Zobrazeno 1 - 5
of 5
pro vyhledávání: '"M. F. Monfort"'
Autor:
R. Paul, Jean Pouget, C Butori, A. Saunières, Christian Richelme, Jean-François Pellissier, Véronique Paquis-Flucklinger, M. F. Monfort, Claude Desnuelle
Publikováno v:
European Journal of Human Genetics. 8:331-338
Multiple mitochondrial DNA (mtDNA) deletions have been reported in patients with autosomal dominant and recessive disorders. We studied several affected and one non-affected individuals belonging to a pedigree in which the inheritance of the patholog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d23bc38dc5c4560f70c576bac3218b
https://doi.org/10.1038/sj.ejhg.5200463
https://doi.org/10.1038/sj.ejhg.5200463
Autor:
A. Saunières, J. Camboulives, V. Paquis-Flucklinger, M. F. Monfort, Claude Desnuelle, B. Chabrol, H. Giudicelli, F. Pellissier
Publikováno v:
European Journal of Pediatrics. 154:557-562
We studied a 3-month-old girl who was admitted to hospital because of respiratory distress. The clinical course was characterized by a rapidly progressive generalized hypotonia with lactic acidosis and she died at 4 months of age. A muscle biopsy sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a78bcec5d01f2314e1560f2a1c7eeb03
https://doi.org/10.1007/bf02074834
https://doi.org/10.1007/bf02074834
Publikováno v:
Archives de Pédiatrie. 6:S506
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::769fbd635c52333f2d1b86943bec4056
https://doi.org/10.1016/s0929-693x(99)81523-1
https://doi.org/10.1016/s0929-693x(99)81523-1
Autor:
M. F. Monfort, Brigitte Chabrol, A Maues de Paula, C Fernandez, Roch Giorgi, Jean Pouget, Jean-François Pellissier, Dominique Figarella-Branger, Martin Krahn
Publikováno v:
ResearcherID
The authors analyzed muscle biopsy specimens of 104 patients with creatine kinase activity greater than 500 UI/L (normal 10 to 170 UI/L) without signs of muscle weakness. They achieved a definite or probable diagnosis in 55% of cases. The most freque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bde2331f49f74f980687c546a0fbc97
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000237706900030&KeyUID=WOS:000237706900030
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000237706900030&KeyUID=WOS:000237706900030
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