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Documents disponibles écrits par cet auteur (21)
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies
Frankel D, Delecourt V, Harhouri K, et al.
Aging cell, 2018
Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation
Blondel S, Egesipe AL, Picardi P, et al.
Cell death & disease, 2016, 7
A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene
Ambrosi P, Kreitmann B, Lepidi H, et al.
International journal of cardiology, 2016, 209, p 317
Première réunion franco-italienne des laminopathies et autres pathologies liées à l'enveloppe nucléaire : First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope
Yaou RB, de Sandre-Giovannoli A, Leturq F, et al.
médecine/sciences, 2015, 31, HS3, p 39
Truncated prelamin A expression in HGPS-like patients: a transcriptional study
Barthelemy F, Navarro C, Fayek R, et al.
European journal of human genetics, 2015, 23, 8, p 1051
Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with Hutchinson-Gilford progeria syndrome
Blondel S, Jaskowiak AL, Egesipe AL, et al.
Stem cells translational medicine, 2014, 3, 4, p 510
Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA
Nissan X, Blondel S, Navarro C, et al.
Cell reports, 2012, 2, 1, p 1
Lipodystrophie et séropositivité VIH : qaund la génétique s'en mêle...
Salort-Campana E, Pouget J, Attarian S, et al.
Les Cahiers de Myologie, 2011, 5, p. 15-16
Splicing-directed therapy in a new mouse model of human accelerated aging
Osorio FG, Navarro CL, Lopez-Mejia IC, et al.
Science translational medicine, 2011, 3, 106,ra107, 11 p., p. 106
Colloque Jeunes Chercheurs : Actes de colloque 12 Juin 2009, Centre de conférence Génocentre Evry
Collectif, Gendrel M, Ménard J, et al.
AFM-TELETHON, 2009, 58 p
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa
Hamadouche T, Poitelon Y, Génin E, et al.
Annals of human genetics, 2008, 72, Pt 5, p. 590-597
Molecular study of autosomal recessive hereditary motor and sensory neuropathies in a panel of 150 algerian families
Hamadouche T, Delague V, de Sandre-Giovannoli A, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 404
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies
Bernard R, de Sandre-Giovannoli A, Delague V
Neuromolecular medicine, 2006, 8, 1-2, p. 87-106
Congenital myopathy with arthrogryposis and atypical progeria arising from FACE1 homozygous mutation. Lamins A/C processing pathway is also involved in muscle disease (abstract : congrès international de Myologie, 2005)
Ben Yaou R, Navarro C, Massart C, et al.
Congrès : Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France)
2005, p. 250
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
Navarro CL, Cadinanos J, de Sandre-Giovannoli A, et al.
Human molecular genetics, 2005, 14, 11, p 1503
Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes
Aubourg P, Krahn M, Bernard R, et al.
Journal of medical genetics, 2005, 42, 3, p 253
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
de Sandre-Giovannoli A, Delague V, Hamadouche T, et al.
Journal of medical genetics, 2005, 42, 3, p. 260-265
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
de Sandre-Giovannoli A, Chaouch M, Boccaccio I, et al.
Journal of medical genetics, 2003, 40, 7, p. e87
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
Chaouch M, Allal Y, de Sandre-Giovannoli A, et al.
Neuromuscular disorders : NMD, 2003, 13, p. 60-67
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
de Sandre-Giovannoli A, Chaouch M, Kozlov S, et al.
American journal of human genetics (The), 2002, 70, 3, p. 726-736
