999 resultados para Chimay Jeanne Marie Ignace Therése (de Caburrus) princess de, 1773-1835.
Resumo:
Acquis le 11 décembre 1830 de M. de Montmerqué de Paris par échange; cf. B.n.F., département des Manuscrits, registre des acquisitions 1828-1833, n° 78 "il a donné les procès verbaux et autres pièces originales, relatifs à la canonisation de la reine Jeanne de France de la branche de Valois fille de Louis XI et femme de Louis XII, contre quinze signatures anciennes"; — note autographe "(...) ces pièces ont été préservées de la destruction par le soussigné. Il prie messieurs les bibliothéquaires et conservateurs de la Bibliothèque du roi d'en agréer l'offre et de les réunir aux manuscrits qui concernent l'histoire de France. A Paris le 11 décembre 1830. Montmerqué, conseiller à la C. royale de Paris" (1)
Resumo:
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders of the peripheral nervous system, mainly characterized by distal muscle weakness and atrophy leading to motor handicap. With an estimated prevalence of 1 in 2,500, this condition is one of the most commonly inherited neurological disorders. Mutations in more than 30 genes affecting glial and/or neuronal functions have been associated with different forms of CMT leading to a substantial improvement in diagnostics of the disease and in the understanding of implicated pathophysiological mechanisms. However, recent data from systematic genetic screening performed in large cohorts of CMT patients indicated that molecular diagnosis could be established only in ∼50-70% of them, suggesting that additional genes are involved in this disease. In addition to providing an overview of genetic and functional data concerning various CMT forms, this review focuses on recent data generated through the use of highly parallel genetic technologies (SNP chips, sequence capture and next-generation DNA sequencing) in CMT families, and the current and future impact of these technologies on gene discovery and diagnostics of CMTs.
