Recherche - Collège de France

68 résultats

	Pour les 68 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 3 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Usher Syndrome and Color Vision Anne Kurtenbach , Gesa Hahn , Christoph Kernstock , Stephanie Hipp , Ditta Zobor , et al. Current Eye Research, 2018, 43 (10), pp.1295-1301. ⟨10.1080/02713683.2018.1501804⟩ Article dans une revue pasteur-03219639v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells Maryline Beurg , Nicolas Michalski , Saaid Safieddine , Yohan Bouleau , Ralf Schneggenburger , et al. Journal of Neuroscience, 2010, 30 (40), pp.13281-90. ⟨10.1523/JNEUROSCI.2528-10.2010⟩ Article dans une revue pasteur-01472847v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models Aziz El-Amraoui , Christine Petit Comptes Rendus. Biologies, 2014, 337 (3), pp.167 - 177. ⟨10.1016/j.crvi.2013.12.004⟩ Article dans une revue pasteur-03922364v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families Imane Aitraise , Ghita Amalou , Amina Bakhchane , Amale Bousfiha , Houria Abdelghaffar , et al. Biochemical Genetics, 2023, 62, pp.1914-1924. ⟨10.1007/s10528-023-10515-5⟩ Article dans une revue pasteur-04235312v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Thérapie génique des surdités humaines Anaïs Meyer , Christine Petit , Saaid Safieddine Médecine/Sciences, 2013, 29 (10), pp.883 - 889. ⟨10.1051/medsci/20132910016⟩ Article dans une revue hal-04159599v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment Crystel Bonnet , M. Louha , N. Loundon , N. Michalski , E. Verpy , et al. Gene, 2013, 527 (2), pp.537-540. ⟨10.1016/j.gene.2013.06.044⟩ Article dans une revue istex pasteur-04309222v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! Sandrine Marlin , Delphine Feldmann , Yann Nguyen , Isabelle Rouillon , Natalie Loundon , et al. Biochemical and Biophysical Research Communications, 2010, 394 (3), pp.737-742. ⟨10.1016/j.bbrc.2010.03.062⟩ Article dans une revue istex pasteur-04309241v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene Olaia Subirà , Jaume Català-Mora , Jesús Díaz-Cascajosa , Noel Padrón-Pérez , M. Claveria , et al. Eye, 2020, 34 (3), pp.499-506. ⟨10.1038/s41433-019-0536-6⟩ Article dans une revue pasteur-03219607v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Otologie et audiologie, un parcours de soin en pleine mutation à la lumière des avancées scientifiques [Éditorial] Paul Avan , Christine Petit Médecine/Sciences, 2022, 38 (8-9), pp.621-622. ⟨10.1051/medsci/2022110⟩ Article dans une revue pasteur-03982537v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome Samia Abdi , Mohamed Makrelouf , Issa Nazim Rous , Kheireddine Ounnoughi , Akila Zenati , et al. Gene Reports, 2024, 36, pp.101954. ⟨10.1016/j.genrep.2024.101954⟩ Article dans une revue pasteur-04691606v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders Amale Bousfiha , Amina Bakhchane , Hicham Charoute , Zied Riahi , Khalid Snoussi , et al. Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩ Article dans une revue pasteur-03219646v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush Ana Fakin , Crystel Bonnet , Anne Kurtenbach , Saddek Mohand-Said , Ditta Zobor , et al. International Journal of Molecular Sciences, 2021, 22 (19), pp.10352. ⟨10.3390/ijms221910352⟩ Article dans une revue hal-03417248v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Viral transfer of mini-otoferlins partially restores the fast component of exocytosis and uncovers ultrafast endocytosis in auditory hair cells of otoferlin knock-out mice Margot Tertrais , Yohan Bouleau , Alice Emptoz , Séverin Belleudy , R Bryan Sutton , et al. Journal of Neuroscience, 2019, 39 (18), pp.3394-3411. ⟨10.1523/JNEUROSCI.1550-18.2018⟩ Article dans une revue hal-04159459v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss Ju Sun Song , Amel Bahloul , Christine Petit , Sang Jin Kim , Il Joon Moon , et al. Annals of Laboratory Medicine, 2020, 40 (3), pp.224-231. ⟨10.3343/alm.2020.40.3.224⟩ Article dans une revue hal-02433812v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G Alice Emptoz , Vincent Michel , Andrea Lelli , Omar Akil , Jacques Boutet de Monvel , et al. Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (36), pp.9695 - 9700. ⟨10.1073/pnas.1708894114⟩ Article dans une revue hal-01661148v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study Katarina Stingl , Anne Kurtenbach , Gesa Hahn , Christoph Kernstock , Stephanie Hipp , et al. Documenta Ophthalmologica, 2019, 139 (2), pp.151-160. ⟨10.1007/s10633-019-09704-8⟩ Article dans une revue pasteur-03219625v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function Lucy A Dunbar , Pranav Patni , Carlos Aguilar , Philomena Mburu , Laura Corns , et al. EMBO Molecular Medicine, 2019, 11 (9), pp.e10288. ⟨10.15252/emmm.201910288⟩ Article dans une revue pasteur-03261798v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Exocytotic Machineries of Vestibular Type I and Cochlear Ribbon Synapses Display Similar Intrinsic Otoferlin-Dependent Ca2+ Sensitivity But a Different Coupling to Ca2+ Channels P. Vincent , Y. Bouleau , S. Safieddine , Christine Petit , D. Dulon Journal of Neuroscience, 2014, 34 (33), pp.10853-10869. ⟨10.1523/JNEUROSCI.0947-14.2014⟩ Article dans une revue hal-04160516v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route Samantha Papal , Matteo Cortese , Kirian Legendre , Nasrin Sorusch , Joseph Dragavon , et al. Human Molecular Genetics, 2013, 22 (18), pp.3773 - 3788. ⟨10.1093/hmg/ddt228⟩ Article dans une revue pasteur-03922387v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis Léo Varnet , Agnès C Léger , Sophie Boucher , Crystel Bonnet , Christine Petit , et al. Frontiers in Aging Neuroscience, 2021, 13, pp.640522. ⟨10.3389/fnagi.2021.640522⟩ Article dans une revue hal-03154679v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Otoferlin Is Critical for a Highly Sensitive and Linear Calcium-Dependent Exocytosis at Vestibular Hair Cell Ribbon Synapses Didier Dulon , Saaid Safieddine , Sherri M Jones , Christine Petit Journal of Neuroscience, 2009, 29 (34), pp.10474-10487. ⟨10.1523/JNEUROSCI.1009-09.2009⟩ Article dans une revue hal-04159603v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation Laura F Corns , Stuart L Johnson , Terri Roberts , Kishani M Ranatunga , Aenea Hendry , et al. Nature Communications, 2018, 9 (1), pp.4015. ⟨10.1038/s41467-018-06307-w⟩ Article dans une revue hal-04159530v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model Ghizlene Lahlou , Charlotte Calvet , François Simon , Vincent Michel , Lauranne Alciato , et al. JCI Insight, 2024, 9 (3), pp.e169504. ⟨10.1172/jci.insight.169504⟩ Article dans une revue hal-04471800v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family Soukaina Elrharchi , Zied Riahi , Sara Salime , Hicham Charoute , Lamiae Elkhattabi , et al. Human Heredity, 2021, 85 (1), pp.35-39. ⟨10.1159/000512712⟩ Article dans une revue pasteur-03219602v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Different Ca V 1.3 Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells Philippe F.Y. Vincent , Yohan Bouleau , Gilles Charpentier , Alice Emptoz , Saaid Safieddine , et al. Journal of Neuroscience, 2017, 37 (11), pp.2960-2975. ⟨10.1523/JNEUROSCI.2374-16.2017⟩ Article dans une revue hal-04159590v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness Malak Salame , Crystel Bonnet , Ely Cheikh Mohamed Moctar , Selma Mohamed Brahim , Abdallahi Dedy , et al. European Archives of Oto-Rhino-Laryngology, 2023, 280, pp.4057-4063. ⟨10.1007/s00405-023-07907-z⟩ Article dans une revue pasteur-04053511v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province Sonia Talbi , Crystel Bonnet , Zied Riahi , Farid Boudjenah , Malika Dahmani , et al. International Journal of Pediatric Otorhinolaryngology, 2018, 112, pp.1-5. ⟨10.1016/j.ijporl.2018.06.012⟩ Article dans une revue pasteur-03219637v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis Malika Dahmani , Sonia Talbi , Fatima Ammar-Khodja , Sofiane Ouhab , Farid Boudjenah , et al. International Journal of Pediatric Otorhinolaryngology, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩ Article dans une revue pasteur-03219608v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane Paul Avan , Sébastien Le Gal , Vincent Michel , Typhaine Dupont , Jean-Pierre Hardelin , et al. Proceedings of the National Academy of Sciences of the United States of America, 2019, 116 (51), pp.25948-25957. ⟨10.1073/pnas.1902781116⟩ Article dans une revue pasteur-02860028v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More
		Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids Amel Bahloul , Vincent Michel , Jean-Pierre Hardelin , Sylvie Nouaille , Sylviane Hoos , et al. Human Molecular Genetics, 2010, 19 (18), pp.3557 - 3565. ⟨10.1093/hmg/ddq271⟩ Article dans une revue pasteur-03525648v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager More

Filtrer vos résultats

Usher Syndrome and Color Vision

Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells

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

Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families

Thérapie génique des surdités humaines

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene

Otologie et audiologie, un parcours de soin en pleine mutation à la lumière des avancées scientifiques [Éditorial]

Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

Viral transfer of mini-otoferlins partially restores the fast component of exocytosis and uncovers ultrafast endocytosis in auditory hair cells of otoferlin knock-out mice

A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study

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

Exocytotic Machineries of Vestibular Type I and Cochlear Ribbon Synapses Display Similar Intrinsic Otoferlin-Dependent Ca2+ Sensitivity But a Different Coupling to Ca2+ Channels

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

Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis

Otoferlin Is Critical for a Highly Sensitive and Linear Calcium-Dependent Exocytosis at Vestibular Hair Cell Ribbon Synapses

Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation

Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family

Different Ca V 1.3 Channel Isoforms Control Distinct Components of the Synaptic Vesicle Cycle in Auditory Inner Hair Cells

Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province

ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis

Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane

Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids