Sporadically occurring neurologic disease HSP genes and apparently sporadic spastic paraplegia

被引:7
作者
Fink, John K. [1 ,2 ]
机构
[1] Univ Michigan, Dept Neurol, Ann Arbor, MI USA
[2] Ann Arbor Vet Affairs Med Ctr, Geriatr Res Educ & Clin Ctr, Ann Arbor, MI USA
关键词
D O I
10.1212/01.wnl.0000334294.99658.2d
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:1468 / 1469
页数:2
相关论文
共 7 条
[1]   A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia [J].
Arnoldi, Alessia ;
Tonelli, Alessandra ;
Crippa, Francesca ;
Villani, Gaetano ;
Pacelli, Consiglia ;
Sironi, Manuela ;
Pozzoli, Uberto ;
D'Angelo, Maria Grazia ;
Meola, Giovanni ;
Martinuzzi, Andrea ;
Crimella, Claudia ;
Redaelli, Francesca ;
Panzeri, Chris ;
Renieri, Alessandra ;
Comi, Giacomo Pietro ;
Turconi, Anna Carla ;
Bresolin, Nereo ;
Bassi, Maria Teresa .
HUMAN MUTATION, 2008, 29 (04) :522-531
[2]   Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes [J].
Brugman, F. ;
Scheffer, H. ;
Wokke, J. H. J. ;
Nillesen, W. M. ;
de Visser, M. ;
Aronica, E. ;
Veldink, J. H. ;
van den Berg, L. H. .
NEUROLOGY, 2008, 71 (19) :1500-1505
[3]   Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease [J].
Casari, G ;
De Fusco, M ;
Ciarmatori, S ;
Zeviani, M ;
Mora, M ;
Fernandez, P ;
De Michele, G ;
Filla, A ;
Cocozza, S ;
Marconi, R ;
Dürr, A ;
Fontaine, B ;
Ballabio, A .
CELL, 1998, 93 (06) :973-983
[4]   A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 [J].
De Michele, G ;
De Fusco, M ;
Cavalcanti, F ;
Filla, A ;
Marconi, R ;
Volpe, G ;
Monticelli, A ;
Ballabio, A ;
Casari, G ;
Cocozza, S .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (01) :135-139
[5]  
FINK JK, 2007, EMERY RIMOINS PRINCI, P2771
[6]   Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England [J].
McDermott, CJ ;
Dayaratne, RK ;
Tomkins, J ;
Lusher, ME ;
Lindsey, JC ;
Johnson, MA ;
Casari, G ;
Turnbull, DM ;
Bushby, K ;
Shaw, PJ .
NEUROLOGY, 2001, 56 (04) :467-471
[7]   A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia [J].
Wilkinson, PA ;
Crosby, AH ;
Turner, C ;
Bradley, LJ ;
Ginsberg, L ;
Wood, NW ;
Schapira, AH ;
Warner, TT .
BRAIN, 2004, 127 :973-980