Publications by authors named "Xavier Zanlonghi"

34Publications

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

Neurol Genet 2020 Jun 20;6(3):e428. Epub 2020 May 20.

MitoLab Team (M.C., A.C., C.B., D.G., V.D.-D., S.L., V.P., P.R., D.B., P.A.-B., G.L.), UMR CNRS 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital; Genetics and immuno-cell therapy Team (M.C.), Mohammed First University, Oujda, Morocco; Departments of Biochemistry and Genetics (C.B., D.G., V.D.-D., E.C., V.P., P.R., D.B., P.A.-B.), University Hospital Angers; Department of Ophthalmology (A.M.), Centre Hospitalier Universitaire Saint-Pierre, Brussels, Belgium; Neuroophthalmology Department (C.V.), Rothschild Ophthalmologic Foundation, Paris; Exploration of Visual Function and Neuro-Ophthalmology Department (V.S., S.D.-D., I.D.B.), Lille University Hospital, Rue Emilie Laine, Lille Cedex; CHU Bordeaux (C.G.), Service de Génétique Médicale, Centre de Référence « Neurogénétique » and Université de Bordeaux, INSERM U 1211, Laboratoire Maladies Rares, Génétique et Métabolisme (MRGM) Bordeaux; School of Optometry and Vision Sciences (M.V.), Cardiff University and Cardiff Eye Unit, University Hospital of Wales; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology (N.J., P.Y.-W.-M.), London; Department of Clinical Neurosciences (P.Y.-W.-M.), Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, University of Cambridge; Cambridge Eye Unit (P.Y.-W.-M.), Addenbrooke's Hospital, Cambridge University Hospitals, UK; IRCCS Istituto Delle Scienze Neurologiche di Bologna (F.T., L.C., C.L.M., V.C.), Bellaria Hospital; Unit of Neurology (C.L.M., V.C.), Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy; Centre de Compétence Maladies Rares (X.Z.), Clinique Pluridisciplinaire Jules Verne, Nantes; and National Centre in Rare Diseases (I.M.), Genetics of Sensory Diseases, University Hospital, Montpellier, France.

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http://dx.doi.org/10.1212/NXG.0000000000000428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251510PMC
June 2020

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Genet Med 2020 Jul 20;22(7):1235-1246. Epub 2020 Apr 20.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-020-0787-4DOI Listing
July 2020

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

Hum Mutat 2019 01 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

MERTK mutation update in inherited retinal diseases.

Hum Mutat 2018 07 23;39(7):887-913. Epub 2018 May 23.

Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.

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http://dx.doi.org/10.1002/humu.23431DOI Listing
July 2018

Compound heterozygosity for severe and hypomorphic mutations cause non-syndromic LHON-like optic neuropathy.

J Med Genet 2017 05 28;54(5):346-356. Epub 2016 Dec 28.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-104212DOI Listing
May 2017

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

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

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

[Antimalarial's retinopaty remains a current threat].

Presse Med 2009 Apr 9;38(4):662-3. Epub 2009 Jan 9.

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http://dx.doi.org/10.1016/j.lpm.2008.11.010DOI 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

[Visual acuity and work and leisure abilities].

Rev Prat 2006 Jun;56(11):1232-9

Laboratoire d'explorations fonctionnelles de la vision, clinique Sourdille, Nantes.

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June 2006