Aziz El-Amraoui - Dissemin

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All papers authored by Aziz El-Amraoui

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2021 Barbara Vona

ORCID

, Neda Mazaheri

ORCID

, Sheng-Jia Lin

ORCID

, Lucy A. Dunbar

ORCID

, Reza Maroofian, Hela Azaiez

ORCID

, Kevin T. Booth

ORCID

, Sandrine Vitry

ORCID

, Aboulfazl Rad

ORCID

, Franz Rüschendorf

ORCID

, Pratishtha Varshney

ORCID

, Ben Fowler, Christian Beetz

ORCID

, Kumar N. Alagramam, David Murphy

ORCID

and 11 other authors

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

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2019 Lucy A. Dunbar

ORCID

, Pranav Patni, Carlos Aguilar, Philomena Mburu, Laura Corns, Helena Rr Wells, Sedigheh Delmaghani, Andrew Parker, Stuart Johnson, Debbie Williams, Christopher T. Esapa, Michelle M. Simon, Lauren Chessum, Sherylanne Newton, Joanne Dorning and 17 other authors

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

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2018 Didier Dulon

ORCID

, Samantha Papal, Pranav Patni, Matteo Cortese, Philippe F. Y. Vincent, Margot Tertrais, Alice Emptoz, Abdelaziz Tlili, Yohan Bouleau, Vincent Michel, Sedigheh Delmaghani

ORCID

, Alain Aghaie, Elise Pepermans, Olinda Alegria-Prevot, Omar Akil

ORCID

and 5 other authors

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

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K. T. Booth, K. Kahrizi

ORCID

ORCID

, H. Daghagh, G. Bademci

ORCID

, S. Arzhangi, D. Zareabdollahi, D. Duman

ORCID

, A. El-Amraoui

ORCID

, M. Tekin

ORCID

ORCID

ORCID

ORCID

Variants in CIB2 cause DFNB48 and not USH1J

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2017 Vincent Michel, Kevin T. Booth, Pranav Patni, Matteo Cortese, Hela Azaiez, Amel Bahloul

ORCID

, Kimia Kahrizi, Ménélik Labbé, Alice Emptoz, Julie Dégardin, Andrea Lelli, Typhaine Dupont, Serge Picaud, Asadollah Aghaie, Danuta Oficjalska‐Pham and 7 other authors

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

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Matteo Cortese, Samantha Papal, Francisco Pisciottano, Ana Belén Elgoyhen, Jean-Pierre Hardelin, Christine Petit, Lucia Florencia Franchini, Aziz El-Amraoui

ORCID

Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians

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2016 Paul K. Potter, Michael R. Bowl, Prashanthini Jeyarajan, Laura Wisby, Andrew Blease, Michelle E. Goldsworthy, Michelle M. Simon, Simon Greenaway, Vincent Michel, Alun Barnard, Carlos Aguilar, Thomas Agnew, Gareth Banks, Andrew Blake, Lauren Chessum and 38 other authors

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

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Crystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, Luce Smagghe, Mélanie Letexier, Charles Marcaillou, Gaëlle M. Lefèvre, Jean-Pierre Hardelin, Aziz El-Amraoui

ORCID

, Amrit Singh-Estivalet, Saddek Mohand-Saïd, Susanne Kohl, Anne Kurtenbach, Ieva Sliesoraityte, Ditta Zobor and 22 other authors

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

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Andrea Lelli, Jacques Boutet de Monvel, Vincent Michel, Jacques Boutet de Monvel, Matteo Cortese, Montserrat Bosch-Grau, Asadollah Aghaie, Isabelle Perfettini, Typhaine Dupont, Paul Avan, Aziz El-Amraoui

ORCID

, Christine Petit

Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth

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2014 Kazusaku Kamiya, Vincent Michel, Fabrice Giraudet, Brigitte Riederer, Isabelle Foucher, Samantha Papal, Isabelle Perfettini, Sebastien Le Gal, Sébastien Le Gal, Elisabeth Verpy, Weiliang Xia, Ursula Seidler, Maria-Magdalena Georgescu, Paul Avan, Aziz El-Amraoui

ORCID

and 1 other authors

An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells

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Aziz El-Amraoui

ORCID

, Kazusaku Kamiya, Vincent Michel, Fabrice Giraudet, Maria-Magdalena Gerogescu, Paul Avan, Christine Petit

A novel mode of off-frequency hearing as a result of defective outer hair cells hair bundles unveiled by Nherf1-/- mice

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Aziz El-Amraoui

ORCID

, Christine Petit

The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models

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Elsa Lhériteau, Lolita Petit, Michel Weber, Guylène Le Meur, Guylène Le Meur, Jack-Yves Deschamps, Lyse Libeau, Alexandra Mendes-Madeira, Caroline Guihal, Achille Francois, Richard Guyon, Nathalie Provost, Françoise Lemoine, Samantha Papal, Aziz El-Amraoui

ORCID

and 3 other authors

Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy.

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2013 Samantha Papal, Matteo Cortese, Kirian Legendre, Nasrin Sorusch, Joseph Dragavon, Iman Sahly, Spencer Shorte, Uwe Wolfrum, Christine Petit, Aziz El-Amraoui

ORCID

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

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Christine Petit, Aziz El-Amraoui

ORCID

, Paul Avan

Audition: Hearing and Deafness

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Aziz El-Amraoui

ORCID

, Christine Petit

Cadherin Defects in Inherited Human Diseases

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2012 Iman Sahly, Eric Dufour, Cataldo Schietroma, Vincent Michel, Amel Bahloul

ORCID

, Isabelle Perfettini, Elise Pepermans, Amrit Estivalet, Diane Carette, Asadollah Aghaie, Inga Ebermann, Andrea Lelli, Maria Iribarne, Jean-Pierre Hardelin, Dominique Weil and 3 other authors

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.

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Saaid Safieddine, Aziz El-Amraoui

ORCID

, Christine Petit

The Auditory Hair Cell Ribbon Synapse: From Assembly to Function

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2011 Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Marine Parodi, Magali Niasme-Grare, Diana Zelenika, Marc Délépine, Delphine Feldmann, Laurence Jonard, Aziz El-Amraoui

ORCID

, Dominique Weil, Bruno Delobel, Christophe Vincent and 26 other authors

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

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2009 Aziz El-Amraoui

ORCID

, Christine Petit

Cadherins as Targets for Genetic Diseases

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