Guicheney P - Search Results

1

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.

Bitoun M, Stojkovic T, Prudhon B, Maurage CA, Latour P, Vermersch P, Guicheney P. Bitoun M, et al. Among authors: guicheney p. Neuromuscul Disord. 2008 Apr;18(4):334-8. doi: 10.1016/j.nmd.2008.01.005. Epub 2008 Apr 3. Neuromuscul Disord. 2008. PMID: 18394888

2

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.

Bitoun M, Bevilacqua JA, Prudhon B, Maugenre S, Taratuto AL, Monges S, Lubieniecki F, Cances C, Uro-Coste E, Mayer M, Fardeau M, Romero NB, Guicheney P. Bitoun M, et al. Among authors: guicheney p. Ann Neurol. 2007 Dec;62(6):666-70. doi: 10.1002/ana.21235. Ann Neurol. 2007. PMID: 17932957

3

Dynamin 2 and human diseases.

Durieux AC, Prudhon B, Guicheney P, Bitoun M. Durieux AC, et al. Among authors: guicheney p. J Mol Med (Berl). 2010 Apr;88(4):339-50. doi: 10.1007/s00109-009-0587-4. Epub 2010 Feb 3. J Mol Med (Berl). 2010. PMID: 20127478 Review.

4

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.

Bitoun M, Bevilacqua JA, Eymard B, Prudhon B, Fardeau M, Guicheney P, Romero NB. Bitoun M, et al. Among authors: guicheney p. Neurology. 2009 Jan 6;72(1):93-5. doi: 10.1212/01.wnl.0000338624.25852.12. Neurology. 2009. PMID: 19122038 No abstract available.

5

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Bitoun M, et al. Among authors: guicheney p. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.

6

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

Fischer D, Herasse M, Bitoun M, Barragán-Campos HM, Chiras J, Laforêt P, Fardeau M, Eymard B, Guicheney P, Romero NB. Fischer D, et al. Among authors: guicheney p. Brain. 2006 Jun;129(Pt 6):1463-9. doi: 10.1093/brain/awl071. Epub 2006 Apr 3. Brain. 2006. PMID: 16585051

7

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, Guicheney P, Buj-Bello A, Bönnemann C, Muntoni F. Jungbluth H, et al. Among authors: guicheney p. Neuromuscul Disord. 2007 Apr;17(4):338-45. doi: 10.1016/j.nmd.2007.01.016. Epub 2007 Mar 21. Neuromuscul Disord. 2007. PMID: 17376685

8

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

Bitoun M, Durieux AC, Prudhon B, Bevilacqua JA, Herledan A, Sakanyan V, Urtizberea A, Cartier L, Romero NB, Guicheney P. Bitoun M, et al. Among authors: guicheney p. Hum Mutat. 2009 Oct;30(10):1419-27. doi: 10.1002/humu.21086. Hum Mutat. 2009. PMID: 19623537

9

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, García-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN. Susman RD, et al. Among authors: guicheney p. Neuromuscul Disord. 2010 Apr;20(4):229-37. doi: 10.1016/j.nmd.2010.02.016. Epub 2010 Mar 12. Neuromuscul Disord. 2010. PMID: 20227276

10

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Lainé J, Romero NB, Guicheney P, Bitoun M. Durieux AC, et al. Among authors: guicheney p. Hum Mol Genet. 2010 Dec 15;19(24):4820-36. doi: 10.1093/hmg/ddq413. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858595

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