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Items: 1 to 50 of 128

1.

Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted Fibroblasts.

Bocca C, Kane MS, Veyrat-Durebex C, Nzoughet JK, Chao de la Barca JM, Chupin S, Alban J, Procaccio V, Bonneau D, Simard G, Lenaers G, Reynier P, Chevrollier A.

J Proteome Res. 2019 Jul 5;18(7):2779-2790. doi: 10.1021/acs.jproteome.9b00081. Epub 2019 Jun 14.

PMID:
31199663
2.

Nicotinamide Deficiency in Primary Open-Angle Glaucoma.

Kouassi Nzoughet J, Chao de la Barca JM, Guehlouz K, Leruez S, Coulbault L, Allouche S, Bocca C, Muller J, Amati-Bonneau P, Gohier P, Bonneau D, Simard G, Milea D, Lenaers G, Procaccio V, Reynier P.

Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2509-2514. doi: 10.1167/iovs.19-27099.

PMID:
31185090
3.

Warburg-like effect is a hallmark of complex I assembly defects.

Desquiret-Dumas V, Leman G, Wetterwald C, Chupin S, Lebert A, Khiati S, Le Mao M, Geffroy G, Kane MS, Chevrollier A, Goudenege D, Gadras C, Tessier L, Barth M, Leruez S, Amati-Bonneau P, Henrion D, Bonneau D, Procaccio V, Reynier P, Lenaers G, Gueguen N.

Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2475-2489. doi: 10.1016/j.bbadis.2019.05.011. Epub 2019 May 20.

PMID:
31121247
4.

The Metabolomic Signature of Opa1 Deficiency in Rat Primary Cortical Neurons Shows Aspartate/Glutamate Depletion and Phospholipids Remodeling.

Chao de la Barca JM, Arrázola MS, Bocca C, Arnauné-Pelloquin L, Iuliano O, Tcherkez G, Lenaers G, Simard G, Belenguer P, Reynier P.

Sci Rep. 2019 Apr 15;9(1):6107. doi: 10.1038/s41598-019-42554-7.

5.

Phostine 3.1a as a pharmacological compound with antiangiogenic properties against diseases with excess vascularization.

Bousseau S, Marchand M, Soleti R, Vergori L, Hilairet G, Recoquillon S, Le Mao M, Gueguen N, Khiati S, Clarion L, Bakalara N, Martinez MC, Germain S, Lenaers G, Andriantsitohaina R.

FASEB J. 2019 May;33(5):5864-5875. doi: 10.1096/fj.201801450RRR. Epub 2019 Feb 28.

PMID:
30817178
6.

Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study.

Buisset A, Gohier P, Leruez S, Muller J, Amati-Bonneau P, Lenaers G, Bonneau D, Simard G, Procaccio V, Annweiler C, Milea D, Reynier P, Chao de la Barca JM.

J Proteome Res. 2019 Mar 1;18(3):1307-1315. doi: 10.1021/acs.jproteome.8b00915. Epub 2019 Feb 11.

PMID:
30701980
7.

Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms.

Veyrat-Durebex C, Bris C, Codron P, Bocca C, Chupin S, Corcia P, Vourc'h P, Hergesheimer R, Cassereau J, Funalot B, Andres CR, Lenaers G, Couratier P, Reynier P, Blasco H.

Mol Neurobiol. 2019 Aug;56(8):5780-5791. doi: 10.1007/s12035-019-1484-7. Epub 2019 Jan 24.

PMID:
30680691
8.

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing.

Bris C, Goudenege D, Desquiret-Dumas V, Charif M, Colin E, Bonneau D, Amati-Bonneau P, Lenaers G, Reynier P, Procaccio V.

Front Genet. 2018 Dec 11;9:632. doi: 10.3389/fgene.2018.00632. eCollection 2018. Review.

9.

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.

Felhi R, Sfaihi L, Charif M, Desquiret-Dumas V, Bris C, Goudenège D, Ammar-Keskes L, Hachicha M, Bonneau D, Procaccio V, Reynier P, Amati-Bonneau P, Lenaers G, Fakhfakh F.

Clin Chim Acta. 2019 Jan;488:104-110. doi: 10.1016/j.cca.2018.11.003. Epub 2018 Nov 3.

PMID:
30395865
10.

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.

Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V.

Genet Med. 2019 Jun;21(6):1407-1416. doi: 10.1038/s41436-018-0350-8. Epub 2018 Nov 5.

PMID:
30393377
11.

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.

Leruez S, Marill A, Bresson T, de Saint Martin G, Buisset A, Muller J, Tessier L, Gadras C, Verny C, Gohier P, Amati-Bonneau P, Lenaers G, Bonneau D, Simard G, Milea D, Procaccio V, Reynier P, Chao de la Barca JM.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4355-4361. doi: 10.1167/iovs.18-24938.

PMID:
30193307
12.

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P.

Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24. No abstract available.

PMID:
30143805
13.

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency.

Bocca C, Kane MS, Veyrat-Durebex C, Chupin S, Alban J, Kouassi Nzoughet J, Le Mao M, Chao de la Barca JM, Amati-Bonneau P, Bonneau D, Procaccio V, Lenaers G, Simard G, Chevrollier A, Reynier P.

Sci Rep. 2018 Aug 1;8(1):11528. doi: 10.1038/s41598-018-29972-9.

14.

Study of mitochondrial function in placental insufficiency.

Lefebvre T, Roche O, Seegers V, Cherif M, Khiati S, Gueguen N, Desquiret-Dumas V, Geffroy G, Blanchet O, Reynier P, Legendre G, Lenaers G, Procaccio V, Gascoin G.

Placenta. 2018 Jul;67:1-7. doi: 10.1016/j.placenta.2018.05.007. Epub 2018 May 17.

PMID:
29941168
15.

Glycosylation as new pharmacological strategies for diseases associated with excessive angiogenesis.

Bousseau S, Vergori L, Soleti R, Lenaers G, Martinez MC, Andriantsitohaina R.

Pharmacol Ther. 2018 Nov;191:92-122. doi: 10.1016/j.pharmthera.2018.06.003. Epub 2018 Jun 29. Review.

PMID:
29909237
16.

Reply: The expanding neurological phenotype of DNM1L-related disorders.

Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane S, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G.

Brain. 2018 Apr 1;141(4):e29. doi: 10.1093/brain/awy027. No abstract available.

PMID:
29529130
17.

Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum.

Kauffenstein G, Yegutkin GG, Khiati S, Pomozi V, Le Saux O, Leftheriotis G, Lenaers G, Henrion D, Martin L.

J Invest Dermatol. 2018 Aug;138(8):1862-1870. doi: 10.1016/j.jid.2018.02.023. Epub 2018 Mar 6.

18.

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

Roubertie A, Hieu N, Roux CJ, Leboucq N, Manes G, Charif M, Echenne B, Goizet C, Guissart C, Meyer P, Marelli C, Rivier F, Burglen L, Horvath R, Hamel CP, Lenaers G.

Neurol Genet. 2018 Jan 24;4(1):e217. doi: 10.1212/NXG.0000000000000217. eCollection 2018 Feb.

19.

Light action spectrum on oxidative stress and mitochondrial damage in A2E-loaded retinal pigment epithelium cells.

Marie M, Bigot K, Angebault C, Barrau C, Gondouin P, Pagan D, Fouquet S, Villette T, Sahel JA, Lenaers G, Picaud S.

Cell Death Dis. 2018 Feb 19;9(3):287. doi: 10.1038/s41419-018-0331-5.

20.

OPA1: How much do we know to approach therapy?

Del Dotto V, Fogazza M, Lenaers G, Rugolo M, Carelli V, Zanna C.

Pharmacol Res. 2018 May;131:199-210. doi: 10.1016/j.phrs.2018.02.018. Epub 2018 Feb 15. Review.

PMID:
29454676
21.

Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.

Leruez S, Verny C, Bonneau D, Procaccio V, Lenaers G, Amati-Bonneau P, Reynier P, Scherer C, Prundean A, Orssaud C, Zanlonghi X, Rougier MB, Tilikete C, Miléa D.

Orphanet J Rare Dis. 2018 Feb 17;13(1):33. doi: 10.1186/s13023-018-0773-y.

22.

The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome.

Geffroy G, Benyahia R, Frey S, Desquiret-Dumas V, Gueguen N, Bris C, Belal S, Inisan A, Renaud A, Chevrollier A, Henrion D, Bonneau D, Letournel F, Lenaers G, Reynier P, Procaccio V.

Biochim Biophys Acta Mol Basis Dis. 2018 May;1864(5 Pt A):1596-1608. doi: 10.1016/j.bbadis.2018.02.005. Epub 2018 Feb 14.

23.

A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines.

Leruez S, Bresson T, Chao de la Barca JM, Marill A, de Saint Martin G, Buisset A, Muller J, Tessier L, Gadras C, Verny C, Amati-Bonneau P, Lenaers G, Gohier P, Bonneau D, Simard G, Milea D, Procaccio V, Reynier P.

Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):1025-1032. doi: 10.1167/iovs.17-23055.

PMID:
29450546
24.

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

Sarzi E, Seveno M, Piro-Mégy C, Elzière L, Quilès M, Péquignot M, Müller A, Hamel CP, Lenaers G, Delettre C.

Sci Rep. 2018 Feb 6;8(1):2468. doi: 10.1038/s41598-018-20838-8.

25.

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders.

Bocca C, Kouassi Nzoughet J, Leruez S, Amati-Bonneau P, Ferré M, Kane MS, Veyrat-Durebex C, Chao de la Barca JM, Chevrollier A, Homedan C, Verny C, Miléa D, Procaccio V, Simard G, Bonneau D, Lenaers G, Reynier P.

Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):185-195. doi: 10.1167/iovs.17-23027.

PMID:
29340645
26.

Current mechanistic insights into the CCCP-induced cell survival response.

Kane MS, Paris A, Codron P, Cassereau J, Procaccio V, Lenaers G, Reynier P, Chevrollier A.

Biochem Pharmacol. 2018 Feb;148:100-110. doi: 10.1016/j.bcp.2017.12.018. Epub 2017 Dec 22. Review.

PMID:
29277693
27.

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia.

Bris C, Rouaud T, Desquiret-Dumas V, Gueguen N, Goudenege D, Barth M, Bonneau D, Amati-Bonneau P, Lenaers G, Reynier P, Lebre AS, Procaccio V.

Neurol Genet. 2017 Dec 11;3(6):e205. doi: 10.1212/NXG.0000000000000205. eCollection 2017 Dec. No abstract available.

28.

Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS.

Blasco H, Veyrat-Durebex C, Bocca C, Patin F, Vourc'h P, Kouassi Nzoughet J, Lenaers G, Andres CR, Simard G, Corcia P, Reynier P.

Sci Rep. 2017 Dec 15;7(1):17652. doi: 10.1038/s41598-017-17389-9.

29.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

30.

Metabolomics and Lipidomics Profiling of a Combined Mitochondrial Plus Endoplasmic Reticulum Fraction of Human Fibroblasts: A Robust Tool for Clinical Studies.

Veyrat-Durebex C, Bocca C, Chupin S, Kouassi Nzoughet J, Simard G, Lenaers G, Reynier P, Blasco H.

J Proteome Res. 2018 Jan 5;17(1):745-750. doi: 10.1021/acs.jproteome.7b00637. Epub 2017 Nov 14.

PMID:
29111762
31.

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.

Sarzi E, Seveno M, Angebault C, Milea D, Rönnbäck C, Quilès M, Adrian M, Grenier J, Caignard A, Lacroux A, Lavergne C, Reynier P, Larsen M, Hamel CP, Delettre C, Lenaers G, Müller A.

Hum Mol Genet. 2017 Dec 1;26(23):4764. doi: 10.1093/hmg/ddx376. No abstract available.

PMID:
29045675
32.

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G.

Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219.

PMID:
28969390
33.

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families.

Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute H, Kabine M, Snoussi K, Lenaers G, Barakat A.

Int J Pediatr Otorhinolaryngol. 2017 Oct;101:25-29. doi: 10.1016/j.ijporl.2017.07.024. Epub 2017 Jul 21.

PMID:
28964305
34.

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.

Bousfiha A, Bakhchane A, Charoute H, Detsouli M, Rouba H, Charif M, Lenaers G, Barakat A.

Mol Biol Rep. 2017 Oct;44(5):429-434. doi: 10.1007/s11033-017-4129-9. Epub 2017 Sep 26.

PMID:
28951997
35.

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

Del Dotto V, Mishra P, Vidoni S, Fogazza M, Maresca A, Caporali L, McCaffery JM, Cappelletti M, Baruffini E, Lenaers G, Chan D, Rugolo M, Carelli V, Zanna C.

Cell Rep. 2017 Jun 20;19(12):2557-2571. doi: 10.1016/j.celrep.2017.05.073.

36.

Neurotoxicity of Insecticides.

Cassereau J, Ferré M, Chevrollier A, Codron P, Verny C, Homedan C, Lenaers G, Procaccio V, May-Panloup P, Reynier P.

Curr Med Chem. 2017;24(27):2988-3001. doi: 10.2174/0929867324666170526122654. Review.

PMID:
28552054
37.

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A, Charif M, Bousfiha A, Boulouiz R, Nahili H, Rouba H, Charoute H, Lenaers G, Barakat A.

PLoS One. 2017 May 4;12(5):e0176516. doi: 10.1371/journal.pone.0176516. eCollection 2017.

38.

CLUH couples mitochondrial distribution to the energetic and metabolic status.

Wakim J, Goudenege D, Perrot R, Gueguen N, Desquiret-Dumas V, Chao de la Barca JM, Dalla Rosa I, Manero F, Le Mao M, Chupin S, Chevrollier A, Procaccio V, Bonneau D, Logan DC, Reynier P, Lenaers G, Khiati S.

J Cell Sci. 2017 Jun 1;130(11):1940-1951. doi: 10.1242/jcs.201616. Epub 2017 Apr 19.

39.

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.

Kane MS, Alban J, Desquiret-Dumas V, Gueguen N, Ishak L, Ferre M, Amati-Bonneau P, Procaccio V, Bonneau D, Lenaers G, Reynier P, Chevrollier A.

J Cell Mol Med. 2017 Oct;21(10):2284-2297. doi: 10.1111/jcmm.13149. Epub 2017 Apr 4.

40.

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies.

Gonzalez S, Berthelot J, Jiner J, Perrin-Tricaud C, Fernando R, Chrast R, Lenaers G, Tricaud N.

J Clin Invest. 2017 Mar 1;127(3):1115. doi: 10.1172/JCI92100. Epub 2017 Mar 1. No abstract available.

41.

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

Chao de la Barca JM, Simard G, Sarzi E, Chaumette T, Rousseau G, Chupin S, Gadras C, Tessier L, Ferré M, Chevrollier A, Desquiret-Dumas V, Gueguen N, Leruez S, Verny C, Miléa D, Bonneau D, Amati-Bonneau P, Procaccio V, Hamel C, Lenaers G, Reynier P, Prunier-Mirebeau D.

Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):812-820. doi: 10.1167/iovs.16-21116.

PMID:
28159969
42.

A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning.

Kouassi Nzoughet J, Bocca C, Simard G, Prunier-Mirebeau D, Chao de la Barca JM, Bonneau D, Procaccio V, Prunier F, Lenaers G, Reynier P.

Anal Chem. 2017 Feb 7;89(3):2138-2146. doi: 10.1021/acs.analchem.6b04912. Epub 2017 Jan 6.

PMID:
27992159
43.

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

Frey S, Geffroy G, Desquiret-Dumas V, Gueguen N, Bris C, Belal S, Amati-Bonneau P, Chevrollier A, Barth M, Henrion D, Lenaers G, Bonneau D, Reynier P, Procaccio V.

Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):284-291. doi: 10.1016/j.bbadis.2016.10.028. Epub 2016 Nov 1.

44.

Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model.

Le Page S, Niro M, Fauconnier J, Cellier L, Tamareille S, Gharib A, Chevrollier A, Loufrani L, Grenier C, Kamel R, Sarzi E, Lacampagne A, Ovize M, Henrion D, Reynier P, Lenaers G, Mirebeau-Prunier D, Prunier F.

PLoS One. 2016 Oct 10;11(10):e0164066. doi: 10.1371/journal.pone.0164066. eCollection 2016.

45.

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

Codron P, Chevrollier A, Kane MS, Echaniz-Laguna A, Latour P, Reynier P, Bonneau D, Verny C, Procaccio V, Lenaers G, Cassereau J.

J Peripher Nerv Syst. 2016 Dec;21(4):365-369. doi: 10.1111/jns.12192.

PMID:
27706887
46.

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

Chao de la Barca JM, Simard G, Amati-Bonneau P, Safiedeen Z, Prunier-Mirebeau D, Chupin S, Gadras C, Tessier L, Gueguen N, Chevrollier A, Desquiret-Dumas V, Ferré M, Bris C, Kouassi Nzoughet J, Bocca C, Leruez S, Verny C, Miléa D, Bonneau D, Lenaers G, Martinez MC, Procaccio V, Reynier P.

Brain. 2016 Nov 1;139(11):2864-2876. doi: 10.1093/brain/aww222.

PMID:
27633772
47.

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium, Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D.

Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18.

48.

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

Jean-Charles A, Merle H, Audo I, Desoudin C, Bocquet B, Baudoin C, Sidibe M, Mauget-Faÿsse M, Wolff B, Fichard A, Lenaers G, Sahel JA, Gaudric A, Cohen SY, Hamel CP, Meunier I.

Ophthalmology. 2016 Oct;123(10):2196-204. doi: 10.1016/j.ophtha.2016.06.028. Epub 2016 Jul 26.

PMID:
27474146
49.

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

Grenier J, Meunier I, Daien V, Baudoin C, Halloy F, Bocquet B, Blanchet C, Delettre C, Esmenjaud E, Roubertie A, Lenaers G, Hamel CP.

Ophthalmology. 2016 Sep;123(9):1989-98. doi: 10.1016/j.ophtha.2016.05.036. Epub 2016 Jul 7.

PMID:
27395765
50.

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.

Buret L, Rebillard G, Brun E, Angebault C, Pequignot M, Lenoir M, Do-Cruzeiro M, Tournier E, Cornille K, Saleur A, Gueguen N, Reynier P, Amati-Bonneau P, Barakat A, Blanchet C, Chinnery P, Yu-Wai-Man P, Kaplan J, Roux AF, Van Camp G, Wissinger B, Boespflug-Tanguy O, Giraudet F, Puel JL, Lenaers G, Hamel C, Delprat B, Delettre C.

Cell Death Discov. 2016 Mar 7;2:16017.

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