Christian P Hamel

Christian P Hamel

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Christian P Hamel

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Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy.

Stem Cell Res 2019 Jul 7;38:101478. Epub 2019 Jun 7.

Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101478DOI Listing
July 2019

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis.

Stem Cell Res 2019 Jul 3;38:101476. Epub 2019 Jun 3.

Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061193010
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http://dx.doi.org/10.1016/j.scr.2019.101476DOI Listing
July 2019

Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses.

Hum Mutat 2019 Jan 8;40(1):31-35. Epub 2018 Nov 8.

Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1002/humu.23671DOI Listing
January 2019

Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa.

Stem Cell Res 2018 12 10;33:228-232. Epub 2018 Nov 10.

Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.11.004DOI Listing
December 2018

Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2.

Stem Cell Res 2018 12 16;33:247-250. Epub 2018 Nov 16.

Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier, Montpellier, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183027
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http://dx.doi.org/10.1016/j.scr.2018.11.007DOI Listing
December 2018

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.

Mol Vis 2017 18;23:131-139. Epub 2017 Mar 18.

Sorbonne Universités, UPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de la Vision, 17 rue Moreau, Paris, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360453PMC
February 2018

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.

Sci Rep 2018 02 6;8(1):2468. Epub 2018 Feb 6.

UMR INSERM U1051/Université Montpellier - Institut des Neurosciences de Montpellier, 34091, Montpellier, France.

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http://dx.doi.org/10.1038/s41598-018-20838-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5802757PMC
February 2018

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Neurol Genet 2018 Feb 24;4(1):e217. Epub 2018 Jan 24.

Département de Neuropédiatrie (A.R., B.E., P.M., F.R.), CHU Gui de Chauliac, Montpellier; Institut des Neurosciences de Montpellier (A.R., N.H., G.M., C.P.H.), INSERM U1051, Université de Montpellier; Service de Neuroradiologie (C.-J.R., N.L.), CHU Gui de Chauliac, Montpellier; Equipe MitoLab (M.C., G.L.), UMR CNRS 6015-INSERM 1083, Institut MitoVasc, University of Angers, France; Department of Medical Genetics (C. Goizet), Hopital Pellegrin, Bordeaux University Hospital; MRGM Laboratory (C. Goizet), INSERM U1211, University of Bordeaux; Laboratoire de Génétique Moléculaire (C. Guissart), CHU de Montpellier; U1046 INSERM (P.M., F.R.), UMR9214 CNRS, Université de Montpellier; Department of Neurology (C.M.), University Hospital Gui de Chauliac, Montpellier; Centre de Référence des Malformations et Maladies Congénitales du Cervelet (L.B.), Service de Génétique, Hôpital Armand Trousseau, AP-HP, Paris, France; Wellcome Trust Centre for Mitochondrial Research (R.H.), Institute of Genetic Medicine, Newcastle University, United Kingdom; and Centre of Reference for Genetic Sensory Diseases (C.P.H.), Montpellier, France.

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http://dx.doi.org/10.1212/NXG.0000000000000217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820597PMC
February 2018

LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.

Retin Cases Brief Rep 2017 Summer;11(3):221-226

*Maladies Sensorielles Génétiques, CHRU, Montpellier, France; †INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France; ‡Université Montpellier, Montpellier, France; §Laboratory of Genetics in Ophthalmology, INSERM UMR 1163, Paris, France; and ¶Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.

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http://dx.doi.org/10.1097/ICB.0000000000000326DOI Listing
January 2018

Cone dystrophy or macular dystrophy associated with novel autosomal dominant mutations.

Mol Vis 2017 3;23:198-209. Epub 2017 Apr 3.

Institut National de la Santé et de la Recherche Médicale, U1051, Institute for Neurosciences of Montpellier, Montpellier, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389339PMC
January 2018

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.

Hum Mol Genet 2017 09;26(18):3573-3584

Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France.

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http://dx.doi.org/10.1093/hmg/ddx244DOI Listing
September 2017

Pattern dystrophy in a female carrier of RP2 mutation.

Ophthalmic Genet 2016 12 17;37(4):453-455. Epub 2016 Feb 17.

a Genetics of Sensory Diseases, CHU , Montpellier , France.

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http://dx.doi.org/10.3109/13816810.2015.1081253DOI Listing
December 2016

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.

Ophthalmology 2016 10 26;123(10):2196-204. Epub 2016 Jul 26.

Institute for Neurosciences of Montpellier U1051, University of Montpellier - University Hospital, Genetics of Sensory Diseases, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.06.028DOI Listing
October 2016

Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism.

Eur J Dermatol 2016 Oct;26(5):496-498

Department of Biopathology, University Hospital, 80 av Augustin Fliche, 34295 Montpellier Cedex 5,, Tumorotheque of Biopathology, University Hospital, 80 av Augustin Fliche, 34295, Montpellier Cedex 5, France.

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http://dx.doi.org/10.1684/ejd.2016.2828DOI Listing
October 2016

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Ophthalmology 2016 09 7;123(9):1989-98. Epub 2016 Jul 7.

Maladies Sensorielles Génétiques, CHRU, Montpellier, France; INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France; Université Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.05.036DOI Listing
September 2016

Clinical Evaluation and Cone Alterations in Choroideremia.

Ophthalmology 2016 08 15;123(8):1830-1832. Epub 2016 Mar 15.

Genetics of Sensory Diseases, CHU de Montpellier, Montpellier, France; INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France; Université Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.02.025DOI Listing
August 2016

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Am J Hum Genet 2016 05 7;98(5):1011-1019. Epub 2016 Apr 7.

Department of Ophthalmology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Ophthalmology, University of Toronto, 340 College Street, Toronto, ON M5T 3A9, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867910PMC
May 2016

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Front Genet 2015 19;6:311. Epub 2015 Oct 19.

Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier Montpellier, France ; PREMMi, CNRS UMR 6214 - INSERM U1083, Département de Biochimie et Génétique, Université d'Angers, CHU d'Angers Angers, France.

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http://dx.doi.org/10.3389/fgene.2015.00311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4609881PMC
November 2015

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

Br J Ophthalmol 2015 Oct 16;99(10):1360-5. Epub 2015 Apr 16.

Maladies Sensorielles Génétiques, CHRU, Montpellier, France INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France Université Montpellier 1, Montpellier, France Université Montpellier 2, Montpellier, France.

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http://dx.doi.org/10.1136/bjophthalmol-2014-306224DOI Listing
October 2015

How can we prevent myopia progression?

Eur J Ophthalmol 2015 Jul-Aug;25(4):280-5. Epub 2015 Feb 3.

1 Department of Ophthalmology, Gui De Chauliac Hospital, Montpellier - France.

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http://dx.doi.org/10.5301/ejo.5000571DOI Listing
September 2015

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Am J Ophthalmol 2015 Aug 15;160(2):364-372.e1. Epub 2015 May 15.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2015.05.007DOI Listing
August 2015

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Hum Mol Genet 2015 Jul 21;24(14):3948-55. Epub 2015 Apr 21.

Institut des Neurosciences de Montpellier, Université de Montpellier I et II, BP 74103, 34 091 Montpellier Cedex 5, France, Service de Neuropédiatrie, CHU Gui de Chauliac, 34 295 Montpellier, France,

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http://dx.doi.org/10.1093/hmg/ddv133DOI Listing
July 2015

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient.

Mol Ther Methods Clin Dev 2014 2;1:14011. Epub 2014 Apr 2.

Inserm U1051, Institute for Neurosciences of Montpellier , Montpellier, France ; University of Montpellier 1 , Montpellier, France ; University of Montpellier 2 , Montpellier, France.

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http://dx.doi.org/10.1038/mtm.2014.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362346PMC
May 2015

[Genetic ocular diseases].

Rev Prat 2015 Apr;65(4):467-70

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April 2015

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

J Neurol Sci 2015 Feb 13;349(1-2):154-60. Epub 2015 Jan 13.

INSERM, U-1051, Institut des Neurosciences, Montpellier, France; CHU Montpellier, Centre of Reference for Genetic Sensory Diseases, Montpellier, France.

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http://dx.doi.org/10.1016/j.jns.2015.01.008DOI Listing
February 2015

A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.

PLoS One 2014 23;9(4):e95768. Epub 2014 Apr 23.

Inserm U1051, Institute for Neurosciences of Montpellier, Montpellier, France; University of Montpellier 1, Montpellier, France; University of Montpellier 2, Montpellier, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0095768PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3997432PMC
January 2015

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

Ophthalmology 2014 Dec 29;121(12):2406-14. Epub 2014 Jul 29.

Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, Montpellier, France; Montpellier University, Montpellier, France; Institute for Neurosciences, INSERM, Montpellier, France.

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http://dx.doi.org/10.1016/j.ophtha.2014.06.028DOI Listing
December 2014

[Inherited retinal dystrophies: contributions of molecular genetics].

Biol Aujourdhui 2013 10;207(2):73-85. Epub 2013 Oct 10.

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http://www.biologie-journal.org/10.1051/jbio/2013007
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http://dx.doi.org/10.1051/jbio/2013007DOI Listing
July 2014

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.

Mol Vis 2013 8;19:2487-500. Epub 2013 Dec 8.

INSERM U. 1051, Institute for Neurosciences of Montpellier, Montpellier, France ; Université Montpellier 1, Montpellier, France ; Université Montpellier 2, Montpellier, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3857159PMC
July 2014

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

J Med Genet 2014 Jul 15;51(7):444-8. Epub 2014 Apr 15.

Faculty of Science, Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2014-102316DOI Listing
July 2014

Gene discovery and prevalence in inherited retinal dystrophies.

C R Biol 2014 Mar 4;337(3):160-6. Epub 2014 Mar 4.

Inserm U.1051, institut des neurosciences de Montpellier, hôpital Saint-Éloi, BP 74103, 80, rue Augustin-Fliche, 34091 Montpellier cedex 5, France. Electronic address:

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http://dx.doi.org/10.1016/j.crvi.2013.12.001DOI Listing
March 2014

Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.

JAMA Ophthalmol 2013 Oct;131(10):1314-23

Genetics of Sensory Diseases, Centre Hospitalier Régional Universitaire de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1001/jamaophthalmol.2013.4476DOI Listing
October 2013

Choroideremia: towards a therapy.

Am J Ophthalmol 2013 Sep 28;156(3):433-437.e3. Epub 2013 Jun 28.

Department of Ophthalmology, University of Alberta, Edmonton, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2013.05.009DOI Listing
September 2013

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

Brain 2012 Dec;135(Pt 12):3599-613

Institut des Neurosciences de Montpellier, INSERM U1051, Université Montpellier I et II CHU St Eloi, 80, rue Auguste Fliche, 34091 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1093/brain/aws303DOI Listing
December 2012

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.

Eur J Ophthalmol 2012 Jul-Aug;22(4):647-53

INSERM 1051, Institute for Neurosciences of Montpellier, Montpellier, France.

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http://dx.doi.org/10.5301/ejo.5000096DOI Listing
October 2012

Simple and efficient: validation of a cotton wick electrode for animal electroretinography.

Ophthalmic Res 2011 4;45(4):174-9. Epub 2010 Nov 4.

Inserm U583, Institute for Neurosciences of Montpellier, CHU Saint-Eloi, Montpellier, France.

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http://dx.doi.org/10.1159/000321118DOI Listing
August 2011

Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants.

Ophthalmic Res 2011 23;45(3):155-63. Epub 2010 Sep 23.

Inserm U-583, Institut des Neurosciences de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1159/000313992DOI Listing
June 2011

Clinical utility gene card for: achromatopsia.

Eur J Hum Genet 2011 Jun 26;19(6). Epub 2011 Jan 26.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Tuebingen, Tuebingen, Germany.

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http://www.nature.com/articles/ejhg2010231
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http://dx.doi.org/10.1038/ejhg.2010.231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110037PMC
June 2011

Clinical utility gene card for: blue cone monochromatism.

Eur J Hum Genet 2011 Jun 26;19(6). Epub 2011 Jan 26.

Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Opthalmology, University Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2010.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110038PMC
June 2011

Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.

Ophthalmic Genet 2010 Dec;31(4):200-4

Genetics of Sensory Diseases, Hospital of Montpellier, Montpellier, France.

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http://dx.doi.org/10.3109/13816810.2010.512354DOI Listing
December 2010

Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.

Am J Ophthalmol 2009 Apr 1;147(4):609-20. Epub 2009 Feb 1.

Centre Hospitalier Régional et Universitaire, Centre de Référence Maladies Sensorielles Génétiques, Montpellier, France.

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http://dx.doi.org/10.1016/j.ajo.2008.10.022DOI Listing
April 2009

Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.

Am J Ophthalmol 2008 Jun 9;145(6):1099-106. Epub 2008 Apr 9.

Genetics of Sensory Diseases and Department of Ophthalmology, Hospital of Montpellier, Montpellier, France.

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http://dx.doi.org/10.1016/j.ajo.2008.02.004DOI Listing
June 2008

RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.

Ophthalmic Genet 2007 Mar;28(1):31-7

INSERM, Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, Montpellier, Cedex, France.

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http://dx.doi.org/10.1080/13816810701202052DOI Listing
March 2007

Cone rod dystrophies.

Orphanet J Rare Dis 2007 Feb 1;2. Epub 2007 Feb 1.

Inserm U. 583, Physiopathologie et thérapie des déficits sensoriels et moteurs, Institut des Neurosciences de Montpellier, BP 74103, 80 av, Augustin Fliche, 34091 Montpellier Cedex 05, France.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-7
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http://dx.doi.org/10.1186/1750-1172-2-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1808442PMC
February 2007

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

Invest Ophthalmol Vis Sci 2006 Nov;47(11):4719-24

INSERM Unité 583, Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, BP 74103, 80 rue Augustin Fliche, 34091 Montpellier Cedex 5, France.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.05-1488DOI Listing
November 2006

Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

Am J Ophthalmol 2006 Oct;142(4):702-4

Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, Montpellier Cedex 5, France.

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http://dx.doi.org/10.1016/j.ajo.2006.04.057DOI Listing
October 2006

Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.

Invest Ophthalmol Vis Sci 2005 Nov;46(11):4288-94

Institut National de la Santé et de la Recherche Médicale (INSERM) U583, Physiopathologie et Thérapie des Déficits Sensoriels et Moteurs, Institut des Neurosciences de Montpellier, Hôpital Saint Eloi, France.

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http://dx.doi.org/10.1167/iovs.03-1407DOI Listing
November 2005

Deafness and cochlear fibrocyte alterations in mice deficient for the inner ear protein otospiralin.

Mol Cell Biol 2005 Jan;25(2):847-53

INSERM U.583, Physiopathologie et Thérapie des Déficits Sensoriels et Moteurs, Institut des Neurosciences de Montpellier, Hôpital Saint-Eloi, BP 74103, 80, rue Augustin Fliche, 34295 Montpellier cedex 05, France.

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http://dx.doi.org/10.1128/MCB.25.2.847-853.2005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC543414PMC
January 2005

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.

BMC Genet 2003 May 7;4. Epub 2003 May 7.

Inserm U, 254 71, rue de Navacelles 34090, Montpellier, France.

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http://dx.doi.org/10.1186/1471-2156-4-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC156655PMC
May 2003

Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin.

Neurogenetics 2003 Apr 22;4(3):137-40. Epub 2003 Mar 22.

Physiopathologie et Thérapie des Déficits Sensoriels et Moteurs, INSERM U 583, 71 rue de Navacelles, 34090 Montpellier, France.

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http://link.springer.de/link/service/journals/10048/contents
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http://dx.doi.org/10.1007/s10048-003-0145-0DOI Listing
April 2003

Identification of preferentially expressed mRNAs in retina and cochlea.

DNA Cell Biol 2002 Nov;21(11):781-91

Laboratoire de Neurobiologie de l'Audition, Plasticité Synaptique 71, rue de Navacelles, 34090 Montpellier, France.

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http://www.liebertpub.com/doi/10.1089/104454902320908432
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http://dx.doi.org/10.1089/104454902320908432DOI Listing
November 2002

What similarity between human and fission yeast proteins is required for orthology?

Yeast 2002 Sep;19(13):1125-6

LBCMCP, CNRS UMR5088, IFR 109, Université Paul Sabatier, Bât. 4R3-B1, 118 Route de Narbonne, 31062 Toulouse Cedex, France.

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http://dx.doi.org/10.1002/yea.901DOI Listing
September 2002

The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space.

FEBS Lett 2002 Jul;523(1-3):171-6

Laboratoire de Biologie Cellulaire et Moléculaire du Contrôle de la Prolifération and Laboratoire de Biologie Moléculaire des Eucaryotes, IFR109, Université Paul Sabatier, 118 route de Narbonne, 31062 cedex 04, Toulouse, France.

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http://dx.doi.org/10.1016/s0014-5793(02)02985-xDOI Listing
July 2002

Downregulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness.

J Neurosci 2002 Mar;22(5):1718-25

Institut National de la Santé et de la Recherche Médicale U. 254, Laboratoire de Neurobiologie de l'Audition, 34090 Montpellier, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6758878PMC
March 2002

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

Mol Genet Metab 2002 Feb;75(2):97-107

Inserm U.254, Laboratoire de Neurobiologie de l'audition, 71, rue de Navacelles, 34090Montpellier, France.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920193278
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http://dx.doi.org/10.1006/mgme.2001.3278DOI Listing
February 2002