Brevets

« Préparation pharmaceutique pour le traitement préventif de lésions d'ischémie reperfusion » Déposants : CHU d'Angers et Université d'Angers. Inventeurs : Fabrice Prunier, Delphine Prunier, Juan Manuel Chao de la Barca, Reynier Pascal. Déposé le 6 octobre 2015 sous le numéro d'enregistrement national FR201502083 (15/02083). 

Publications

2016

The metabolomic signature of Leber 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, 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 C, Procaccio V, Reynier P. Brain 2016,  Sep 15. pii: aww222. [Epub ahead of print] PMID : 27633772/ IF: 10,4 

Specific Metabolome Profile of Exhaled Breath Condensate in Patients with Shock and Respiratory Failure: APilot Study. Fermier B, Blasco H, Godat E, Bocca C, Moënne-Loccoz J, Emond P, Andres CR, Laffon M, Ferrandière M. Metabolites. 2016 Sep 1;6(3). pii: E26. doi: 10.3390/metabo6030026. PMID: 27598216

Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. Signolet I, Chenouard R, Oca F, Barth M, Reynier P, Denis MC, Simard G. Pediatrics. 2016 Sep;138(3). PMID : 27581854 / IF : 6.2

High throughput gene complementation screening permits identification of a mammalian mitochondrial protein synthesis (ρ(-)) mutant. Potluri P, Procaccio V, Scheffler IE, Wallace DC. Biochim Biophys Acta. 2016 Aug;1857(8):1336-43. doi: 10.1016/j.bbabio.2016.02.021. Epub 2016 Mar 4. PMID:26946086 / IF: 5,1

Ovarian ageing: the role of mitochondria in oocytes and follicles. May-Panloup P, Boucret L, Chao de la Barca JM, Desquiret-Dumas V, Ferré-L'Hotellier V, Morinière C, Descamps P, Procaccio V, Reynier PHum Reprod Update. 2016 Aug 25. [Epub ahead of print] Review. PMID: 27562289 / IF : 10.8

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 Jul 7. pii: S0161-6420(16)30403-1. doi: 10.1016/j.ophtha.2016.05.036. [Epub ahead of print] PMID: 27395765 / IF: 6,1

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. 2016 Jul 1;126(7):2773. doi: 10.1172/JCI88179. Epub 2016 Jul 1. No abstract available. PMID: 27111236 / IF: 14

Optic Atrophy Type 1. Delettre-Cribaillet C, Hamel CP, Lenaers G. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 2007 Jul 13 [updated 2015 Nov 12]. PMID: 20301426 

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, Lenaers G, Müller A. Hum Mol Genet. 2016 ,Jun 3. pii: ddw117. [Epub ahead of print] PMID: 27260406 / IF: 6,9

Central Role of P2Y6 UDP Receptor in Arteriolar Myogenic Tone. Kauffenstein G, Tamareille S, Prunier F, Roy C, Ayer A, Toutain B, Billaud M, Isakson BE, Grimaud L, Loufrani L, Rousseau P, Abraham P, Procaccio V, Monyer H, de Wit C, Boeynaems JM, Robaye B, Kwak BR, Henrion D. Arterioscler Thromb Vasc Biol. 2016 Jun 2. pii: ATVBAHA.116.307739. [Epub ahead of print] PMID:27255725 / IF: 6,2

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss. Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A. Eur J Med Genet. 2016 Jun;59(6-7):325-9. PMID : 27169813 / IF: 1,6

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology. Chao de la Barca JM, Prunier-Mirebeau D, Amati-Bonneau P, Ferré M, Sarzi E, Bris C, Leruez S, Chevrollier A, Desquiret-Dumas V, Gueguen N, Verny C, Hamel C, Miléa D, Procaccio V, Bonneau D, Lenaers G, Reynier P. Neurobiol Dis. 2016 Jun;90:20-6. doi: 10.1016/j.nbd.2015.08.015. Epub 2015 Aug 23. PMID : 26311407 / IF: 5,3

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. Mercati O, Huguet G, Danckaert A, André-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RK, Walker S, Delépine M, Boland A, Régnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloëz-Tayarani I, Bourgeron T. Mol Psychiatry. 2016 May 10. doi: 10.1038/mp.2016.61. [Epub ahead of print] PMID: 27166760 / IF: 13,8

Estrogens are needed for the improvement in endothelium-mediated dilation induced by a chronic increase in blood flow in rat mesenteric arteries. Tarhouni K, Guihot AL, Vessieres E, Procaccio V, Grimaud L, Abraham P, Lenfant F, Arnal JF, Favre J, Loufrani L, Henrion D. Vascul Pharmacol. 2016 May;80:35-42. doi: 10.1016/j.vph.2015.10.004. Epub 2015 Oct 22. PMID:26471832 / IF: 3,0

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Isidor B, Küry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, Davies SJ, Lebel RR, Henderson A, Schaaf CP, Streff HE, Yang Y, Jain V, Chida N, Latypova X, Le Caignec C, Cogné B, Mercier S, Vincent M, Colin E, Bonneau D, Denommé AS, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Piton A, Dina C, Donnart A, Lindenbaum P, Charpentier E, Redon R, Iemura K, Ikeda M, Tanaka K, Bézieau S. Hum Mutat. 2016 Apr;37(4):354-8. doi: 10.1002/humu.22952. Epub 2016 Feb 4. PMID:26751395 / IF: 5,1

Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis. Millet AM, Bertholet AM, Daloyau M, Reynier P, Galinier A, Devin A, Wissinguer B, Belenguer P, Davezac N. Ann Clin Transl Neurol. 2016 Apr 25;3(6):408-21. PMID: 27547769 / IF : unknown

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. PMID: 27275396 / IF: 5,3

A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. Meunier I, Lenaers G, Bocquet B, Baudoin C, Piro-Megy C, Cubizolle A, Quilès M, Jean-Charles A, Cohen SY, Merle H, Gaudric A, Labesse G, Manes G, Péquignot M, Cazevieille C, Dhaenens CM, Fichard A, Ronkina N, Arthur SJ, Gaestel M, Hamel CP. Hum Mol Genet. 2016 Mar 1;25(5):916-26. doi: 10.1093/hmg/ddv624. Epub 2016 Jan 6. PMID: 26744326 / IF: 6,9

Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. Fradin M, Colin E, Hannouche-Bared D, Audo I, Sahel JA, Biskup S, Carré W, Ziegler A, Wilhelm C, Guichet A, Odent S, Bonneau D. Ophthalmic Genet. 2016 Feb 22:1-4. [Epub ahead of print]  PMID:26901671 / IF: 1,2

Remote ischemic conditioning influences mitochondrial dynamics. Cellier L, Tamareille S, Kalakech H, Guillou S, Lenaers G, Prunier F, Mirebeau-Prunier D. Shock. 2016 Feb;45(2):192-7. doi: 10.1097/SHK.0000000000000500. PMID: 26555744 / IF: 2,8

Resveratrol Improved Flow-Mediated Outward Arterial Remodeling in Ovariectomized Rats with Hypertrophic Effect at High Dose. Petit M, Guihot AL, Grimaud L, Vessieres E, Toutain B, Menet MC, Nivet-Antoine V, Arnal JF, Loufrani L, Procaccio V, Henrion D. PLoS One. 2016 Jan 6;11(1):e0146148. doi: 10.1371/journal.pone.0146148. eCollection 2016. PMID:26734763 / IF: 3,7

Theory of mind and empathy in preclinical and clinical Huntington's disease. Adjeroud N, Besnard J, El Massioui N, Verny C, Prudean A, Scherer C, Gohier B, Bonneau D, Allain P. Soc Cogn Affect Neurosci. 2016 Jan;11(1):89-99. doi: 10.1093/scan/nsv093. Epub 2015 Jul 25. PMID:26211015

2015

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family. Bakhchane A, Charoute H, Nahili H, Roky R, Rouba H, Charif M, Lenaers G, Barakat A. Gene. 2015 Dec 10;574(1):28-33. doi: 10.1016/j.gene.2015.07.075. Epub 2015 Jul 28. PMID: 26226225 / IF: 2,2

Infectious Diseases of High Consequence and Personal Protective Equipment: A Didactic Method to Assess the Risk of Contamination. Cassir N, Boudjema S, Roux V, Reynier P, Brouqui P. Infect Control Hosp Epidemiol. 2015 Dec;36(12):1485-6. doi: 10.1017/ice.2015.223. Epub 2015 Sep 21. No abstract available. PMID:26387990 / IF :unknown

Metabolomics Study of Urine in Autism Spectrum Disorders Using a Multiplatform Analytical Methodology. Diémé B, Mavel S, Blasco H, Tripi G, Bonnet-Brilhault F, Malvy J, Bocca C, Andres CR, Nadal-Desbarats L, Emond P. J Proteome Res. 2015 Dec 4;14(12):5273-82. doi: 10.1021/acs.jproteome.5b00699. Epub 2015 Nov 23. PMID: 26538324 / IF : 4.5

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I. Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14. PMID:26288984 / IF: 10,8

Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice. Gueguen N, Desquiret-Dumas V, Leman G, Chupin S, Baron S, Nivet-Antoine V, Vessières E, Ayer A, Henrion D, Lenaers G, Reynier P, Procaccio V. PLoS One. 2015 Dec 18;10(12):e0144290. doi: 10.1371/journal.pone.0144290. eCollection 2015. PMID: 26684010 / IF: 3,7

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population. Charoute H, Bakhchane A, Benrahma H, Romdhane L, Gabi K, Rouba H, Fakiri M, Abdelhak S, Lenaers G, Barakat A. Hum Mutat. 2015 Nov;36(11):E2441-53. doi: 10.1002/humu.22835. Epub 2015 Jul 30. PMID: 26173767 / IF: 5,1

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Erratum in: Am J Hum Genet. 2015 Nov 5;97(5):769. PMID: 26593267 / IF: 11,2

In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History. Colin E, Barth M, Boussion F, Latour P, Piguet-Lacroix G, Guichet A, Ziegler A, Triau S, Loisel D, Sentilhes L, Bonneau D. JIMD Rep. 2015 Nov 14. [Epub ahead of print] PMID: 26563327 / IF: 2,7

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability. Charif M, Roubertie A, Salime S, Mamouni S, Goizet C, Hamel CP, Lenaers G. Front Genet. 2015 Oct 19;6:311. doi: 10.3389/fgene.2015.00311. eCollection 2015. PMID: 26539208 / IF :unknown

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, Mousson de Camaret B, Lenaers G, Hamel CP. Am J Med Genet A. 2015 Oct;167A(10):2366-74. doi: 10.1002/ajmg.a.37188. Epub 2015 Jun 10. PMID: 26061759 / IF: 2,4

Reliable femoral frame construction based on MRI dedicated to muscles position follow-up. Dubois G, Bonneau D, Lafage V, Rouch P, Skalli W. Med Biol Eng Comput. 2015 Oct;53(10):921-8. doi: 10.1007/s11517-015-1302-y. Epub 2015 May 8. PMID:25952020 / IF: 2,0

Type I hyperlipidaemia caused by lipoprotein lipase deficiency in a nurseling: the role of the clinical laboratory in processing biological samples and contributing to the diagnosis and therapeutic follow-up of patients. Girard JM, Debailleul PA, Chaillou E, Benlian P, Larcher F, Simard G, Reynier P, Homedan C. Ann Biol Clin (Paris). 2015 Sep-Oct;73(5):581-6. doi: 10.1684/abc.2015.1075. PMID:26489817 / IF: 0,3

Lack of mitochondrial topoisomerase I (TOP1mt) impairs liver regeneration. Khiati S, Baechler SA, Factor VM, Zhang H, Huang SY, Dalla Rosa I, Sourbier C, Neckers L, Thorgeirsson SS, Pommier Y. Proc Natl Acad Sci U S A. 2015 Sep 8;112(36):11282-7. doi: 10.1073/pnas.1511016112. Epub 2015 Aug 24. PMID:26305952 / IF: 10,6

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. Bakhchane A, Charif M, Salime S, Boulouiz R, Nahili H, Roky R, Lenaers G, Barakat A. PLoS One. 2015 Sep 15;10(9):e0138072. doi: 10.1371/journal.pone.0138072. eCollection 2015. PMID: 26371875 / IF: 3,7

Sphingosine-1-Phosphate Signaling Regulates Myogenic Responsiveness in Human Resistance Arteries. Hui S, Levy AS, Slack DL, Burnstein MJ, Errett L, Bonneau D, Latter D, Rotstein OD, Bolz SS, Lidington D, Voigtlaender-Bolz J. PLoS One. 2015 Sep 14;10(9):e0138142. doi: 10.1371/journal.pone.0138142. eCollection 2015. PMID: 26367262 / IF: 3,7

Reliable protocol for shear wave elastography of lower limb muscles at rest and during passive stretching. Dubois G, Kheireddine W, Vergari C, Bonneau D, Thoreux P, Rouch P, Tanter M, Gennisson JL, Skalli W. Ultrasound Med Biol. 2015 Sep;41(9):2284-91. doi: 10.1016/j.ultrasmedbio.2015.04.020. Epub 2015 Jun 27. PMID:26129731 / IF: 2,6

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria. Homedan C, Schmitt C, Laafi J, Gueguen N, Desquiret-Dumas V, Lenglet H, Karim Z, Gouya L, Deybach JC, Simard G, Puy H, Malthièry Y, Reynier P. Hum Mol Genet. 2015 Sep 1;24 (17):5015-23. doi: 10.1093/hmg/ddv222. Epub 2015 Jun 12. PMID:26071363 / IF: 6,9

AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages. Six E, Lagresle-Peyrou C, Susini S, De Chappedelaine C, Sigrist N, Sadek H, Chouteau M, Cagnard N, Fontenay M, Hermine O, Chomienne C, Reynier P, Fischer A, André-Schmutz I, Gueguen N, Cavazzana M. Cell Death Dis. 2015 Aug 13;6:e1856. doi: 10.1038/cddis.2015.211. PMID:26270350 / IF: 5,3

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency. Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V. Int J Biochem Cell Biol. 2015 Aug;65:91-103. doi: 10.1016/j.biocel.2015.05.017. Epub 2015 May 27. PMID:26024641 /IF: 4,3

Hydrophilic Interaction (HILIC) and Reverse Phase Liquid Chromatography (RPLC) - High Resolution MS for characterizing lipids profile disruption in serum of anabolic implanted bovines. Judith K. Nzoughet, H. Gallart-Ayala, G. Biancotto, K. Hennig,G. Dervilly-Pinel,and B. Le Bizec. Metabolomics (2015) DOI 10.1007/s11306-015-0847-y. IF: 4

In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath. Gonzalez S, Fernando R, Berthelot J, Perrin-Tricaud C, Sarzi E, Chrast R, Lenaers G, Tricaud N. Mitochondrion. 2015 Jul;23:32-41. doi: 10.1016/j.mito.2015.05.004. Epub 2015 May 29. PMID: 26031781 / IF: 3,5

 Relationship between diminished ovarian reserve and mitochondrial biogenesis in cumulus cells. Boucret L, Chao de la Barca JM, Morinière C, Desquiret V, Ferré-L'Hôtellier V, Descamps P, Marcaillou C, Reynier P, Procaccio V, May-Panloup P. Hum Reprod. 2015 Jul;30(7):1653-64. doi: 10.1093/humrep/dev114. Epub 2015 May 20. PMID:25994667 / IF: 4,7

 Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A. Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21. PMID: 25901006 / IF: 6,9

A common variant near TGFBR3 is associated with primary open angle glaucoma. Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, Mani B, Chen LJ, Kee C, Garway-Heath DF, Sripriya S, Fuse N, Abu-Amero KK, Huang C, Namburi P, Burdon K, Perera SA, Gharahkhani P, Lin Y, Ueno M, Ozaki M, Mizoguchi T, Krishnadas SR, Osman EA, Lee MC, Chan AS, Tajudin LS, Do T, Goncalves A, Reynier P, Zhang H, Bourne R, Goh D, Broadway D, Husain R, Negi AK, Su DH, Ho CL, Blanco AA, Leung CK, Wong TT, Yakub A, Liu Y, Nongpiur ME, Han JC, Hon do N, Shantha B, Zhao B, Sang J, Zhang N, Sato R, Yoshii K, Panda-Jonas S, Ashley Koch AE, Herndon LW, Moroi SE, Challa P, Foo JN, Bei JX, Zeng YX, Simmons CP, Bich Chau TN, Sharmila PF, Chew M, Lim B, Tam PO, Chua E, Ng XY, Yong VH, Chong YF, Meah WY, Vijayan S, Seongsoo S, Xu W, Teo YY, Cooke Bailey JN, Kang JH, Haines JL, Cheng CY, Saw SM, Tai ES; ICAARE-Glaucoma Consortium; NEIGHBORHOOD Consortium, Richards JE, Ritch R, Gaasterland DE, Pasquale LR, Liu J, Jonas JB, Milea D, George R, Al-Obeidan SA, Mori K, Macgregor S, Hewitt AW, Girkin CA, Zhang M, Sundaresan P, Vijaya L, Mackey DA, Wong TY, Craig JE, Sun X, Kinoshita S, Wiggs JL, Khor CC, Yang Z, Pang CP, Wang N, Hauser MA, Tashiro K, Aung T, Vithana EN. Hum Mol Genet. 2015 Jul 1;24(13):3880-92. doi: 10.1093/hmg/ddv128. Epub 2015 Apr 10. PMID:25861811 / IF: 6,9

Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies. Lasserre JP, Dautant A, Aiyar RS, Kucharczyk R, Glatigny A, Tribouillard-Tanvier D, Rytka J, Blondel M, Skoczen N, Reynier P, Pitayu L, Rötig A, Delahodde A, Steinmetz LM, Dujardin G, Procaccio V, di Rago JP. Dis Model Mech. 2015 Jun;8(6):509-26. doi: 10.1242/dmm.020438. Review. PMID:26035862 / IF: 5,3

Dermatologic features of Smith-Magenis syndrome. Guérin-Moreau M, Colin E, Nguyen S, Andrieux J, de Leersnyder H, Bonneau D, Martin L. Pediatr Dermatol. 2015 May-Jun;32(3):337-41. doi: 10.1111/pde.12517. Epub 2015 Feb 12. PMID:25684097 / IF: 1,2

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S. PLoS Genet. 2015 Mar 25;11(3):e1005097. doi: 10.1371/journal.pgen.1005097. eCollection 2015 Mar. PMID:25807530 / IF: 8,6

A mitochondria-specific isoform of FASTK is present in mitochondrial RNA granules and regulates gene expression and function. Jourdain AA, Koppen M, Rodley CD, Maundrell K, Gueguen N, Reynier P, Guaras AM, Enriquez JA, Anderson P, Simarro M, Martinou JC. Cell Rep. 2015 Feb 24;10(7):1110-21. doi: 10.1016/j.celrep.2015.01.063. Epub 2015 Feb 19. PMID:25704814 / IF: 8,4

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction. Roubertie A, Leboucq N, Picot MC, Nogue E, Brunel H, Le Bars E, Manes G, Angebault Prouteau C, Blanchet C, Mondain M, Chevassus H, Amati-Bonneau P, Sarzi E, Pagès M, Villain M, Meunier I, Lenaers G, Hamel CP. J Neurol Sci. 2015 Feb 15;349(1-2):154-60. doi: 10.1016/j.jns.2015.01.008. Epub 2015 Jan 13. PMID: 25641387 / IF: 2,5

Metabolome and mass spectrometry: new biomedical analysis perspectives. Chao De La Barca JM, Mirebeau-Prunier D, Moal V, Reynier P, Garnotel R, Simard G. Ann Biol Clin (Paris). 2015 Jan-Feb;73(1):126-30. doi: 10.1684/abc.2014.1020. Review. French. PMID:25582729 / IF: 0,3

Mass spectrometry for steroid assays. Dufour-Rainfray D, Moal V, Cloix L, Mathieu E, Gauchez AS, Brossaud J, Corcuff JB, Fraissinet F, Collet C, Boux de Casson F, Guilloteau D, Emond P, Reynier P. Ann Biol Clin (Paris). 2015 Jan-Feb;73(1):70-8. doi: 10.1684/abc.2014.0988. Review. French. PMID:25582724 / IF: 0,3

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson JB, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche JP, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud DA, Ouallet JC, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Maréchal L, Derache N, Defer GL, Moreau T, Giroud M, Guennoc AM, Clavelou P, Taithe F, Mathis S, Neau JP, Magy L, Devoize JL, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Boespflug Tanguy O, Labauge P. Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19. PMID:25527826 / IF: 10,4

A phase II, open-label evaluation of cysteamine tolerability in patients with Huntington's disease. Prundean A, Youssov K, Humbert S, Bonneau D, Verny C. Mov Disord. 2015 Feb;30(2):288-9. doi: 10.1002/mds.26101. Epub 2014 Dec 5. No abstract available. PMID:25475049 / IF: 5,0

First insights into serum metabolomics of Revalor-XS® implanted bovines; Screening model to predict hormone-treated and control animals’ status. Judith K. Nzoughet, G. Dervilly-Pinel,S. Chéreau, G. Biancotto, F. Monteau,C. Elliott, and B. Le Bizec. Metabolomics (2015) DOI 10.1007/s11306-015-0775-x. IF: 4

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data. Ferré M, Caignard A, Milea D, Leruez S, Cassereau J, Chevrollier A, Amati-Bonneau P, Verny C, Bonneau D, Procaccio V, Reynier P. Hum Mutat. 2015 Jan;36(1):20-5. doi: 10.1002/humu.22703. Epub 2014 Dec 1. PMID:25243597 / IF: 5,1