Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Manuèle Miné"'
Autor:
Alain Gaudric, Florence Riant, Dominique Hervé, Manuèle Miné, Hugues Chabriat, Sonia REYES, Christian Stapf
Publikováno v:
Revue Neurologique. 169:S28-S32
Resume Le centre de reference CERVCO est implique dans la prise en charge de differentes maladies vasculaires rares du cerveau et de la retine. Les progres observes au cours des dernieres annees sont variables en fonction des pathologies concernees.
Autor:
Manuèle Miné, P. de Lonlay, C. Marsac, Christine Barnerias, Michèle Brivet, J.-M. Saudubray, A. Boutron, A. Imbard, C. Vequaud, H. Ogier de Baulny, Mokhtar Zater
Publikováno v:
Molecular Genetics and Metabolism. 104:507-516
Background Pyruvate dehydrogenase complex (PDHc) deficiencies are an important cause of primary lactic acidosis. Most cases result from mutations in the X-linked gene for the pyruvate dehydrogenase E1α subunit ( PDHA1 ) while a few cases result from
Autor:
Philippe Evrard, Cécile Marsac, Michèle Brivet, Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Manuel Schiff, Manuèle Miné
Publikováno v:
Annals of Neurology. 59:709-714
Objective To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with pyruvate dehydrogenase complex (PDHc) deficiency. To compare this case with the data on other published cases. Methods
Autor:
Marie-Laure Moutard, Mokhtar Zater, Michèle Brivet, Lydia Venet, Manuèle Miné, Alain Legrand, Claude Chenel
Publikováno v:
Molecular Genetics and Metabolism. 86:456-461
Pyruvate dehydrogenase complex (PDC) deficiency is one of the major recognized causes of congenital lactic acidosis. The most common form is due to PDHA 1 gene (Xp22.12) defects. Here, we report the case of a Polynesian girl presenting with delayed n
Autor:
Cécile Marsac, Daniel Ricquier, Aral Bernard, Jian-Min Chen, Marc Abitbol, Michèle Brivet, Pascale de Lonlay, Manuèle Miné, Isabelle Desguerre, Claude Férec, Dominique Marchant
Publikováno v:
Human mutation. 28(2)
The long interspersed element-1 (LINE-1 or L1) retrotransposition has altered the human genome in many ways. In particular, recent in vitro studies have demonstrated that the retrotranspositional insertion of L1 elements has resulted in significant g
Autor:
Michèle Brivet, Cécile Marsac, Manuel Schiff, Nadia Chuzhanova, Manuèle Miné, Hélène Ogier de Baulny
Publikováno v:
Molecular genetics and metabolism. 89(1-2)
We report here the molecular analysis of a pyruvate dehydrogenase E3-binding protein (PDH-E3BP) deficiency in a new patient, born to first cousin parents. She has initially presented with a non-progressive and unspecific encephalopathy, followed by a
Publikováno v:
Molecular and Cellular Biology
Molecular and Cellular Biology, American Society for Microbiology, 2005, 25 (8), pp.3286--94. ⟨10.1128/MCB.25.8.3286-3294.2005⟩
Molecular and Cellular Biology, American Society for Microbiology, 2005, 25 (8), pp.3286--94. ⟨10.1128/MCB.25.8.3286-3294.2005⟩
Received 6 December 2004/Returned for modification 4 January 2005/Accepted 14 January 2005 Pyruvate dehydrogenase (PDH) complex deficiency is a major cause of lactic acidosis and Leigh’s encephalomyelopathies in infancy and childhood, resulting in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ea66c14ebc054185734452a671a152
https://hal.archives-ouvertes.fr/hal-02262227
https://hal.archives-ouvertes.fr/hal-02262227
Autor:
Bénédicte Sohm, Petra Tryoen-Tóth, Emmanuelle Leize, Cécile Marsac, Sophie Richert, Catherine Florentz, Alain Van Dorsselaer, Manuèle Miné
Publikováno v:
Journal of Biological Chemistry
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2003, 278 (27), pp.24314-24323. ⟨10.1074/jbc.M301530200⟩
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2003, 278 (27), pp.24314-24323. ⟨10.1074/jbc.M301530200⟩
International audience; Numerous severe neurodegenerative and neuromus-cular disorders, characterized biochemically by strong perturbations in energy metabolism, are correlated with single point mutations in mitochondrial genes coding for transfer RN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d277885ba895aef45eb21ae227257308
https://hal.univ-lorraine.fr/hal-02088274/document
https://hal.univ-lorraine.fr/hal-02088274/document
Autor:
Abdelhamid Slama, Manuèle Miné, Bernard Aral, Loic Van Den Berghe, Cécile Marsac, Runu Dey, Michèle Brivet, Isabelle Desguerre
Publikováno v:
Annals of neurology. 53(2)
We report a case of neonatal congenital lactic acidosis associated with pyruvate dehydrogenase E3-binding protein deficiency in a newborn girl. She had a severe encephalopathy, and magnetic resonance imaging of the brain showed large subependymal cys
Publikováno v:
The Journal of biological chemistry. 278(14)
An intronic point mutation was identified in the E1alpha PDH gene from a boy with delayed development and lactic acidosis, an X-linked disorder associated with a partial defect in pyruvate dehydrogenase (PDH) activity. Protein analysis demonstrated a