The spastin jigsaw puzzle - Another missing piece found

被引:1
作者
Hedera, Peter [1 ]
机构
[1] Vanderbilt Univ, Dept Neurol, Ctr Human Genet Res, Nashville, TN 37232 USA
关键词
D O I
10.1212/01.wnl.0000251270.66773.cc
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:1912 / 1913
页数:2
相关论文
共 10 条
[1]   Microtubules cut and run [J].
Baas, PW ;
Karabay, A ;
Qiang, L .
TRENDS IN CELL BIOLOGY, 2005, 15 (10) :518-524
[2]   High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia [J].
Beetz, C. ;
Nygren, A. O. H. ;
Schickel, J. ;
Auer-Grumbach, M. ;
Buerk, K. ;
Heide, G. ;
Kassubek, J. ;
Klimpe, S. ;
Klopstock, T. ;
Kreuz, F. ;
Otto, S. ;
Schuele, R. ;
Schoels, L. ;
Sperfeld, A. -D. ;
Witte, O. W. ;
Deufel, T. .
NEUROLOGY, 2006, 67 (11) :1926-1930
[3]   Alu repeats and human disease [J].
Deininger, PL ;
Batzer, MA .
MOLECULAR GENETICS AND METABOLISM, 1999, 67 (03) :183-193
[4]   Hereditary spastic paraplegia - Spastin phenotype and function [J].
Fink, JK ;
Rainier, S .
ARCHIVES OF NEUROLOGY, 2004, 61 (06) :830-833
[5]   Hereditary spastic paraplegia: Advances in genetic research [J].
Fink, JK ;
HeimanPatterson, T ;
Bird, T ;
Cambi, F ;
Dube, MP ;
Figlewicz, DA ;
Fink, JK ;
Haines, JL ;
HeimanPatterson, T ;
Hentati, A ;
PericakVance, MA ;
Raskind, W ;
Rouleau, GA ;
Siddique, T .
NEUROLOGY, 1996, 46 (06) :1507-1514
[6]   Hereditary spastic paraplegia, genetic heterogeneity and genotype-phenotype correlation [J].
Fink, JK ;
Hedera, P .
SEMINARS IN NEUROLOGY, 1999, 19 (03) :301-309
[7]   Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia [J].
Fonknechten, N ;
Mavel, D ;
Byrne, P ;
Davoine, CS ;
Cruaud, C ;
Boentsch, D ;
Samson, D ;
Coutinho, P ;
Hutchinson, M ;
McMonagle, P ;
Burgunder, JM ;
Tartaglione, A ;
Heinzlef, O ;
Feki, I ;
Deufel, T ;
Parfrey, N ;
Brice, A ;
Fontaine, B ;
Prud'homme, JF ;
Weissenbach, J ;
Dürr, A ;
Hazan, J .
HUMAN MOLECULAR GENETICS, 2000, 9 (04) :637-644
[8]   Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia [J].
Hazan, J ;
Fonknechten, N ;
Mavel, D ;
Paternotte, C ;
Samson, D ;
Artiguenave, F ;
Davoine, CS ;
Cruaud, C ;
Dürr, A ;
Wincker, P ;
Brottier, P ;
Cattolico, L ;
Barbe, V ;
Burgunder, JM ;
Prud'homme, JF ;
Brice, A ;
Fontaine, B ;
Heilig, R ;
Weissenbach, J .
NATURE GENETICS, 1999, 23 (03) :296-303
[9]   MLPA and MAPH: New techniques for detection of gene deletions [J].
Sellner, LN ;
Taylor, GR .
HUMAN MUTATION, 2004, 23 (05) :413-419
[10]   Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia [J].
Zhao, XP ;
Alvarado, D ;
Rainier, S ;
Lemons, R ;
Hedera, P ;
Weber, CH ;
Tukel, T ;
Apak, M ;
Heiman-Patterson, T ;
Ming, L ;
Bui, M ;
Fink, JK .
NATURE GENETICS, 2001, 29 (03) :326-331