Bénédicte Mousson de Camaret

Most-cited papers

1. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

   R. Kopajtich, T. J. Nicholls, J. Rorbach, Metodi D. Metodiev +47 more

   2014American Journal of Human Genetics160 citations Open access

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2. Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.

   Ingrid Bourges, C. Ramus, Bénédicte Mousson de Camaret, R. Beugnot +4 more

   2004Biochemical Journal140 citations Open access

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3. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

   S. Bannwarth, V. Procaccio, A. Lèbre, C. Jardel +33 more

   2013Journal of Medical Genetics115 citations Open access

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4. Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy

   A. Echaniz-Laguna, M. Chassagne, Jennifer Ceresuela, I. Rouvet +6 more

   2011Journal of Medical Genetics79 citations

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5. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

   D. Dimmock, J. Dunn, A. Feigenbaum, A. Rupar +5 more

   2008Liver transplantation73 citations Open access

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6. Quantification of mitochondrial DNA deletion, depletion, and overreplication: application to diagnosis.

   B. Chabi, Bénédicte Mousson de Camaret, H. Duborjal, J. Issartel +1 more

   2003Clinical Chemistry62 citations Open access

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7. SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

   A. Echaniz-Laguna, D. Ghezzi, M. Chassagne, M. Mayençon +8 more

   2013Neurology58 citations Open access

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8. Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

   C. Angebault, M. Charif, N. Guegen, Camille Piro-Mégy +10 more

   2015Human Molecular Genetics51 citations Open access

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9. Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.

   Bénédicte Mousson de Camaret, J. Taanman, Sylvie Padet, M. Chassagne +6 more

   2007Biochemical Journal48 citations Open access

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10. POLG1 variations presenting as multiple sclerosis.

    A. Echaniz-Laguna, M. Chassagne, J. de Sèze, M. Mohr +3 more

    2010Archives of Neurology38 citations Open access

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11. Alterations in voltage-sensing of the mitochondrial permeability transition pore in ANT1-deficient cells

    Judit Doczi, B. Torocsik, A. Echaniz-Laguna, Bénédicte Mousson de Camaret +8 more

    2016Scientific Reports31 citations Open access

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12. Mitochondrial myopathy caused by arsenic trioxide therapy.

    A. Echaniz-Laguna, A. Benoilid, S. Vinzio, L. Fornecker +4 more

    2012Blood19 citations

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13. Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.

    S. Lemoine, Marine Panaye, M. Rabeyrin, Elisabeth Errazuriz-Cerda +4 more

    2017American Journal of Kidney Diseases17 citations

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14. POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

    Bénédicte Mousson de Camaret, M. Chassagne, M. Mayençon, Sylvie Padet +8 more

    2011Mitochondrion (Amsterdam. Print)10 citations

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15. Full-length PGC-1α salvages the phenotype of a mouse model of human neuropathy through mitochondrial proliferation.

    K. Rona-Voros, Judith Eschbach, Aurélia Vernay, Diana Wiesner +8 more

    2013Human Molecular Genetics6 citations Open access

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