Výsledky vyhledávání - "Bénédicte Mousson de Camaret"

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

Autor: Laurent Juillard, Maud Rabeyrin, Marine Panaye, Fitsum Guebre-Egziabher, Philippe Petiot, Sandrine Lemoine, Elisabeth Errazuriz-Cerda, Bénédicte Mousson de Camaret

Publikováno v: American Journal of Kidney Diseases
American Journal of Kidney Diseases, Elsevier, 2018, 71 (5), pp.754-757. ⟨10.1053/j.ajkd.2017.09.020⟩

We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with a biopsy-proven kidney involvement that progressed to end-stage renal disease at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea144746bc63cc5557a4023a37036b4c
https://hal.archives-ouvertes.fr/hal-01827642

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SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

Autor: Maïté Chassagne, Andoni Echaniz-Laguna, Sylvie Padet, Isabelle Rouvet, Massimo Zeviani, Bénédicte Mousson de Camaret, Laura Melchionda, Dominique Bozon, Daniele Ghezzi, Philippe Latour, Béatrice Lannes, Martine Mayençon

Publikováno v: Neurology. 81:1523-1530

To investigate whether mutations in the SURF1 gene are a cause of Charcot-Marie-Tooth (CMT) disease.We describe 2 patients from a consanguineous family with demyelinating autosomal recessive CMT disease (CMT4) associated with the homozygous splice si

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::823d7e489865d5016f923a236c12adfa
https://doi.org/10.1212/wnl.0b013e3182a4a518

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Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Publikováno v: Journal of Medical Genetics
Journal of medical genetics
Journal of medical genetics, 2013, 50 (10), pp.704-14. ⟨10.1136/jmedgenet-2013-101604⟩
Journal of Medical Genetics, 2013, 50 (10), pp.704-14. ⟨10.1136/jmedgenet-2013-101604⟩

International audience; BACKGROUND: Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. Patients are usually tested only for deletions and for common mutations of mtDNA which account for 5-40% of case

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f41a72926fa6a85943f3f374890fd4
https://doi.org/10.1136/jmedgenet-2013-101604

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

Autor: Anikó Gál, Hibiki Kawamata, Beáta Töröcsik, Andoni Echaniz-Laguna, Mária Judit Molnár, Christos Chinopoulos, Giovanni Manfredi, Vera Adam-Vizi, Judit Doczi, Natalia N. Starkova, Anatoly A. Starkov, Bénédicte Mousson de Camaret

Publikováno v: Scientific Reports

The probability of mitochondrial permeability transition (mPT) pore opening is inversely related to the magnitude of the proton electrochemical gradient. The module conferring sensitivity of the pore to this gradient has not been identified. We inves

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Complete loss of expression of theANT1gene causing cardiomyopathy and myopathy

Autor: Stéphane Vinzio, Cécile Acquaviva, Dominique Bozon, Andoni Echaniz-Laguna, Maïté Chassagne, Bénédicte Mousson de Camaret, Sylvie Padet, Serge Nataf, Isabelle Rouvet, Jennifer Ceresuela

Publikováno v: Journal of Medical Genetics. 49:146-150

Background The ANT1 gene, encoding ADP/ATP translocase 1, was investigated in an adult patient with an autosomal recessive mitochondrial disorder characterised by congenital cataracts, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Method

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77ab139119efed09f5a6c4ec37a26892
https://doi.org/10.1136/jmedgenet-2011-100504

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

Autor: Peter Freisinger, David Dimmock, Anthony Rupar, Bénédicte Mousson de Camaret, Lee-Jun C. Wong, Annette Feigenbaum, Fernando Scaglia, J. Kay Dunn, Rita Horvath

Publikováno v: Liver Transplantation. 14:1480-1485

Deoxyguanosine kinase (DGUOK) deficiency is the commonest type of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this article, we evaluate predictors of survival and therapeutic options in patients with DGUOK deficiency. A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b195cb662ce13a900ec9c44857733f83
https://doi.org/10.1002/lt.21556

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Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant

Autor: Frédéric Massal, Jean Leid, Salah Mohamed Cherif Titah, Guy Lenaers, Eric Raynaud de Mauverger, Bénédicte Mousson de Camaret, Jacques Mercier, Xavier Zanlonghi, Isabelle Meunier, Agathe Roubertie, Naïg Gueguen, Vincent Procaccio, Valérie Desquiret-Dumas, Christian P. Hamel, Majida Charif

Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (10), pp.2366-74. ⟨10.1002/ajmg.a.37188⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (10), pp.2366-2374. ⟨10.1002/ajmg.a.37188⟩

International audience; We report on clinical, genetic and metabolic investigations in a family with optic neuropathy, non-progressive cardiomyopathy and cognitive disability. Ophthalmic investigations (slit lamp examination, funduscopy, OCT scan of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bd0aa32ebbfefe94100bfdb2119ba4e
https://hal.archives-ouvertes.fr/hal-01389203

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

Autor: Majida Charif, Pierre-Olivier Guichet, Naig Guegen, Claire Angebault, François Rivier, Guy Lenaers, Nicolas Leboucq, Camille Piro-Mégy, Bénédicte Mousson de Camaret, Gaël Manes, Vincent Procaccio, Agathe Roubertie, Maxime Hebrard, Christian P. Hamel

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (14), pp.3948-55. ⟨10.1093/hmg/ddv133⟩

International audience; Mitochondrial complex I (CI) deficiencies are causing debilitating neurological diseases, among which, the Leber Hereditary Optic Neuropathy and Leigh Syndrome are the most frequent. Here, we describe the first germinal pathog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1e0ba1b1e70bb0a5a802492da2b23d
https://hal.archives-ouvertes.fr/hal-01392228

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Random mtDNA deletions and functional consequence in aged human skeletal muscle

Autor: Béatrice Chabi, Georges Stepien, Bénédicte Mousson de Camaret, Stéphane Boisgard, Arnaud Chevrollier

Publikováno v: Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, Elsevier, 2005, 332 (2), pp.542-549. ⟨10.1016/j.bbrc.2005.04.153⟩

International audience; Mitochondrial respiratory chain deteriorates with age, mostly in tissues with high energy requirements. Damage to mitochondrial DNA (mtDNA) by reactive oxygen species is thought to contribute primarily to this impairment. Howe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99fbe8473b57460146baa8ac84aa9f09
https://doi.org/10.1016/j.bbrc.2005.04.153

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