Dubourg O - Search Results

1

Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene.

Stojkovic T, de Seze J, Dubourg O, Arne-Bes MC, Tardieu S, Hache JC, Vermersch P. Stojkovic T, et al. Among authors: dubourg o. Clin Neurophysiol. 2003 Sep;114(9):1609-14. doi: 10.1016/s1388-2457(03)00159-7. Clin Neurophysiol. 2003. PMID: 12948789

2

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

Yger M, Stojkovic T, Tardieu S, Maisonobe T, Brice A, Echaniz-Laguna A, Alembik Y, Girard S, Cazeneuve C, Leguern E, Dubourg O. Yger M, et al. Among authors: dubourg o. J Peripher Nerv Syst. 2012 Mar;17(1):112-22. doi: 10.1111/j.1529-8027.2012.00382.x. J Peripher Nerv Syst. 2012. PMID: 22462672

3

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.

Dubourg O, Tardieu S, Birouk N, Gouider R, Léger JM, Maisonobe T, Brice A, Bouche P, LeGuern E. Dubourg O, et al. Brain. 2001 Oct;124(Pt 10):1958-67. doi: 10.1093/brain/124.10.1958. Brain. 2001. PMID: 11571214

4

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

Verny C, Ravisé N, Leutenegger AL, Pouplard F, Dubourg O, Tardieu S, Dubas F, Brice A, Genin E, LeGuern E. Verny C, et al. Among authors: dubourg o. Neurology. 2004 Oct 26;63(8):1527-9. doi: 10.1212/01.wnl.0000142082.65144.ee. Neurology. 2004. PMID: 15505184

5

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E. Bombelli F, et al. Among authors: dubourg o. JAMA Neurol. 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. JAMA Neurol. 2014. PMID: 24957169 Review.

6

Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.

Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castellani V, Rebelo A, Abrams A, Züchner S, Stojkovic T, Schaeffer L, Latour P. Jacquier A, et al. Among authors: dubourg o. Acta Neuropathol Commun. 2017 Jul 14;5(1):55. doi: 10.1186/s40478-017-0457-1. Acta Neuropathol Commun. 2017. PMID: 28709447 Free PMC article.

7

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.

Dubourg O, Tardieu S, Birouk N, Gouider R, Léger JM, Maisonobe T, Brice A, Bouche P, LeGuern E. Dubourg O, et al. Neuromuscul Disord. 2001 Jul;11(5):458-63. doi: 10.1016/s0960-8966(00)00222-4. Neuromuscul Disord. 2001. PMID: 11404117

8

Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.

Guimarães-Costa R, Iancu Ferfoglia R, Leonard-Louis S, Ziegler F, Magy L, Fournier E, Dubourg O, Bouche P, Maisonobe T, Lacour A, Moerman A, Latour P, Stojkovic T. Guimarães-Costa R, et al. Among authors: dubourg o. Eur J Neurol. 2017 Mar;24(3):530-538. doi: 10.1111/ene.13239. Eur J Neurol. 2017. PMID: 28211240

9

The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders.

Pingault V, Bondurand N, Le Caignec C, Tardieu S, Lemort N, Dubourg O, Le Guern E, Goossens M, Boespflug-Tanguy O; Clinical E.N.B.D.D. Clinical European Network on Brain Dysmyelinating Disease. Pingault V, et al. Among authors: dubourg o. J Neurol. 2001 Jun;248(6):496-9. doi: 10.1007/s004150170159. J Neurol. 2001. PMID: 11499640

10

Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.

Ravisé N, Dubourg O, Tardieu S, Aurias F, Mercadiel M, Coullin P, Ruberg M, Catala M, Lesourd S, Brice A, LeGuern E. Ravisé N, et al. Among authors: dubourg o. Am J Med Genet A. 2003 Apr 1;118A(1):43-8. doi: 10.1002/ajmg.a.10190. Am J Med Genet A. 2003. PMID: 12605439

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