Prevalence of inherited ataxias in the province of Padua, Italy
作者： M. Zortea , M. Armani , E. Pastorello , G.F. Nunez , S. Lombardi
DOI: 10.1159/000080092
关键词:
摘要: Few population studies are available on epidemiological indexes of hereditary ataxias. An investigation the prevalence rate these movement disorders is in progress for Veneto region, mai
elsevier.com
sci-hub.se 参考文章(46)
A Filla, P Menozzi, G Campanella, G Uziel, G Romeo, A Ferlini, S Di Donato, S Fadda, B Lucci, L Capodaglio, Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. American Journal of Human Genetics. ,vol. 35, pp. 523- 529 ,(1983)
Susan E Holmes, Elizabeth E O'Hearn, Melvin G McInnis, Daniel A Gorelick-Feldman, John J Kleiderlein, Colleen Callahan, Noeun G Kwak, Roxann G Ingersoll-Ashworth, Meeia Sherr, August J Sumner, Alan H Sharp, Uma Ananth, William K Seltzer, Michael A Boss, Ana-Maria Vieria-Saecker, Jörg T Epplen, Olaf Riess, Christopher A Ross, Russell L Margolis, Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nature Genetics. ,vol. 23, pp. 391- 392 ,(1999) , 10.1038/70493
R. Matsumura, N. Futamura, N. Ando, S. Ueno, Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan. Acta Neurologica Scandinavica. ,vol. 107, pp. 38- 41 ,(2003) , 10.1034/J.1600-0404.2003.01347.X
F. Brignolio, M. Leone, A. Tribolo, M. G. Rosso, P. Meineri, D. Schiffer, Prevalence of hereditary ataxias and paraplegias in the province of Torino, Italy. Italian Journal of Neurological Sciences. ,vol. 7, pp. 431- 435 ,(1986) , 10.1007/BF02283021
Alessandro Filla, Giuseppe De Michele, Roberto Marconi, Luigi Bucci, Carmine Carillo, Anna Elisa Castellano, Lucio Iorio, Claudio Kniahynicki, Francesco Rossi, Giuseppe Campanella, Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. Journal of Neurology. ,vol. 239, pp. 351- 353 ,(1992) , 10.1007/BF00867594
Massimo Pandolfo, Friedreich Ataxia Archives of Neurology. ,vol. 59, pp. 743- 747 ,(2002) , 10.1001/ARCHNEUR.59.5.743
Carlo P Trevisan, Ebe Pastorello, Simone Tonello, Mario Armani, Maria T Rigoni, Alma P Tormene, Maria P Freda, Michela Zortea, Stefania Lombardi, Ataxia and Congenital Muscular Dystrophy: the follow-up of a new specific phenotype Brain & Development. ,vol. 23, pp. 108- 114 ,(2001) , 10.1016/S0387-7604(01)00187-5
P Giunti, G Sabbadini, MG Sweeney, MB Davis, L Veneziano, E Mantuano, A Federico, R Plasmati, M Frontali, NW Wood, The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain. ,vol. 121, pp. 459- 467 ,(1998) , 10.1093/BRAIN/121.3.459
Hidenao Sasaki, Ichiro Yabe, Isao Yamashita, Kunio Tashiro, Prevalence of triplet repeat expansion in ataxia patients from Hokkaido, the northernmost island of Japan. Journal of the Neurological Sciences. ,vol. 175, pp. 45- 51 ,(2000) , 10.1016/S0022-510X(00)00313-0
Laura Bannach Jardim, Isabel Silveira, Maria Luzia Pereira, Anabela Ferro, Isabel Alonso, Maria do Céu Moreira, Pedro Mendonça, Fátima Ferreirinha, Jorge Sequeiros, Roberto Giugliani, None, A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. Journal of Neurology. ,vol. 248, pp. 870- 876 ,(2001) , 10.1007/S004150170072