Zobrazeno 1 - 10
of 205
pro vyhledávání: '"B, Mousson"'
Autor:
Béreau, M., Anheim, M., Echaniz-Laguna, A., Magot, A., Verny, C., Goideau-Sevrain, M., Barth, M., Amati-Bonneau, P., Allouche, S., Ayrignac, X., Bédat-Millet, A.-L., Guyant-Maréchal, L., Kuntzer, T., Ochsner, F., Petiot, P., Vial, C., Omer, S., Sole, G., Taieb, G., Carvalho, N., Tio, G., Kremer, S., Acquaviva-Bourdain, C., de Camaret, B. Mousson, Tranchant, C.
Publikováno v:
In Journal of the Neurological Sciences 15 September 2016 368:70-76
Autor:
Medja, F., Allouche, S., Frachon, P., Jardel, C., Malgat, M., de Camaret, B. Mousson, Slama, A., Lunardi, J., Mazat, J.P., Lombès, A.
Publikováno v:
In Mitochondrion 2009 9(5):331-339
Autor:
B. Mousson de Camaret, Christophe Vial, Andoni Echaniz-Laguna, Stéphane Allouche, Patrizia Amati-Bonneau, Christine Tranchant, Lucie Guyant-Maréchal, Armelle Magot, M. Goideau-Sevrain, Mathieu Anheim, Thierry Kuntzer, A.-L. Bédat-Millet, Christophe Verny, N. Carvalho, C. Acquaviva-Bourdain, Philippe Petiot, Xavier Ayrignac, Guilhem Solé, Salah Omer, M. Béreau, M. Barth, Guillaume Taieb, François Ochsner, Stéphane Kremer, Grégory Tio
Publikováno v:
J Neurol Sci
J Neurol Sci, 2016, 368, pp.70-6. ⟨10.1016/j.jns.2016.06.062⟩
J Neurol Sci, 2016, 368, pp.70-6. ⟨10.1016/j.jns.2016.06.062⟩
International audience; The aims of this study were to describe the spectrum of recessively inherited POLG-related disorders, to report new POLG mutations and to discuss genotype-phenotype correlations in order to propose a strategy for diagnosis. Tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::860836ddbd99a481d1c882ef22b371b6
https://hal.archives-ouvertes.fr/hal-02066824
https://hal.archives-ouvertes.fr/hal-02066824
Autor:
B. Mousson de Camaret, A. Echaniz Laguna, Christine Tranchant, Béatrice Lannes, Marie-Céline Fleury
Publikováno v:
Pratique Neurologique - FMC. 3:330-334
Resume Une patiente de 63 ans qui presentait depuis une quinzaine d’annees un diabete non insulinodependant et une surdite de perception, developpa des troubles de l’equilibre et du comportement. L’IRM cerebrale montra des calcifications bilate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3834c15acd1a3024ce411f1c7a1ec61e
https://doi.org/10.1016/j.praneu.2012.09.002
https://doi.org/10.1016/j.praneu.2012.09.002
Autor:
R. Dumoulin, B. Mousson, Monique Mathieu, F. Flocard, Mohamed Fouad Bouzidi, S. Quard, J. M. Collombet, Catherine Godinot, H. Carrier, I. Maire
Publikováno v:
Acta Neurologica Scandinavica. 91:488-493
A 29-year-old man with a progressive exertional muscle intolerance since childhood was referred for incremental exercise test on a bicycle ergometer. The response pattern suggested a mitochondrial myopathy: that is, a greatly reduced maximum oxygen c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::063c240e50ad18c6946170a21c36d109
https://doi.org/10.1111/j.1600-0404.1995.tb00451.x
https://doi.org/10.1111/j.1600-0404.1995.tb00451.x
Cytopathie mitochondriale : une cause inhabituelle d’atrophie villositaire totale chez le nourrisson
Publikováno v:
Archives de Pédiatrie. 11:118-121
Villous atrophy in an infant immediately suggests food intolerance. We report a case with an unusual cause. This female infant was first examined at 5 months for anorexia and failure to thrive. Intestinal biopsy showed total villous atrophy. A diet e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c7d07c197211f1550c04f7903a16528
https://doi.org/10.1016/j.arcped.2003.10.012
https://doi.org/10.1016/j.arcped.2003.10.012
Autor:
F. Flocard, H. Carrier, T. Ville-Ferlin, Monique Mathieu, G. Stepien, R. Dumoulin, V. Matha, B. Bady, B. Mousson
Publikováno v:
Molecular and Cellular Probes. 9:207-214
Multiple deletions of mitochondrial DNA have been detected by Southern blotting in the skeletal muscle of a 42-year-old woman with chronic progressive external ophthalmoplegia. A PCR method, using several combinations of primers covering the whole mt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65d849dee5a3b0f1cec78ae6fa18e033
https://doi.org/10.1006/mcpr.1995.0031
https://doi.org/10.1006/mcpr.1995.0031
Autor:
B Mousson-de-Camaret, M.E Montelescaut, Guy Chazot, Nathalie Streichenberger, Stéphane Thobois, P Giraud, S Younes-Mhenni, E Broussolle
Publikováno v:
La Revue de Médecine Interne. 23:1027-1029
Resume Introduction. – Le syndrome Melas est une mitochondriopathie associant encephalomyopathie, acidose lactique et accidents vasculaires cerebraux. Exegese. – Une patiente de 39 ans presente l’association d'une surdite, d’une epilepsie, d'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cfc6631373b8f046398bd93a2fd7072a
https://doi.org/10.1016/s0248-8663(02)00730-0
https://doi.org/10.1016/s0248-8663(02)00730-0
Autor:
Catherine Godinot, B. Mousson, P. Guibaud, H. Carrier, P. Divry, J. M. Collombet, C. Lopez-Mediavilla, R. Dumoulin, N. Guffon, M. Mathieu
Publikováno v:
Journal of Inherited Metabolic Disease. 16:821-830
Two new familial cases of 2-ketoglutarate dehydrogenase (2-KGD) deficiency are reported: a girl who died at 10 years and a boy, still alive at 4 years, born to consanguineous parents. The cases developed progressively severe encephalopathy with axial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67b11411f7ecfc268692d1553c5e8767
https://doi.org/10.1007/bf00714273
https://doi.org/10.1007/bf00714273
Autor:
Christine Tranchant, B. Mousson, Jean-Marie Warter, C. Weess, Michel Mohr, M. Welsch, R. Dumoulin, G. Stepien
Publikováno v:
Neuromuscular Disorders. 3:561-566
A 38-yr-old man with external ophthalmoplegia, cardiac conduction abnormalities, hearing loss, and ragged-red fibres in skeletal muscle biopsy, developed severe signs of cardiac failure within a few months. Echocardiography and angiography demonstrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1268b708711d611cdffe6bb5d4d62239
https://doi.org/10.1016/0960-8966(93)90116-2
https://doi.org/10.1016/0960-8966(93)90116-2