-
1
-
-
0027759812
-
Hereditary spastic paraplegias. [Review]
-
Harding AE. Hereditary spastic paraplegias. [Review]. Semin Neurol. 1993;13:333-6.
-
(1993)
Semin Neurol
, vol.13
, pp. 333-336
-
-
Harding, A.E.1
-
2
-
-
0037328987
-
Science in motion: Common molecular pathological themes emerge in the hereditary spastic paraplegias
-
Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet. 2003;40:81-6.
-
(2003)
J Med Genet
, vol.40
, pp. 81-86
-
-
Reid, E.1
-
3
-
-
0242270591
-
Advances in the hereditary spastic paraplegias
-
Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol. 2003;184 Suppl 1:S106-10.
-
(2003)
Exp Neurol
, vol.184
, Issue.SUPPL. 1
-
-
Fink, J.K.1
-
4
-
-
0242691095
-
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
-
Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, et al. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet. 2003;73:1147-56.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1147-1156
-
-
Simpson, M.A.1
Cross, H.2
Proukakis, C.3
Pryde, A.4
Hershberger, R.5
Chatonnet, A.6
-
5
-
-
0037168804
-
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14
-
Hodgkinson CA, Bohlega S, Abu-Amero SN, Cupler E, Kambouris M, Meyer BF, et al. A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology. 2002;59:1905-9.
-
(2002)
Neurology
, vol.59
, pp. 1905-1909
-
-
Hodgkinson, C.A.1
Bohlega, S.2
Abu-Amero, S.N.3
Cupler, E.4
Kambouris, M.5
Meyer, B.F.6
-
6
-
-
33745107260
-
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
-
Jun
-
Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, et al. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain. 2006; Jun 129(Pt 6):1456-6.
-
(2006)
Brain
, vol.129
, Issue.PART 6
, pp. 1456-1456
-
-
Klebe, S.1
Azzedine, H.2
Durr, A.3
Bastien, P.4
Bouslam, N.5
Elleuch, N.6
-
7
-
-
33646406586
-
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12
-
Zuchner S, Kail ME, Nance MA, Gaskell PC, Svenson IK, Marchuk DA, et al. A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. Neurogenetics. 2006;7:127-9.
-
(2006)
Neurogenetics
, vol.7
, pp. 127-129
-
-
Zuchner, S.1
Kail, M.E.2
Nance, M.A.3
Gaskell, P.C.4
Svenson, I.K.5
Marchuk, D.A.6
-
8
-
-
0036844683
-
Is the transportation highway the right road for hereditary spastic paraplegia?
-
Crosby AH, Proukakis C. Is the transportation highway the right road for hereditary spastic paraplegia? Am J Hum Genet. 2002;71:1009-16.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1009-1016
-
-
Crosby, A.H.1
Proukakis, C.2
-
9
-
-
0142122897
-
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
-
Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet. 2003;73:967-71.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 967-971
-
-
Rainier, S.1
Chai, J.H.2
Tokarz, D.3
Nicholls, R.D.4
Fink, J.K.5
-
10
-
-
10344241450
-
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2
-
Durr A, Davoine CS, Paternotte C, von Fellenberg J, Cogilinicean S, Coutinho P et al. Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain. 1996;119 (Pt 5):1487-96.
-
(1996)
Brain
, vol.119
, Issue.PART 5
, pp. 1487-1496
-
-
Durr, A.1
Davoine, C.S.2
Paternotte, C.3
von Fellenberg, J.4
Cogilinicean, S.5
Coutinho, P.6
-
11
-
-
28444437387
-
Traffic accidents: Molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias
-
Soderblom C, Blackstone C. Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias. Pharmacol Ther. 2006;109:42-56.
-
(2006)
Pharmacol Ther
, vol.109
, pp. 42-56
-
-
Soderblom, C.1
Blackstone, C.2
-
12
-
-
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, Bricka B, Poea-Guyon S, Fontaine B, 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;43:259-65.
-
(2006)
J Med Genet
, vol.43
, pp. 259-265
-
-
Depienne, C.1
Tallaksen, C.2
Lephay, J.Y.3
Bricka, B.4
Poea-Guyon, S.5
Fontaine, B.6
-
13
-
-
0037081740
-
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
-
Errico A, Ballabio A, Rugarli E. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet. 2002;15:153-63.
-
(2002)
Hum Mol Genet
, vol.15
, pp. 153-163
-
-
Errico, A.1
Ballabio, A.2
Rugarli, E.3
-
14
-
-
17144424690
-
The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules
-
Roll-Mecak A, Vale RD. The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules. Curr Biol. 2005;15:650-5.
-
(2005)
Curr Biol
, vol.15
, pp. 650-655
-
-
Roll-Mecak, A.1
Vale, R.D.2
-
15
-
-
0032721512
-
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
-
Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. 1999;23:296-303.
-
(1999)
Nat Genet
, vol.23
, pp. 296-303
-
-
Hazan, J.1
Fonknechten, N.2
Mavel, D.3
Paternotte, C.4
Samson, D.5
Artiguenave, F.6
-
16
-
-
0034649471
-
Novel mutations in spastin gene and absence of correlation with age at onset of symptoms
-
Hentati A, Deng HX, Zhai H, Chen W, Yang Y, Hung WY et al. Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology. 2000;55:1388-90.
-
(2000)
Neurology
, vol.55
, pp. 1388-1390
-
-
Hentati, A.1
Deng, H.X.2
Zhai, H.3
Chen, W.4
Yang, Y.5
Hung, W.Y.6
-
17
-
-
0033781121
-
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
-
Burger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, et al. Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur J Hum Genet. 2000;8:771-6.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 771-776
-
-
Burger, J.1
Fonknechten, N.2
Hoeltzenbein, M.3
Neumann, L.4
Bratanoff, E.5
Hazan, J.6
-
18
-
-
0034163576
-
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
-
Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bonsch D, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet. 2000;9:637-44.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 637-644
-
-
Fonknechten, N.1
Mavel, D.2
Byrne, P.3
Davoine, C.S.4
Cruaud, C.5
Bonsch, D.6
-
19
-
-
0141609165
-
Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class
-
Yip AG, Durr A, Marchuk DA, Ashley-Koch A, Hentati A, Rubinsztein DC, et al. Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. J Med Genet. 2003;40:e106.
-
(2003)
J Med Genet
, vol.40
-
-
Yip, A.G.1
Durr, A.2
Marchuk, D.A.3
Ashley-Koch, A.4
Hentati, A.5
Rubinsztein, D.C.6
-
20
-
-
0036483811
-
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia
-
Meijer I, Hand C, Cossette P, Figlewicz D, Rouleau G. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol. 2002;59:281-6.
-
(2002)
Arch Neurol
, vol.59
, pp. 281-286
-
-
Meijer, I.1
Hand, C.2
Cossette, P.3
Figlewicz, D.4
Rouleau, G.5
-
21
-
-
4844227593
-
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1
-
Meijer IA, Cossette P, Roussel J, Benard M, Toupin S, Rouleau GA. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann Neurol. 2004;56:579-82.
-
(2004)
Ann Neurol
, vol.56
, pp. 579-582
-
-
Meijer, I.A.1
Cossette, P.2
Roussel, J.3
Benard, M.4
Toupin, S.5
Rouleau, G.A.6
-
22
-
-
33746798981
-
Clinical features of hereditary spastic paraplegia due to spastin mutation
-
McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, et al. Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology. 2006;67:45-51.
-
(2006)
Neurology
, vol.67
, pp. 45-51
-
-
McDermott, C.J.1
Burness, C.E.2
Kirby, J.3
Cox, L.E.4
Rao, D.G.5
Hewamadduma, C.6
-
23
-
-
33646420618
-
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia
-
Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, et al. Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. Arch Neurol. 2006;63:750-5.
-
(2006)
Arch Neurol
, vol.63
, pp. 750-755
-
-
Crippa, F.1
Panzeri, C.2
Martinuzzi, A.3
Arnoldi, A.4
Redaelli, F.5
Tonelli, A.6
-
24
-
-
18444378149
-
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
-
Sauter S, Miterski B, Klimpe S, Bonsch D, Schols L, Visbeck A, et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat. 2002;20:127-32.
-
(2002)
Hum Mutat
, vol.20
, pp. 127-132
-
-
Sauter, S.1
Miterski, B.2
Klimpe, S.3
Bonsch, D.4
Schols, L.5
Visbeck, A.6
-
25
-
-
33645114694
-
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
-
Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribai P, Feki I, et al. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet. 2006;43:259-65.
-
(2006)
J Med Genet
, vol.43
, pp. 259-265
-
-
Depienne, C.1
Fedirko, E.2
Forlani, S.3
Cazeneuve, C.4
Ribai, P.5
Feki, I.6
-
26
-
-
25144485002
-
Population history and its impact on medical genetics in Quebec
-
Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, Brais B, et al. Population history and its impact on medical genetics in Quebec. Clin Genet. 2005;68:287-301.
-
(2005)
Clin Genet
, vol.68
, pp. 287-301
-
-
Laberge, A.M.1
Michaud, J.2
Richter, A.3
Lemyre, E.4
Lambert, M.5
Brais, B.6
-
27
-
-
33744902342
-
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population
-
Dupre N, Bouchard J-P, Brais B, Rouleau GA. Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. Can J Neurol Sci. 2006;33:149-57.
-
(2006)
Can J Neurol Sci
, vol.33
, pp. 149-157
-
-
Dupre, N.1
Bouchard, J.-P.2
Brais, B.3
Rouleau, G.A.4
-
28
-
-
17044441365
-
Clouston hidrotic ectodermal dysplasia (HED): Genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping
-
Kibar Z, Dube MP, Powell J, McCuaig C, Hayflick SJ, Zonana J, et al. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Eur J Hum Genet. 2000;8:372-80.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 372-380
-
-
Kibar, Z.1
Dube, M.P.2
Powell, J.3
McCuaig, C.4
Hayflick, S.J.5
Zonana, J.6
-
29
-
-
2942590954
-
Hereditary spastic paraplegia: Clinical genetic study of 15 families
-
Orlacchio A, Kawarai T, Totaro A, Errico A, St George-Hyslop PH, Rugarli EI, et al. Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol. 2004;61:849-55.
-
(2004)
Arch Neurol
, vol.61
, pp. 849-855
-
-
Orlacchio, A.1
Kawarai, T.2
Totaro, A.3
Errico, A.4
St George-Hyslop, P.H.5
Rugarli, E.I.6
-
30
-
-
33646391969
-
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene
-
Namekawa M, Nelson I, Ribai P, Durr A, Denis E, Stevanin G, et al. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics. 2006;7:131-2.
-
(2006)
Neurogenetics
, vol.7
, pp. 131-132
-
-
Namekawa, M.1
Nelson, I.2
Ribai, P.3
Durr, A.4
Denis, E.5
Stevanin, G.6
-
31
-
-
10844278272
-
Hereditary spastic paraplegia with cerebellar ataxia: A complex phenotype associated with a new SPG4 gene mutation
-
Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Gronbech-Jensen M, Law I, et al. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Eur J Neurol. 2004;11:817-24.
-
(2004)
Eur J Neurol
, vol.11
, pp. 817-824
-
-
Nielsen, J.E.1
Johnsen, B.2
Koefoed, P.3
Scheuer, K.H.4
Gronbech-Jensen, M.5
Law, I.6
-
32
-
-
22044432063
-
-
Meyer T, Schwan A, Dullinger JS, Brocke J, Hoffmann KT, Nolte CH, et al. Early-onset ALS with long-term survival associated with spastin gene mutation. Neurology. 2005;65:141-3.
-
Meyer T, Schwan A, Dullinger JS, Brocke J, Hoffmann KT, Nolte CH, et al. Early-onset ALS with long-term survival associated with spastin gene mutation. Neurology. 2005;65:141-3.
-
-
-
-
33
-
-
24044524225
-
Spastin related hereditary spastic paraplegia with dysplastic corpus callosum
-
Alber B, Pernauer M, Schwan A, Rothmund G, Hoffmann KT, Brummer D, et al. Spastin related hereditary spastic paraplegia with dysplastic corpus callosum. J Neurol Sci. 2005;236:9-12.
-
(2005)
J Neurol Sci
, vol.236
, pp. 9-12
-
-
Alber, B.1
Pernauer, M.2
Schwan, A.3
Rothmund, G.4
Hoffmann, K.T.5
Brummer, D.6
-
34
-
-
2642582687
-
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection
-
Nielsen JE, Koefoed P, Kjaergaard S, Jensen LN, Norremolle A, Hasholt L. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. Prenat Diagn. 2004;24:363-6.
-
(2004)
Prenat Diagn
, vol.24
, pp. 363-366
-
-
Nielsen, J.E.1
Koefoed, P.2
Kjaergaard, S.3
Jensen, L.N.4
Norremolle, A.5
Hasholt, L.6
-
35
-
-
27644498533
-
Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine
-
Orso G, Martinuzzi A, Rossetto MG, Sartori E, Feany M, Daga A. Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine. J Clin Invest. 2005;115:3026-34.
-
(2005)
J Clin Invest
, vol.115
, pp. 3026-3034
-
-
Orso, G.1
Martinuzzi, A.2
Rossetto, M.G.3
Sartori, E.4
Feany, M.5
Daga, A.6
|