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Quantitative Methods [q-bio.QM] Human genetics



Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria

Arnaud Chevrollier , Adeline Alice Bonnard , Lyse Ruaud , Naïg Gueguen , Laurence Perrin
Brain - A Journal of Neurology , 2024, 147 (1), pp.91-99. ⟨10.1093/brain/awad347⟩
Journal articles hal-04454759v1
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Super-resolution microscopies, technological breakthrough to decipher mitochondrial structure and dynamic.

Pauline Teixeira , Rémi Galland , Arnaud Chevrollier
Seminars in Cell and Developmental Biology, 2024, 159-160, pp.38-51. ⟨10.1016/j.semcdb.2024.01.006⟩
Journal articles hal-04455163v1
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Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria

Arnaud Chevrollier , Adeline Alice Bonnard , Lyse Ruaud , Naïg Gueguen , Laurence Perrin
Brain - A Journal of Neurology , 2024, 147 (1), pp.91 - 99. ⟨10.1093/brain/awad347⟩
Journal articles inserm-04410829v1

Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells

Alexia Bodin , Logan Greibill , Julien Gouju , Franck Letournel , Silvia Pozzi
Brain - A Journal of Neurology , 2023, 146 (9), pp.3624-3633. ⟨10.1093/brain/awad228⟩
Journal articles hal-04254654v1

Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure

Sophie Belal , David Goudenège , Cinzia Bocca , Florent Dumont , Juan Manuel Chao de la Barca
Biomedicines, 2022, 10 (7), pp.1665. ⟨10.3390/biomedicines10071665⟩
Journal articles hal-04436403v1
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Next generation sequencing identifies novel PMPCA variants in patients with dominant optic atrophy

Majida Charif , Arnaud Chevrollier , Naïg Gueguen , Selma Kane , Céline Bris
Genes, 2022, 13 (7), pp.1202. ⟨10.3390/genes13071202⟩
Journal articles hal-03861086v1

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant

Charlène Lhuissier , Bart Wagner , Amy Vincent , Gaëtan Garraux , Olivier Hougrand
Frontiers in Neurology, 2022, 13, ⟨10.3389/fneur.2022.937885⟩
Journal articles hal-03861074v1
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MELAS syndrome causes glutamate and tricarboxylic acid cycle dysfunctions alleviated by ketone body treatment

Sophie Belal , David Goudenège , Cinzia Bocca , Florent Dumont , Juan Manuel Chao de la Barca
Biomedicines, 2022, 10 (7), pp.1665. ⟨10.3390/biomedicines10071665⟩
Journal articles hal-03861087v1

Cancer/Testis Antigen 55 is required for cancer cell proliferation and mitochondrial DNA maintenance

Jade Aurrière , David Goudenege , Simone Baechler , Shar-Yin Huang , Naig Gueguen
Mitochondrion, 2022, 64, pp.19-26. ⟨10.1016/j.mito.2022.02.005⟩
Journal articles hal-03771509v1
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LPS-enriched small extracellular vesicles from metabolic syndrome patients trigger endothelial dysfunction by activation of TLR4

Sakina Ali , Marine Malloci , Zainab Safiedeen , Raffaella Soleti , Luisa Vergori
Metabolism, 2021, 118, pp.154727. ⟨10.1016/j.metabol.2021.154727⟩
Journal articles hal-03284090v1
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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

Majida Charif , Naïg Gueguen , Marc Ferré , Zouhair Elkarhat , Salim Khiati
Brain Communications, 2021, 3 (2), ⟨10.1093/braincomms/fcab063⟩
Journal articles hal-03873017v1
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Protective role of the mitochondrial fusion protein OPA1 in hypertension

Pauline Robert , Phuc Minh Chau Nguyen , Alexis Richard , Céline Grenier , Arnaud Chevrollier
FASEB Journal, 2021, 35, ⟨10.1096/fj.202000238rrr⟩
Journal articles hal-03379614v1
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The Long Non-Coding RNA SAMMSON Is a Regulator of Chemosensitivity and Metabolic Orientation in MCF-7 Doxorubicin-Resistant Breast Cancer Cells

Charlotte Orre , Xavier Dieu , Jordan Guillon , Naïg Gueguen , Seyedeh Tayebeh Ahmadpour
Biology, 2021, 10 (11), pp.1156. ⟨10.3390/biology10111156⟩
Journal articles inserm-03546999v1

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

Majida Charif , Arnaud Chevrollier , Naïg Gueguen , Céline Bris , David Goudenège
Neurology Genetics, 2020, 6 (3), pp.e428. ⟨10.1212/NXG.0000000000000428⟩
Journal articles hal-02942795v1

Étude du cerveau humain à l’échelle nanoscopique par microscopie Super-Résolutive STORM

Philippe Codron , Franck Letournel , Serge Marty , Mathilde Duchesne , Christophe Verny
Revue Neurologique, 2020, 176, pp.S105. ⟨10.1016/j.neurol.2020.01.296⟩
Journal articles hal-02942785v1
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Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K

Julien Cassereau , Arnaud Chevrollier , Philippe Codron , Cyril Goizet , Naïg Gueguen
Experimental Neurology, 2020, 323, pp.113069. ⟨10.1016/j.expneurol.2019.113069⟩
Journal articles hal-02388209v1

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

Cinzia Bocca , Mariame Selma Kane , Charlotte Veyrat-Durebex , Judith Kouassi Nzoughet , Juan Manuel Chao de La Barca
Journal of Proteome Research, 2019, 18 (7), pp.2779-2790. ⟨10.1021/acs.jproteome.9b00081⟩
Journal articles hal-02388215v1
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Warburg-like effect is a hallmark of complex I assembly defects

Valerie Desquiret-Dumas , Geraldine Leman , Celine Wetterwald , Stephanie Chupin , Anaïs Lebert
Biochimica et Biophysica Acta - Molecular Basis of Disease, 2019, 1865 (9), pp.2475-2489. ⟨10.1016/j.bbadis.2019.05.011⟩
Journal articles hal-02942827v1

Is multidetector CT-scan able to detect T3a renal tumor before surgery?

Marie Caillaud , Mickaël Laisney , Alexandre Bejanin , Clarisse Scherer-Gagou , Harmony Duclos
Scandinavian Journal of Urology and Nephrology Supplements, 2019, 53 (5), pp.350-355. ⟨10.1080/21681805.2019.1675756⟩
Journal articles hal-02975277v1

Reply: The expanding neurological phenotype of DNM1L-related disorders

Sylvie Gerber , Majida Charif , Arnaud Chevrollier , Tanguy Chaumette , Claire Angebault
Brain - A Journal of Neurology , 2018, 141 (4), pp.e29-e29. ⟨10.1093/brain/awy027⟩
Journal articles hal-02388229v1
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The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency

Cinzia Bocca , Mariame Selma Kane , Charlotte Veyrat-Durebex , Stéphanie Chupin , Jennifer Alban
Scientific Reports, 2018, 8 (1), ⟨10.1038/s41598-018-29972-9⟩
Journal articles hal-02388227v1

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

Cinzia Bocca , Judith Nzoughet , Stéphanie Leruez , Patrizia Amati-Bonneau , Marc Ferré
Investigative Ophthalmology & Visual Science, 2018, 59, pp.185-195. ⟨10.1167/iovs.17-23027⟩
Journal articles hal-01964499v1

Current mechanistic insights into the CCCP-induced cell survival response

Mariame Kane , Aurelien Paris , Philippe Codron , Julien Cassereau , Vincent Procaccio
Biochemical Pharmacology, 2018, 148, pp.100-110. ⟨10.1016/j.bcp.2017.12.018⟩
Journal articles hal-01964494v1

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

Philippe Codron , Julien Cassereau , Patrick Vourc'H , Charlotte Veyrat-Durebex , Hélène Blasco
Amyotrophic lateral sclerosis & frontotemporal degeneration, 2018, 19 (5-6), pp.446-456. ⟨10.1080/21678421.2018.1431787⟩
Journal articles hal-01964500v1

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1 delTTAG/+ Mice

Juan Manuel Chao de La Barca , Gilles Simard , Emmanuelle Sarzi , Tanguy Chaumette , Guillaume Rousseau
Investigative Ophthalmology & Visual Science, 2017, 58 (2), pp.812-820. ⟨10.1167/iovs.16-21116⟩
Journal articles hal-01784466v1

CLUH couples mitochondrial distribution to the energetic and metabolic status

Jamal Wakim , David Goudenege , Rodolphe Perrot , Naig Gueguen , Valerie Desquiret-Dumas
Journal of Cell Science, 2017, 130 (11), pp.1940 - 1951. ⟨10.1242/jcs.201616⟩
Journal articles hal-01601889v1

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

Philippe Codron , Arnaud Chevrollier , Mariame-Selma Kane , Andoni Echaniz-Laguna , Philippe Latour
J Peripher Nerv Syst, 2016, 21 (4), pp.365-369. ⟨10.1111/jns.12192⟩
Journal articles hal-02104500v1
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Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model

Sophie Le Page , Marjorie Niro , J. Fauconnier , Laura Cellier , Sophie Tamareille
PLoS ONE, 2016, 11 (10), pp.e0164066. ⟨10.1371/journal.pone.0164066⟩
Journal articles hal-01818418v1

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

Samuel Frey , Guillaume Geffroy , Valérie Desquiret-Dumas , Naig Guegen , Celine Bris
Biochimica et Biophysica Acta - Molecular Basis of Disease, 2016, 1863 (1), pp.284-291. ⟨10.1016/j.bbadis.2016.10.028⟩
Journal articles hal-01396751v1

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

Juan Manuel Chao de La Barca , Gilles Simard , Patrizia Amati-Bonneau , Zainab Safiedeen , Delphine Mirebeau-Prunier
Brain - A Journal of Neurology , 2016, 139 (11), pp.2864-2876. ⟨10.1093/brain/aww222⟩
Journal articles hal-02103390v1

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Juan Manuel Chao de La Barca , Delphine Mirebeau-Prunier , Patrizia Amati-Bonneau , Marc Ferré , Emmanuelle Sarzi
Neurobiology of Disease, 2015, pp.20-26. ⟨10.1016/j.nbd.2015.08.015⟩
Journal articles hal-01392230v1

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency

Géraldine Leman , Naig Guegen , Valérie Desquiret-Dumas , Mariame Kane , Céline Wetterwald
International Journal of Biochemistry and Cell Biology, 2015, 65, pp.91-103. ⟨10.1016/j.biocel.2015.05.017⟩
Journal articles hal-01399131v1

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Dominique Bonneau , Estelle Colin , Florine Oca , Marc Ferré , Arnaud Chevrollier
Brain - A Journal of Neurology , 2014, Non spécifié. ⟨10.1093/brain/awu184⟩
Journal articles hal-03403967v1

Perspectives of drug-based neuroprotection targeting mitochondria

Vincent Procaccio , Céline Bris , Juan Manuel Chao de La Barca , Florine Oca , Arnaud Chevrollier
Revue Neurologique, 2014, 170 (5), pp.390 - 400. ⟨10.1016/j.neurol.2014.03.005⟩
Journal articles hal-03404068v1

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Estelle Colin , Huynh Cong , G. Mollet , Agnés Guichet , O. Gribouval
American Journal of Human Genetics, 2014, 95 (6), pp.637 - 48. ⟨10.1016/j.ajhg.2014.10.011⟩
Journal articles hal-03404021v1

Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells

Valérie Desquiret-Dumas , Naïg Gueguen , Géraldine Leman , Stephanie Baron , Valerie Nivet-Antoine
Journal of Biological Chemistry, 2013, 288 (51), pp.36662 - 75. ⟨10.1074/jbc.M113.466490⟩
Journal articles hal-03404098v1

Experimental determination of organelle targeting peptide cleavage sites using transient expression of GFP translational fusions

Adrien Candat , Pauline Poupart , Jean-Pierre Andrieu , Arnaud Chevrollier , Pascal Reynier
Analytical Biochemistry, 2013, 434 (1), pp.44-51. ⟨10.1016/j.ab.2012.10.040⟩
Journal articles hal-01209902v1
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Is ABCC6 a genuine mitochondrial protein?

Marc Ferré , Pascal Reynier , Arnaud Chevrollier , Delphine Prunier-Mirebeau , Georges Lefthériotis
BMC Research Notes, 2013, 6 (1), pp.427. ⟨10.1186/1756-0500-6-427⟩
Journal articles inserm-00877607v1

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS

Valérie Desquiret-Dumas , Naïg Gueguen , Magalie Barth , Arnaud Chevrollier , S. Hancock
BBA - Biochimica et Biophysica Acta, 2012, 1822 (6), pp.1019 - 29. ⟨10.1016/j.bbadis.2012.01.010⟩
Journal articles hal-03404030v1

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function

Arnaud Chevrollier , Julien Cassereau , Marc Ferré , Jennifer Alban , Valérie Desquiret-Dumas
International journal of biochemistry & cell biology, 2012, 44 (6), pp.980 - 8. ⟨10.1016/j.biocel.2012.03.006⟩
Journal articles hal-03404105v1

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

Julien Cassereau , C. Casasnovas , Naïg Gueguen , Marie-Claire Malinge , Virginie Guillet
Neurology, 2011, 76 (17), pp.1524 - 6. ⟨10.1212/WNL.0b013e318217e77d⟩
Journal articles hal-03408522v1

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation

Virginie Guillet , Naïg Gueguen , R. Cartoni , Arnaud Chevrollier , Valérie Desquiret-Dumas
FASEB Journal, 2011, 25 (5), pp.1618 - 27. ⟨10.1096/fj.10-173609⟩
Journal articles hal-03408441v1

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations

Julien Cassereau , Arnaud Chevrollier , Naïg Gueguen , Valérie Desquiret-Dumas , Christophe Verny
Experimental Neurology, 2011, 227 (1), pp.31 - 41. ⟨10.1016/j.expneurol.2010.09.006⟩
Journal articles hal-03408479v1

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

C. Rouzier , Sylvie Bannwarth , A. Chaussenot , Arnaud Chevrollier , A. Verschueren
Brain - A Journal of Neurology , 2011, 135 (Pt 1), pp.23 - 34. ⟨10.1093/brain/awr323⟩
Journal articles hal-03408506v1
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A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

Julien Cassereau , Arnaud Chevrollier , Dominique Bonneau , Christophe Verny , Vincent Procaccio
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.87. ⟨10.1186/1750-1172-6-87⟩
Journal articles inserm-00683147v1

Adenine nucleotide translocase 2 is a key mitochondrial protein in cancer metabolism

Arnaud Chevrollier , Dominique Loiseau , Pascal Reynier , Georges Stepien
Biochimica biophysica acta (BBA) - Bioenergetics, 2011, 1807 (6), pp.562 - 567. ⟨10.1016/j.bbabio.2010.10.008⟩
Journal articles hal-02645378v1
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Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

Claire Angebault , Naïg Gueguen , Valérie Desquiret-Dumas , Arnaud Chevrollier , Virginie Guillet
BMC Research Notes, 2011, 4 (1), pp.557. ⟨10.1186/1756-0500-4-557⟩
Journal articles inserm-00673659v1

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

Christophe Verny , Naïg Gueguen , Valérie Desquiret-Dumas , Arnaud Chevrollier , Adriana Prundean
Mitochondrion, 2010, 11 (1), pp.70 - 75. ⟨10.1016/j.mito.2010.07.006⟩
Journal articles hal-03408492v1

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease

Virginie Guillet , Naïg Gueguen , Christophe Verny , Marc Ferré , Chadi Homedan
neurogenetics, 2010, 11 (1), pp.127 - 133. ⟨10.1007/s10048-009-0207-z⟩
Journal articles hal-03406912v1

Phenotypic spectrum of MFN2 mutations in the Spanish population

C. Casasnovas , I. Banchs , Julien Cassereau , Naïg Gueguen , Arnaud Chevrollier
Journal of Medical Genetics, 2010, 47 (4), pp.249 - 56. ⟨10.1136/jmg.2009.072488⟩
Journal articles hal-03408512v1

Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity

Virginie Guillet , Arnaud Chevrollier , Julien Cassereau , Franck Letournel , Naïg Gueguen
Mitochondrion, 2010, 10 (2), pp.115 - 124. ⟨10.1016/j.mito.2009.11.004⟩
Journal articles hal-03403265v1

De la levure aux maladies neurodégénératives : Dix ans d’exploration des pathologies de la dynamique mitochondriale

Guy Lenaers , Patrizia Amati-Bonneau , Cécile Delettre , Arnaud Chevrollier , Christophe Verny
Médecine/Sciences, 2010, 26 (10), pp.836 - 841. ⟨10.1051/medsci/20102610836⟩
Journal articles hal-03408444v1

Mitochondrial bioenergetic background confers a survival advantage to HepG2 cells in response to chemotherapy

Dominique Loiseau , Daniel Morvan , Arnaud Chevrollier , Aicha Demidem , Olivier Douay
Molecular Carcinogenesis, 2009, 48 (8), pp.733-741. ⟨10.1002/mc.20539⟩
Journal articles hal-02655649v1

OPA1-associated disorders: Phenotypes and pathophysiology

Patrizia Amati-Bonneau , Dan Milea , Dominique Bonneau , Arnaud Chevrollier , Marc Ferré
International Journal of Biochemistry and Cell Biology, 2009, 41 (10), pp.1855 - 1865. ⟨10.1016/j.biocel.2009.04.012⟩
Journal articles hal-03406909v1

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

Yannick Nochez , Sophie Arsene , Naïg Gueguen , Arnaud Chevrollier , Marc Ferré
Molecular Vision, 2009, 15, pp.598 - 608
Journal articles hal-03406919v1

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

Julien Cassereau , Arnaud Chevrollier , Naïg Gueguen , Marie-Claire Malinge , Franck Letournel
neurogenetics, 2009, 10 (2), pp.145 - 150. ⟨10.1007/s10048-008-0166-9⟩
Journal articles hal-03403277v1
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OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.

Denis Pierron , Marc Ferré , Christophe Rocher , Arnaud Chevrollier , Pascal Murail
BMC Medical Genetics, 2009, 10 (1), pp.70. ⟨10.1186/1471-2350-10-70⟩
Journal articles inserm-00663623v1

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Marc Ferré , Dominique Bonneau , Dan Milea , Arnaud Chevrollier , Christophe Verny
Human Mutation, 2009, 30 (7), pp.E692-705. ⟨10.1002/humu.21025⟩
Journal articles inserm-00372261v1
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Reversible optic neuropathy with OPA1 exon 5b mutation.

Karen Cornille , Dan Milea , Patrizia Amati-Bonneau , Vincent Procaccio , Lydie Zazoun
Annals of Neurology, 2008, 63 (5), pp.667-71. ⟨10.1002/ana.21376⟩
Journal articles inserm-00287509v1

Multiple Sclerosis–Like Disorder in Opa1-Related Autosomal Dominant Optic Atrophy

Christophe Verny , Dominique Loiseau , Clarisse Scherer , P. Lejeune , Arnaud Chevrollier
Neurology, 2008, 70 (13 Part 2), pp.1152 - 1153. ⟨10.1212/01.wnl.0000289194.89359.a1⟩
Journal articles hal-03419056v1

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Arnaud Chevrollier , Virginie Guillet , Dominique Loiseau , Naïg Gueguen , Marie-Anne Pou de Crescenzo
Annals of Neurology, 2008, 63 (6), pp.794-8. ⟨10.1002/ana.21385⟩
Journal articles hal-00282865v1

ANT2 isoform required for cancer cell glycolysis

Arnaud Chevrollier , Dominique Loiseau , Béatrice Chabi , Gilles Renier , Olivier Douay
Journal of Bioenergetics and Biomembranes, 2005, 37 (5), pp.307-316. ⟨10.1007/s10863-005-8642-5⟩
Journal articles hal-02679782v1

Random mtDNA deletions and functional consequence in aged human skeletal muscle

Béatrice Chabi , Bénédicte de Camaret , Arnaud Chevrollier , Stéphane Boisgard , Georges Stepien
Biochemical and Biophysical Research Communications, 2005, 332 (2), pp.542-549. ⟨10.1016/j.bbrc.2005.04.153⟩
Journal articles hal-02682861v1

Human Brain Imaging with STochastic Optical Reconstruction Microscopy (STORM)

Philippe Codron , Franck Letourneur , Guy Lenaers , Arnaud Chevrollier
63eme congress of the french neuropathological society, Dec 2021, Pparis, France
Conference papers hal-03455529v1