniela Gaspar;
Sansone, Giulia;
Blanchard, Stéphane;
Bourgeois, Jean-Pierre;
Jagla, Bernd;
Saudemont, Baptiste;
Schlick, Laurène;
Pons, Stéphanie;
Maskos, Uwe

Publication type:

Article

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.

Published in:

Nature Genetics, 2003, v. 34, n. 4, p. 421, doi. 10.1038/ng1208

By:

Mburu, Philomena;
Mustapha, Mirna;
Varela, Anabel;
Weil, Dominique;
El-Amraoui, Aziz;
Holme, Ralph H.;
Rump, Andreas;
Hardisty, Rachel E.;
Blanchard, Stéphane;
Coimbra, Roney S.;
Perfettini, Isabele;
Parkinson, Nick;
Mallon, Ann-Marie;
Glenister, Pete;
Rogers, Mike J.;
Paige, Adam J.;
Moir, Lee;
Clay, Jo;
Rosenthal, Andre

Publication type:

Article

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Published in:

Nature Genetics, 2001, v. 29, n. 3, p. 345, doi. 10.1038/ng726

By:

Verpy, Elisabeth;
Masmoudi, Saber;
Zwaenepoel, Ingrid;
Leibovici, Michel;
Hutchin, Tim P.;
Del Castillo, Ignacio;
Nouaille, Sylvie;
Blanchard, Stéphane;
Lainé, Sophie;
Popot, Jean-Luc;
Moreno, Felipe;
Mueller, Robert F.;
Petit, Christine

Publication type:

Article

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Published in:

Nature Genetics, 2000, v. 26, n. 1, p. 51, doi. 10.1038/79171

By:

Verpy, Elisabeth;
Leibovici, Michel;
Zwaenepoel, Ingrid;
Liu, Xue-Zhong;
Gal, Andreas;
Salem, Nabiha;
Mansour, Ahmad;
Blanchard, Stéphane;
Kobayashi, Ichiro;
Keats, Bronya J.B.;
Slim, Rima;
Petit, Christine

Publication type:

Article

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.

Published in:

2002

By:

El-Amraoui, Aziz;
Schonn, Jean-Sébastien;
Kussel-Andermann, Polonca;
Blanchard, Stéphane;
Desnos, Claire;
Henry, Jean-Pierre;
Wolfrum, Uwe;
Darchen, François;
Petit, Christine

Publication type:

Report

Myosin VIIA Gene: Heterogeneity of the Mutations Responsible for Usher Syndrome Type IB.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 111, doi. 10.1093/hmg/6.1.111

By:

Lévy, Gallia;
Levi-Acobas, Fabienne;
Blanchard, Stéphane;
Gerber, Sylvie;
Larget-Piet, Dominique;
Chenal, Viviane;
Liu, Xue-Zhong;
Newton, Valerie;
Steel, Karen P.;
Brown, Steve D. M.;
Munnich, Arnold;
Kaplan, Josseline;
Petit, Christine;
Weil, Dominique

Publication type:

Article

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 989

By:

Guilford, Parry;
Ayadi, Hamadi;
Blanchard, Stéphane;
Chaib, Hassan;
Paslier, Denis Le;
Weissenbach, Jean;
Drira, Mohamed;
Petit, Christine

Publication type:

Article

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 4, p. 373

By:

Hardelin, Jean-Pierre;
Levilliers, Jacqueline;
Blanchard, Stéphane;
Carel, Jean-Claude;
Leutenegger, Marc;
Pinard-Bertelletto, Jean-Pierre;
Bouloux, Pierre;
Petit, Christine

Publication type:

Article

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 34, doi. 10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O

By:

Zwaenepoel, Ingrid;
Verpy, Elisabeth;
Blanchard, Stéphane;
Meins, Moritz;
Apfelstedt-Sylla, Eckart;
Gal, Andreas;
Petit, Christine

Publication type:

Article

Townes-Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Published in:

Human Mutation, 1999, v. 14, n. 5, p. 377, doi. 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A

By:

Marlin, Sandrine;
Blanchard, Stéphane;
Slim, Rima;
Lacombe, Didier;
Denoyelle, Françoise;
Alessandri, Jean-Louis;
Calzolari, Elisa;
Drouin-Garraud, Valérie;
Ferraz, F.G.;
Fourmaintraux, Alain;
Philip, Nicole;
Toublanc, Jean-Edmond;
Petit, Christine

Publication type:

Article

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.

Published in:

EMBO Journal, 2002, v. 21, n. 24, p. 6689, doi. 10.1093/emboj/cdf689

By:

Boëda, Batiste;
El-Amraoui, Aziz;
Bahloul, Amel;
Goodyear, Richard;
Daviet, Laurent;
Blanchard, Stéphane;
Perfettini, Isabelle;
Fath, Karl R.;
Shorte, Spencer;
Reiners, Jan;
Houdusse, Anne;
Legrain, Pierre;
Wolfrum, Uwe;
Richardson, Guy;
Petit, Christine

Publication type:

Article

Human polymorphisms in nicotinic receptors: a functional analysis in iPS-derived dopaminergic neurons.

Published in:

FASEB Journal, 2017, v. 31, n. 2, p. 828, doi. 10.1096/fj.201600932R

By:

Deflorio, Cristina;
Blanchard, Stéphane;
Carisì, Maria Carla;
Bohl, Delphine;
Maskos, Uwe

Publication type:

Article

TECPR1 promotes aggrephagy by direct recruitment of LC3C autophagosomes to lysosomes.

Published in:

Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16689-5

By:

Wetzel, Lisa;
Blanchard, Stéphane;
Rama, Sowmya;
Beier, Viola;
Kaufmann, Anna;
Wollert, Thomas

Publication type:

Article

Directed Evolution of Motor Neurons from Genetically Engineered Neural Precursors.

Published in:

Stem Cells, 2008, v. 26, n. 10, p. 2564, doi. 10.1634/stemcells.2008-0371

By:

Bohl, Delphine;
Song Liu;
Blanchard, Stéphane;
Hocquemiller, Michaël;
Haase, Georg;
Heard, Jean-Michel

Publication type:

Article

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3653, doi. 10.1093/hmg/ddr285

By:

Lemonnier, Thomas;
Blanchard, Stéphane;
Toli, Diana;
Roy, Elise;
Bigou, Stéphanie;
Froissart, Roseline;
Rouvet, Isabelle;
Vitry, Sandrine;
Heard, Jean Michel;
Bohl, Delphine

Publication type:

Article

Neurofilament accumulations in amyotrophic lateral sclerosis patients’ motor neurons impair axonal initial segment integrity.

Published in:

Cellular & Molecular Life Sciences, 2023, v. 80, n. 6, p. 1, doi. 10.1007/s00018-023-04797-6

By:

Lefebvre-Omar, Cynthia;
Liu, Elise;
Dalle, Carine;
d’Incamps, Boris Lamotte;
Bigou, Stéphanie;
Daube, Clément;
Karpf, Léa;
Davenne, Marc;
Robil, Noémie;
Jost Mousseau, Coline;
Blanchard, Stéphane;
Tournaire, Guillaume;
Nicaise, Charles;
Salachas, François;
Lacomblez, Lucette;
Seilhean, Danielle;
Lobsiger, Christian S.;
Millecamps, Stéphanie;
Boillée, Séverine;
Bohl, Delphine

Publication type:

Article