Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Maïté Chassagne"'
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
https://doi.org/10.1212/wnl.0b013e3182a4a518
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
https://doi.org/10.1136/jmedgenet-2011-100504
Autor:
François Rivier, Marie-Therese Zabot, Sylvie Padet, Martine Mayençon, Pascale Clerc-Renaud, Maïté Chassagne, Bénédicte Mousson de Camaret, Dominique Bozon, Vincent des Portes, Pierre Sarda, Hervé Crehalet, Isabelle Rouvet
Publikováno v:
Mitochondrion
Mitochondrion, Elsevier, 2011, 11 (1), pp.223-7. ⟨10.1016/j.mito.2010.07.011⟩
Mitochondrion, 2011, 11 (1), pp.223-7. ⟨10.1016/j.mito.2010.07.011⟩
Mitochondrion, Elsevier, 2011, 11 (1), pp.223-7. ⟨10.1016/j.mito.2010.07.011⟩
Mitochondrion, 2011, 11 (1), pp.223-7. ⟨10.1016/j.mito.2010.07.011⟩
International audience; The POLG genes were sequenced in two unrelated patients presenting with Alpers syndrome. The novel c.3626_3629dupGATA and the c.3643+2T>C alleles were associated in trans with p.A467T and p.[W748S;E1143G], respectively. POLG t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::342fea8bf11c86272379cac57ca64362
https://hal.archives-ouvertes.fr/hal-00655294
https://hal.archives-ouvertes.fr/hal-00655294
Autor:
Bénédicte Mousson de Camaret, Martine Mayençon, Ginette Mandon, Marie-Therese Zabot, Maïté Chassagne, Jan-Willem Taanman, Sylvie Padet, Dominique Bozon, Alain Lachaux, Pascale Clerc-Renaud
DGUOK [dG (deoxyguanosine) kinase] is one of the two mitochondrial deoxynucleoside salvage pathway enzymes involved in precursor synthesis for mtDNA (mitochondrial DNA) replication. DGUOK is responsible for the initial rate-limiting phosphorylation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5b82030ce2ad18c971b3db93ba9e188
https://europepmc.org/articles/PMC1798436/
https://europepmc.org/articles/PMC1798436/
Autor:
Bénédicte Mousson de camaret, Jan-Willem Taanman, Sylvie Padet, Maïté Chassagne, Martine Mayençon, Pascale Clerc-renaud, Ginette Mandon, Marie-Thérèse Zabot, Alain Lachaux, Dominique Bozon
Publikováno v:
Biochemical Journal; 2007, Vol. 402 Issue 2, p377-385, 9p
Autor:
Bénédicte Mousson de Camaret, Andoni Echaniz-Laguna, Maïté Chassagne, Michel Mohr, Christine Tranchant, Jérôme De Seze, Pascale Clerc-Renaud
Publikováno v:
ResearcherID
Objective To describe 2 unrelated patients with novel variations in the POLG1 gene and features undistinguishable from multiple sclerosis, ie, optic neuritis, brain white matter hyperintense areas, and unmatched cerebrospinal fluid oligoclonal bands.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2ed578cbe663eac77eba427e1a92e92
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000282102800016&KeyUID=WOS:000282102800016
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000282102800016&KeyUID=WOS:000282102800016