-
1
-
-
31544466788
-
Hereditary spastic paraplegia
-
Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 2006;6:65-76.
-
(2006)
Curr Neurol Neurosci Rep
, vol.6
, pp. 65-76
-
-
Fink, J.K.1
-
2
-
-
0034163576
-
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
-
Fonknechten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000;1:637-644.
-
(2000)
Hum Mol Genet
, vol.1
, pp. 637-644
-
-
Fonknechten, N.1
Mavel, D.2
Byrne, P.3
-
3
-
-
28544451584
-
Spastin mutations in sporadic adult-onset upper motor neuron syndromes
-
Brugman F, Wokke JH, Scheffer H, Versteeg MH, Sistermans EA, van den Berg LH. Spastin mutations in sporadic adult-onset upper motor neuron syndromes. Ann Neurol 2005;58:865-869.
-
(2005)
Ann Neurol
, vol.58
, pp. 865-869
-
-
Brugman, F.1
Wokke, J.H.2
Scheffer, H.3
Versteeg, M.H.4
Sistermans, E.A.5
van den Berg, L.H.6
-
4
-
-
33645114694
-
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
-
Depienne C, Tallaksen C, Lephay JY, et al. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. J Med Genet 2006;43:259-265.
-
(2006)
J Med Genet
, vol.43
, pp. 259-265
-
-
Depienne, C.1
Tallaksen, C.2
Lephay, J.Y.3
-
5
-
-
0032708407
-
Hereditary spastic paraplegia: Heterogeneity and genotype/phenotype correlation
-
Fink JK, Hedera P. Hereditary spastic paraplegia: heterogeneity and genotype/phenotype correlation. Semin Neurol 1999;19:301-310.
-
(1999)
Semin Neurol
, vol.19
, pp. 301-310
-
-
Fink, J.K.1
Hedera, P.2
-
6
-
-
33847298447
-
Mutations in SPG11, encoding spatascin, are a major cause of spastic paraplegia with thin corpus callosum
-
Stevanin G, Santorelli FM, Azzedine H, et al. Mutations in SPG11, encoding spatascin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007;39:366-372.
-
(2007)
Nat Genet
, vol.39
, pp. 366-372
-
-
Stevanin, G.1
Santorelli, F.M.2
Azzedine, H.3
-
7
-
-
33746054137
-
Spastic paraplegia with thin corpus callosum: Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
-
Stevanin G, Montagna G, Azzedine H, et al. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics 2006;7:149-156.
-
(2006)
Neurogenetics
, vol.7
, pp. 149-156
-
-
Stevanin, G.1
Montagna, G.2
Azzedine, H.3
-
8
-
-
0345279856
-
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15
-
Martinez Murillo F, Kobayashi H, Pegoraro E, et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 1999;53: 50-56.
-
(1999)
Neurology
, vol.53
, pp. 50-56
-
-
Martinez Murillo, F.1
Kobayashi, H.2
Pegoraro, E.3
-
9
-
-
42049108597
-
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia
-
Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology 2008;70:1384-1389.
-
(2008)
Neurology
, vol.70
, pp. 1384-1389
-
-
Paisan-Ruiz, C.1
Dogu, O.2
Yilmaz, A.3
Houlden, H.4
Singleton, A.5
-
10
-
-
34447543943
-
The genetics of hereditary spastic paraplegia and implications for drug therapy
-
Zuchner S. The genetics of hereditary spastic paraplegia and implications for drug therapy. Exp Opin Pharmacother 2007;8:1433-1439.
-
(2007)
Exp Opin Pharmacother
, vol.8
, pp. 1433-1439
-
-
Zuchner, S.1
|