Zobrazeno 1 - 5
of 5
pro vyhledávání: '"MESH: Friedreich Ataxia"'
Publikováno v:
European Heart Journal-Cardiovascular Imaging
European Heart Journal-Cardiovascular Imaging, Oxford UP, 2012, 13 (4), pp.346-52. ⟨10.1093/ejechocard/jer267⟩
European Heart Journal-Cardiovascular Imaging, Oxford UP, 2012, 13 (4), pp.346-52. ⟨10.1093/ejechocard/jer267⟩
International audience; AIMS: Myocardial involvement in Friedreich's ataxia (FRDA) is characterized by iron deposits, diffuse fibrosis, and focal necrosis. We hypothesized that subclinical left ventricular (LV) dysfunction may occur in 'FRDA patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89a7690ec24c15c1ec62b520b94b2184
https://doi.org/10.1093/ejechocard/jer267
https://doi.org/10.1093/ejechocard/jer267
Autor:
Jean-Christophe Thalabard, Agnès Rötig, Z. Ioav Cabantchik, Serge Gallet, Anne Leroy-Willig, Arnold Munnich, Kim Hanh Le Quan Sang, Daniel Sidi, Francis Brunelle, Nathalie Boddaert
Publikováno v:
Blood
Blood, 2007, 110 (1), pp.401-8. ⟨10.1182/blood-2006-12-065433⟩
Blood, American Society of Hematology, 2007, 110 (1), pp.401-8. ⟨10.1182/blood-2006-12-065433⟩
Blood, American Society of Hematology, 2007, 110 (1), pp.401-8. 〈10.1182/blood-2006-12-065433〉
Blood, 2007, 110 (1), pp.401-8. ⟨10.1182/blood-2006-12-065433⟩
Blood, American Society of Hematology, 2007, 110 (1), pp.401-8. ⟨10.1182/blood-2006-12-065433⟩
Blood, American Society of Hematology, 2007, 110 (1), pp.401-8. 〈10.1182/blood-2006-12-065433〉
International audience; Genetic disorders of iron metabolism and chronic inflammation often evoke local iron accumulation. In Friedreich ataxia, decreased iron-sulphur cluster and heme formation leads to mitochondrial iron accumulation and ensuing ox
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b19d6929c72b42b0a6cf687d6e3b877
https://pubmed.ncbi.nlm.nih.gov/17379741
https://pubmed.ncbi.nlm.nih.gov/17379741
Autor:
Hélène Puccio
Publikováno v:
Deutsche Zeitschrift für Nervenheilkunde / Deutsche Zeitschrift f ur Nervenheilkunde
Deutsche Zeitschrift für Nervenheilkunde / Deutsche Zeitschrift f ur Nervenheilkunde, 2009, 256 Suppl 1, pp.18-24. ⟨10.1007/s00415-009-1004-1⟩
Deutsche Zeitschrift für Nervenheilkunde / Deutsche Zeitschrift f ur Nervenheilkunde, 2009, 256 Suppl 1, pp.18-24. ⟨10.1007/s00415-009-1004-1⟩
International audience; Patients with Friedreich ataxia (FRDA) have severely reduced levels of the mitochondrial protein frataxin, which results from a large GAA triplet-repeat expansion within the frataxin gene (FXN). High evolutionary conservation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cb0afdb6219b41116a3bde3311969d7
https://www.hal.inserm.fr/inserm-00384533
https://www.hal.inserm.fr/inserm-00384533
Autor:
Pascale Ribai, Alain Mallet, Marie-Laure Tanguy, Anne-Sophie Béraud, Michèle Schmitt, Alexandra Durr, Perrine Charles, Françoise Pousset, Michel Koenig, Alexis Brice, Sophie Rivaud-Péchoux, Franchesca Gasparini, Isabelle Le Ber
Publikováno v:
Archives of Neurology-Chigago
Archives of Neurology-Chigago-, American Medical Association, 2007, 64 (4), pp.558-64. ⟨10.1001/archneur.64.4.558⟩
Archives of Neurology-Chigago-, 2007, 64 (4), pp.558-64. ⟨10.1001/archneur.64.4.558⟩
Archives of Neurology-Chigago-, American Medical Association, 2007, 64 (4), pp.558-64. ⟨10.1001/archneur.64.4.558⟩
Archives of Neurology-Chigago-, 2007, 64 (4), pp.558-64. ⟨10.1001/archneur.64.4.558⟩
BACKGROUND: Friedreich ataxia (FA) is the most frequent autosomal recessive cerebellar ataxia. Although the phenotype is well known, disease progression has not been evaluated in a prospective manner. OBJECTIVE: To perform a long-term prospective fol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40cca0763597016a49acd2f51431ee54
https://hal.archives-ouvertes.fr/hal-00166262
https://hal.archives-ouvertes.fr/hal-00166262
Autor:
Delphine Simon, Ariane Hertzog, Pawel Golik, Hervé Seznec, Jean-Claude Drapier, Michel Koenig, Cécile Bouton, Vincent Procaccio, Manisha Patel, Hélène Puccio, Laurence Reutenauer
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2005, 14 (4), pp.463-74. ⟨10.1093/hmg/ddi042⟩
Human Molecular Genetics, Oxford University Press (OUP), 2005, 14 (4), pp.463-74. ⟨10.1093/hmg/ddi042⟩
International audience; Friedreich ataxia (FRDA) results from a generalized deficiency of mitochondrial and cytosolic iron-sulfur protein activity initially ascribed to mitochondrial iron overload. Recent in vitro data suggest that frataxin is necess
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e78879c6db549a437b812094e4638f2e
https://pubmed.ncbi.nlm.nih.gov/15615771
https://pubmed.ncbi.nlm.nih.gov/15615771