Christian Hamel

INSERM U1051, Institut of Neurosciences of Montpellier

Affiliated withINSERM U1051, Institut of Neurosciences of Montpellier University of Montpellier CHU Gui de Chauliac Hospital

Research Area

Neuroscience

Biography

Christian Hamel has not added Biography.
If you are Christian Hamel and would like to personalize this page please email our Author Liaison for assistance.

JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 13	2017

Other Publications

Article	Year
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Molecular genetics and metabolism\| PubMed ID: 11855928	2002
Downregulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 11880501	2002
Nonoperative treatment of splenic rupture in malaria tropica: review of literature and case report. Acta tropica\| PubMed ID: 11904097	2002
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS letters\| PubMed ID: 12123827	2002
What similarity between human and fission yeast proteins is required for orthology? Yeast (Chichester, England)\| PubMed ID: 12237853	2002
Laparoscopically assisted hemicolectomy for Crohn's disease: are we still getting better? The American surgeon\| PubMed ID: 12467325	2002
Identification of preferentially expressed mRNAs in retina and cochlea. DNA and cell biology\| PubMed ID: 12489989	2002
The ABCA4 gene in autosomal recessive cone-rod dystrophies. American journal of human genetics\| PubMed ID: 12515255	2002
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. BMC genetics\| PubMed ID: 12515581	2003
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Human molecular genetics\| PubMed ID: 12588794	2003
Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin. Neurogenetics\| PubMed ID: 12687421	2003
A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. American journal of ophthalmology\| PubMed ID: 12719097	2003
Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus. BMC genetics\| PubMed ID: 12735796	2003
Identification of sentinel lymph nodes in colon cancer depends on the amount of dye injected relative to tumor size. World journal of surgery\| PubMed ID: 14595521	2003
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. The Journal of investigative dermatology\| PubMed ID: 14708629	2003
Simplified placement and management of cutting setons in the treatment of transsphincteric anal fistula: technical note. International journal of colorectal disease\| PubMed ID: 14762677	2004
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Human mutation\| PubMed ID: 14961560	2003
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosi... Human mutation\| PubMed ID: 15024725	2004
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. Ophthalmology\| PubMed ID: 15288992	2004
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. American journal of human genetics\| PubMed ID: 15322982	2004
Deafness and cochlear fibrocyte alterations in mice deficient for the inner ear protein otospiralin. Molecular and cellular biology\| PubMed ID: 15632083	2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. European journal of human genetics : EJHG\| PubMed ID: 15770229	2005
Novel mutations in MYO7A and USH2A in Usher syndrome. Ophthalmic genetics\| PubMed ID: 15823922	2005
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Annals of neurology\| PubMed ID: 16240368	2005
Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network. Investigative ophthalmology & visual science\| PubMed ID: 16249510	2005
Carbon dye staining of sentinel lymph nodes facilitates microstaging of colon cancer patients. World journal of surgery\| PubMed ID: 16479343	2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature genetics\| PubMed ID: 16582908	2006
Mitochondrial dynamics and disease, OPA1. Biochimica et biophysica acta\| PubMed ID: 16737747	2006
Glucagon-like peptide-1 is involved in sodium and water homeostasis in humans. Digestion\| PubMed ID: 16809911	2006
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Human mutation\| PubMed ID: 16969763	2007
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. American journal of ophthalmology\| PubMed ID: 17011878	2006
Retinitis pigmentosa. Orphanet journal of rare diseases\| PubMed ID: 17032466	2006
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Investigative ophthalmology & visual science\| PubMed ID: 17065479	2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. American journal of human genetics\| PubMed ID: 17160889	2007
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. Journal of cellular physiology\| PubMed ID: 17167772	2007
Cone rod dystrophies. Orphanet journal of rare diseases\| PubMed ID: 17270046	2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Human mutation\| PubMed ID: 17405132	2007
RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases. Ophthalmic genetics\| PubMed ID: 17454745	2007
Gene therapeutic prospects in early onset of severe retinal dystrophy: restoration of vision in RPE65 Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigment... Bulletin et memoires de l'Academie royale de medecine de Belgique\| PubMed ID: 17503728	2006
The ocular anomalies in a cystinosis animal model mimic disease pathogenesis. Pediatric research\| PubMed ID: 17597652	2007
Assessment of construct validity of a virtual reality laparoscopy simulator. Journal of laparoendoscopic & advanced surgical techniques. Part A\| PubMed ID: 17705717	2007
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. American journal of human genetics\| PubMed ID: 17924349	2007
Multislice CT in adult colocolic intussusception: case report and review of the literature. Emergency radiology\| PubMed ID: 18004598	2008
Reversible optic neuropathy with OPA1 exon 5b mutation. Annals of neurology\| PubMed ID: 18360822	2008
Influence of thoracic epidural analgesia on postoperative pain relief and ileus after laparoscopic colorectal resection : Benefit with epidural analgesia. Surgical endoscopy\| PubMed ID: 18363059	2009
Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. American journal of ophthalmology\| PubMed ID: 18400204	2008
The future of patient safety: Surgical trainees accept virtual reality as a new training tool. Patient safety in surgery\| PubMed ID: 18544173	2008
Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity. American journal of ophthalmology\| PubMed ID: 19181301	2009
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. American journal of human genetics\| PubMed ID: 19200527	2009
Early versus delayed cholecystectomy in patients with biliary acute pancreatitis. Surgery\| PubMed ID: 19231577	2009
Ileal intussusception due to visceral malignant melanoma metastasis. Surgery\| PubMed ID: 19231589	2009
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Human mutation\| PubMed ID: 19319978	2009
OPA1 functions in mitochondria and dysfunctions in optic nerve. The international journal of biochemistry & cell biology\| PubMed ID: 19389483	2009
Genotyping microarray for CSNB-associated genes. Investigative ophthalmology & visual science\| PubMed ID: 19578023	2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. American journal of human genetics\| PubMed ID: 19896113	2009
[Fecal incontinence]. Therapeutische Umschau. Revue therapeutique\| PubMed ID: 20052654	2010
Electrophysiological retinal pigment epithelium changes observed with indocyanine green, trypan blue and triamcinolone. Ophthalmic research\| PubMed ID: 20130442	2010
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Investigative ophthalmology & visual science\| PubMed ID: 20164459	2010
Should transcobalamin deficiency be treated aggressively? Journal of inherited metabolic disease\| PubMed ID: 20352340	2010
FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase. The Journal of biological chemistry\| PubMed ID: 20356843	2010
Characterization of Ca2+ signalling in postnatal mouse retinal ganglion cells: involvement of OPA1 in Ca2+ clearance. Ophthalmic genetics\| PubMed ID: 20450306	2010
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. European journal of human genetics : EJHG\| PubMed ID: 20461111	2010
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel. Human mutation\| PubMed ID: 20506298	2010
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. Human mutation\| PubMed ID: 20513143	2010
Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants. Ophthalmic research\| PubMed ID: 20861657	2011
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clinical journal of the American Society of Nephrology : CJASN\| PubMed ID: 20876674	2011
[From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders]. Medecine sciences : M/S\| PubMed ID: 20929674	2010
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome research\| PubMed ID: 20974897	2011
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. European journal of medical genetics\| PubMed ID: 21044901	2011
Simple and efficient: validation of a cotton wick electrode for animal electroretinography. Ophthalmic research\| PubMed ID: 21051915	2011
Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations. Ophthalmic genetics\| PubMed ID: 21067480	2010
Clinical utility gene card for: achromatopsia. European journal of human genetics : EJHG\| PubMed ID: 21267001	2011
Clinical utility gene card for: blue cone monochromatism. European journal of human genetics : EJHG\| PubMed ID: 21267011	2011
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology\| PubMed ID: 21269699	2011
Four-year follow-up of diagnostic service in USH1 patients. Investigative ophthalmology & visual science\| PubMed ID: 21436283	2011
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. BMC medical genetics\| PubMed ID: 21496248	2011
Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations. Molecular vision\| PubMed ID: 21617751	2011
Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene. European journal of ophthalmology\| PubMed ID: 21623591	2012
Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families. European journal of human genetics : EJHG\| PubMed ID: 21792230	2011
Performance on a virtual reality angled laparoscope task correlates with spatial ability of trainees. The Indian journal of surgery\| PubMed ID: 21938197	2010
Dantrolene for severe rhabdomyolysis in Staphylococcus aureus toxic shock syndrome. European journal of anaesthesiology\| PubMed ID: 21968638	2012
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Human mutation\| PubMed ID: 22009552	2012
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. Human mutation\| PubMed ID: 22052604	2012
Non-USH2A mutations in USH2 patients. Human mutation\| PubMed ID: 22147658	2012
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa. European journal of ophthalmology\| PubMed ID: 22180149	2012
Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma. Molecular vision\| PubMed ID: 22219649	2011
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American journal of human genetics\| PubMed ID: 22325361	2012
Dominant optic atrophy. Orphanet journal of rare diseases\| PubMed ID: 22776096	2012
Characterization of pupil responses to blue and red light stimuli in autosomal dominant retinitis pigmentosa due to NR2E3 mutation. Investigative ophthalmology & visual science\| PubMed ID: 22807301	2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nature genetics\| PubMed ID: 22842229	2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Archives of ophthalmology\| PubMed ID: 23143442	2012
Fatp1 deficiency affects retinal light response and dark adaptation, and induces age-related alterations. PloS one\| PubMed ID: 23166839	2012
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. American journal of human genetics\| PubMed ID: 23246293	2013
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. Brain : a journal of neurology\| PubMed ID: 23250881	2012
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic epidemiology\| PubMed ID: 23350551	2013
Sensorineural hearing loss in OPA1-linked disorders. Brain : a journal of neurology\| PubMed ID: 23384603	2013
Clinical utility gene card for: Achromatopsia - update 2013. European journal of human genetics : EJHG\| PubMed ID: 23486539	2013
Choroideremia: towards a therapy. American journal of ophthalmology\| PubMed ID: 23810476	2013
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. JAMA ophthalmology\| PubMed ID: 23929416	2013
Mutations in IMPG1 cause vitelliform macular dystrophies. American journal of human genetics\| PubMed ID: 23993198	2013
[Inherited retinal dystrophies: contributions of molecular genetics]. Biologie aujourd'hui\| PubMed ID: 24103338	2013
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. Human molecular genetics\| PubMed ID: 24163243	2014
Long-term follow-up of a randomized controlled trial of Lichtenstein's operation versus mesh plug repair for inguinal hernia. Annals of surgery\| PubMed ID: 24169195	2014
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. American journal of medical genetics. Part A\| PubMed ID: 24311531	2014
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations. Molecular vision\| PubMed ID: 24339724	2013
Gene discovery and prevalence in inherited retinal dystrophies. Comptes rendus biologies\| PubMed ID: 24702842	2014
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. Journal of medical genetics\| PubMed ID: 24737827	2014
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\| PubMed ID: 24760071	2014
Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice. PloS one\| PubMed ID: 24823368	2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Human mutation\| PubMed ID: 24944099	2014
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. Molecular vision\| PubMed ID: 24959063	2014
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. Ophthalmology\| PubMed ID: 25085631	2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. American journal of ophthalmology\| PubMed ID: 25447119	2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. Molecular genetics & genomic medicine\| PubMed ID: 25629076	2015
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction. Journal of the neurological sciences\| PubMed ID: 25641387	2015
How can we prevent myopia progression? European journal of ophthalmology\| PubMed ID: 25655598	2015
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. The British journal of ophthalmology\| PubMed ID: 25883087	2015
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. Human molecular genetics\| PubMed ID: 25901006	2015
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. American journal of ophthalmology\| PubMed ID: 25982971	2015
Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient. Molecular therapy. Methods & clinical development\| PubMed ID: 26015956	2014
[Genetic ocular diseases]. La Revue du praticien\| PubMed ID: 26058181	2015
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. American journal of medical genetics. Part A\| PubMed ID: 26061759	2015
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology. Neurobiology of disease\| PubMed ID: 26311407	2016
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability. Frontiers in genetics\| PubMed ID: 26539208	2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. American journal of human genetics\| PubMed ID: 26593267	2015
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations. Human mutation\| PubMed ID: 26629787	2016
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. Human molecular genetics\| PubMed ID: 26744326	2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. PloS one\| PubMed ID: 26766544	2016
Pattern dystrophy in a female carrier of RP2 mutation. Ophthalmic genetics\| PubMed ID: 26885761	2016
Clinical Evaluation and Cone Alterations in Choroideremia. Ophthalmology\| PubMed ID: 26992839	2016
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. American journal of human genetics\| PubMed ID: 27063057	2016
Phloroglucinol protects retinal pigment epithelium and photoreceptor against all-trans-retinal-induced toxicity and inhibits A2E formation. Journal of cellular and molecular medicine\| PubMed ID: 27072643	2016
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. American journal of medical genetics. Part A\| PubMed ID: 27103084	2016
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. Retinal cases & brief reports\| PubMed ID: 27203561	2017
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy. Human molecular genetics\| PubMed ID: 27260406	2016
Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial. Ophthalmology\| PubMed ID: 27320518	2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. Scientific reports\| PubMed ID: 27339364	2016
Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism. European journal of dermatology : EJD\| PubMed ID: 27344970	2016
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. Ophthalmology\| PubMed ID: 27395765	2016
Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights. Ophthalmology\| PubMed ID: 27474146	2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. American journal of human genetics\| PubMed ID: 27486781	2016
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene. Scientific reports\| PubMed ID: 27601084	2016
Adaptive optics: a tool for screening hydroxychloroquine-induced maculopathy? Acta ophthalmologica\| PubMed ID: 27805308	2017
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice. Investigative ophthalmology & visual science\| PubMed ID: 28159969	2017
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. Investigative ophthalmology & visual science\| PubMed ID: 28159970	2017
LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells. Investigative ophthalmology & visual science\| PubMed ID: 28334377	2017
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family. Molecular vision\| PubMed ID: 28356705	2017
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. Human molecular genetics\| PubMed ID: 28365780	2017
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations. Molecular vision\| PubMed ID: 28442884	2017
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. Pigment cell & melanoma research\| PubMed ID: 28640947	2017
Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retina. PloS one\| PubMed ID: 28672005	2017
Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials. Ophthalmic research\| PubMed ID: 28697496	2017