SPG11 spastic paraplegia-Reference-Cited by-同舟云学术

SPG11 spastic paraplegia

Published:2009-01 Issue:1 Volume:256 Page:104-108
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Anheim Mathieu,Lagier-Tourenne Clotilde,Stevanin Giovanni,Fleury Marie,Durr Alexandra,Namer Izzie Jacques,Denora Paola,Brice Alexis,Mandel Jean Louis,Koenig Michel,Tranchant Christine

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-009-0083-3.pdf

Reference19 articles.

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2. Coutinho P, Barros J, Zemmouri R, Guimaraes J, Alves C, Chorao R, Lourenco E, Ribeiro P, Loureiro JL, Santos JV, Hamri A, Paternotte C, Hazan J, Silva MC, Prud’homme JF, Grid D (1999) Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families. Arch Neurol 56:943–949

3. Del Bo R, Di Fonzo A, Ghezzi S, Locatelli F, Stevanin G, Costa A, Corti S, Bresolin N, Comi GP (2007) SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation. Neurogenetics 8:301–305

4. Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol 62:656–665

5. Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA (2002) The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuro pathy associated with agenesis of the corpus callosum. Nature Gen 32:384–392

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