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Items: 1 to 20 of 276

1.

Iron deficiency without anemia is responsible for decreased left ventricular function and reduced mitochondrial complex I activity in a mouse model.

Rineau E, Gaillard T, Gueguen N, Procaccio V, Henrion D, Prunier F, Lasocki S.

Int J Cardiol. 2018 Sep 1;266:206-212. doi: 10.1016/j.ijcard.2018.02.021.

PMID:
29887449
2.

Primary antiphospholipid syndrome and antiphospholipid syndrome associated to systemic lupus: Are they different entities?

Belizna C, Stojanovitch L, Tervaert JWC, Fassot C, Henrion D, Loufrani L, Nagy G, Muchardt C, Hasan M, Ungeheuer MN, Arnaud L, Reig JA, Valverde EE, Nicoletti F, Saulnier P, Godon A, Reynier P, Chrétien JM, Damian L, Omarjee L, Mahé G, Pistorius MA, Meroni PL, Devreese K.

Autoimmun Rev. 2018 Jun 6. pii: S1568-9972(18)30138-1. doi: 10.1016/j.autrev.2018.01.027. [Epub ahead of print] Review.

PMID:
29885541
3.

Mitochondrial complex I defect resulting from exercise-induced lower-limb ischemia in patients with peripheral arterial disease.

Signolet I, Abraham P, Chupin S, Ammi M, Gueguen N, Letournel F, Picquet J, Baufreton C, Daligault M, Procaccio V, Reynier P, Henni S.

J Appl Physiol (1985). 2018 May 24. doi: 10.1152/japplphysiol.00059.2018. [Epub ahead of print]

PMID:
29792553
4.

Updated review of postmortem biochemical exploration of hypothermia with a presentation of standard strategy of sampling and analyses.

Rousseau G, Reynier P, Jousset N, Rougé-Maillart C, Palmiere C.

Clin Chem Lab Med. 2018 May 1. pii: /j/cclm.ahead-of-print/cclm-2018-0153/cclm-2018-0153.xml. doi: 10.1515/cclm-2018-0153. [Epub ahead of print]

PMID:
29715177
5.

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
6.

Obesity-induced metabolic disturbance drives oxidative stress and complement activation in the retinal environment.

Natoli R, Fernando N, Dahlenburg T, Jiao H, Aggio-Bruce R, Barnett NL, Chao de la Barca JM, Tcherkez G, Reynier P, Fang J, Chu-Tan JA, Valter K, Provis J, Rutar M.

Mol Vis. 2018 Mar 7;24:201-217. eCollection 2018.

7.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.

Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6.

PMID:
29511999
8.

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

Moortgat S, Lederer D, Deprez M, Buzatu M, Clapuyt P, Boulanger S, Benoit V, Mary S, Guichet A, Ziegler A, Colin E, Bonneau D, Maystadt I.

Eur J Med Genet. 2018 Mar 3. pii: S1769-7212(17)30666-3. doi: 10.1016/j.ejmg.2018.03.002. [Epub ahead of print] Review.

PMID:
29510240
9.

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.

Ebran JM, Martin L, Leftheriotis, Navasiolava N, Ferre M, Milea D, Leruez S.

Graefes Arch Clin Exp Ophthalmol. 2018 Apr;256(4):699-707. doi: 10.1007/s00417-018-3937-5. Epub 2018 Feb 26.

PMID:
29480367
10.

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.

11.

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. 2018 May;1864(5 Pt A):1596-1608. doi: 10.1016/j.bbadis.2018.02.005. Epub 2018 Feb 14.

PMID:
29454073
12.

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
13.

How Can a Ketogenic Diet Improve Motor Function?

Veyrat-Durebex C, Reynier P, Procaccio V, Hergesheimer R, Corcia P, Andres CR, Blasco H.

Front Mol Neurosci. 2018 Jan 26;11:15. doi: 10.3389/fnmol.2018.00015. eCollection 2018. Review.

14.

Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions.

Codron P, Cassereau J, Vourc'h P, Veyrat-Durebex C, Blasco H, Kane S, Procaccio V, Letournel F, Verny C, Lenaers G, Reynier P, Chevrollier A.

Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):446-456. doi: 10.1080/21678421.2018.1431787. Epub 2018 Jan 31. Erratum in: Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):477.

PMID:
29382228
15.

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
16.

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
17.

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.

18.

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.

19.

Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.

Sonney S, Leipzig J, Lott MT, Zhang S, Procaccio V, Wallace DC, Sondheimer N.

PLoS Comput Biol. 2017 Dec 11;13(12):e1005867. doi: 10.1371/journal.pcbi.1005867. eCollection 2017 Dec.

20.

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.

PMID:
29181510

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