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Items: 14

1.

Dysferlin Exon 32 Skipping in Patient Cells.

Barthélémy F, Courrier S, Lévy N, Krahn M, Bartoli M.

Methods Mol Biol. 2018;1828:489-496. doi: 10.1007/978-1-4939-8651-4_31.

PMID:
30171562
2.

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

Gorokhova S, Cerino M, Mathieu Y, Courrier S, Desvignes JP, Salgado D, Béroud C, Krahn M, Bartoli M.

Appl Transl Genom. 2015 Sep 4;7:26-31. doi: 10.1016/j.atg.2015.07.006. eCollection 2015 Dec.

3.

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells.

Barthélémy F, Blouin C, Wein N, Mouly V, Courrier S, Dionnet E, Kergourlay V, Mathieu Y, Garcia L, Butler-Browne G, Lamaze C, Lévy N, Krahn M, Bartoli M.

J Neuromuscul Dis. 2015 Sep 2;2(3):281-290.

4.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.

Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A.

Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30.

5.

Further heterogeneity in myopathy with tubular aggregates?

De Paula AM, Bartoli M, Courrier S, Pouget J, Levy N, Pellissier JF, Figarella-Branger D, Krahn M, Attarian S.

Muscle Nerve. 2012 Dec;46(6):984-5. doi: 10.1002/mus.23509. No abstract available.

PMID:
23225398
6.

High prevalence of laminopathies among patients with metabolic syndrome.

Dutour A, Roll P, Gaborit B, Courrier S, Alessi MC, Tregouet DA, Angelis F, Robaglia-Schlupp A, Lesavre N, Cau P, Lévy N, Badens C, Morange PE.

Hum Mol Genet. 2011 Oct 1;20(19):3779-86. doi: 10.1093/hmg/ddr294. Epub 2011 Jun 30.

PMID:
21724554
7.

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pécheux C, Leturcq F, Cau P, Richard I, Lévy N.

Sci Transl Med. 2010 Sep 22;2(50):50ra69. doi: 10.1126/scitranslmed.3000951.

8.

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies.

Wein N, Krahn M, Courrier S, Bartoli M, Salort-Campana E, Nguyen K, Fernandez C, Pouget J, Fossat C, Depetris D, Leturcq F, Cau P, Levy N.

Neuromuscul Disord. 2010 Jan;20(1):57-60. doi: 10.1016/j.nmd.2009.08.004. Epub 2009 Oct 23.

PMID:
19854055
9.

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P.

Am J Med Genet A. 2006 Oct 15;140(20):2212-5.

PMID:
16955409
10.

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N.

Clin Genet. 2006 Jul;70(1):57-62.

PMID:
16813605
11.

A novel mutation (delAACT) in the tyrosinase gene in a Cameroonian black with type 1A oculocutaneous albinism.

Badens C, Courrier S, Aquaron R.

J Dermatol Sci. 2006 May;42(2):121-4. Epub 2006 Mar 6. No abstract available.

PMID:
16517127
12.

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N.

Hum Mol Genet. 2005 Jun 1;14(11):1503-13. Epub 2005 Apr 20.

PMID:
15843403
13.

Ectomycorrhizal symbiosis affects functional diversity of rhizosphere fluorescent pseudomonads.

Frey-Klett P, Chavatte M, Clausse ML, Courrier S, Le Roux C, Raaijmakers J, Martinotti MG, Pierrat JC, Garbaye J.

New Phytol. 2005 Jan;165(1):317-28.

14.

Desensitization of children to television violence.

Cline VB, Croft RG, Courrier S.

J Pers Soc Psychol. 1973 Sep;27(3):360-5. No abstract available.

PMID:
4741676

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