Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Nathalie, Martini"'
Autor:
Emilien Delmont, T Benquey, Nathalie Bonello-Palot, S. Attarian, L. Kouton, Nathalie Martini, Nicolas Lévy, E Fockens
Publikováno v:
Journal of neuromuscular diseases. 7(4)
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder commonly presenting with acute-onset, non-painful focal sensory and motor mono neuropathy. In 80% of cases, the genetic defect is a 1.5 Mb del
Autor:
Juliette Bacquet, Nathalie Martini, Emmanuelle Salort-Campana, Tanya Stojkovic, Jean-Pierre Desvignes, Annie Verschueren, Valérie Delague, Annabelle Chaussenot, Amandine Boyer, Shahram Attarian, Frédérique Audic, Nicolas Lévy, Emilien Delmont, Brigitte Chabrol, Nathalie Bonello-Palot
Publikováno v:
BMJ Open
BMJ Open, BMJ Publishing Group, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩
BMJ Open, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩
BMJ Open, BMJ Publishing Group, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩
BMJ Open, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩
PurposeInherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to scree
Autor:
Nathalie Martini, Sébastien Courrier, Alain Verloes, Lydie Burglen, B. Leheup, Catherine Badens, Sylvie Odent, H Van Esch, Fabienne Giuliano, Nicole Philip, Arnold Munnich, Nicolas Lévy, Caroline Lacoste
Publikováno v:
Clinical Genetics. 70:57-62
Mutations in ATRX are associated with a wide and clinically heterogeneous spectrum of X-linked mental retardation syndromes. The ATRX protein, involved in chromatin remodelling, belongs to the family of SWI/SNF DNA helicases and contains a plant home
Autor:
Nathalie Martini, Patrick Edery, Vincent Desportes, Catherine Badens, Renaud Touraine, Nicolas Lévy, Sébastien Courrier
Publikováno v:
American Journal of Medical Genetics Part A. :2212-2215
Mutations in the X-encoded gene ATRX are known to give rise to syndromic mental retardation in male patients whereas female carriers show preferential inactivation of the mutated X chromosome and appear healthy. Here, we describe a 4-year-old girl wi
Autor:
Caroline Lacoste, Catherine Badens, V Malaty-Brevaud, Edwin P. Kirk, K Maclean, Leo Davies, Nathalie Martini, Nicolas Lévy, Nicole Philip
Publikováno v:
Clinical genetics. 75(3)
Autor:
Catherine, Badens, Francoise, Merono, Nathalie, Martini, Danielle, Lena-Russo, Beatrice, Gulbis, Isabelle, Thuret
Publikováno v:
Haematologica. 87(11)