-
1
-
-
0030977483
-
Pure hereditary spastic paraplegia
-
Reid E. Pure hereditary spastic paraplegia. Journal of Medical Genetics 1997 34 : 499 503.
-
(1997)
Journal of Medical Genetics
, vol.34
, pp. 499-503
-
-
Reid, 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. Journal of Medical Genetics 2003 40 : 81 86.
-
(2003)
Journal of Medical Genetics
, vol.40
, pp. 81-86
-
-
Reid, E.1
-
3
-
-
0027759812
-
Hereditary spastic paraplegias
-
Harding A. E. Hereditary spastic paraplegias. Seminars in Neurology 1993 13 : 333 336.
-
(1993)
Seminars in Neurology
, vol.13
, pp. 333-336
-
-
Harding, A.E.1
-
5
-
-
24644469037
-
New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1
-
Orlacchio A., Kawarai T., Gaudiello F., St George-Hyslop P. H., Floris R., Bernardi G. New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. Annals of Neurology 2005 58 : 423 429.
-
(2005)
Annals of Neurology
, vol.58
, pp. 423-429
-
-
Orlacchio, A.1
Kawarai, T.2
Gaudiello, F.3
St George-Hyslop, P.H.4
Floris, R.5
Bernardi, G.6
-
6
-
-
34249008076
-
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21
-
Stevanin G., Paternotte C., Coutinho P., et al. A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology 2007 68 : 1837 1840.
-
(2007)
Neurology
, vol.68
, pp. 1837-1840
-
-
Stevanin, G.1
Paternotte, C.2
Coutinho, P.3
-
7
-
-
33845991876
-
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia
-
Valdmanis P. N., Meijer I. A., Reynolds A., et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. American Journal of Human Genetics 2007 80 : 152 161.
-
(2007)
American Journal of Human Genetics
, vol.80
, pp. 152-161
-
-
Valdmanis, P.N.1
Meijer, I.A.2
Reynolds, A.3
-
8
-
-
0033069503
-
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
-
Seri M., Cusano R., Forabosco P., et al. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. American Journal of Human Genetics 1999 6 : 586 593.
-
(1999)
American Journal of Human Genetics
, vol.6
, pp. 586-593
-
-
Seri, M.1
Cusano, R.2
Forabosco, P.3
-
9
-
-
0033776571
-
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2
-
Lo Nigro C., Cusano R., Scaranari M., et al. A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2. European Journal of Human Genetics 2000 8 : 777 782.
-
(2000)
European Journal of Human Genetics
, vol.8
, pp. 777-782
-
-
Lo Nigro, C.1
Cusano, R.2
Scaranari, M.3
-
10
-
-
0029966693
-
Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnomalities: A new syndrome?
-
Slavotinek A., Pike M., Mills K., Hurst J. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnomalities: a new syndrome? American Journal of Medical Genetics 1996 1 : 42 47.
-
(1996)
American Journal of Medical Genetics
, vol.1
, pp. 42-47
-
-
Slavotinek, A.1
Pike, M.2
Mills, K.3
Hurst, J.4
-
11
-
-
4844227593
-
A Novel Locus for Pure Recessive Hereditary Spastic Paraplegia Maps to 10q22.1-10q24.1.
-
Meijer I. A., Cossette P., Roussel J., Benard M., Toupin S., Rouleau G. A. A Novel Locus for Pure Recessive Hereditary Spastic Paraplegia Maps to 10q22.1-10q24.1. Annals of Neurology 2004 56 : 579 582.
-
(2004)
Annals of Neurology
, 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
-
12
-
-
33745521432
-
A new phenotype linked to SPG27 and refinement of the critical region on chromosome
-
Ribai P., Stevanin G., Bouslam N., et al. A new phenotype linked to SPG27 and refinement of the critical region on chromosome. Journal of Neurology 2006 253 : 714 719.
-
(2006)
Journal of Neurology
, vol.253
, pp. 714-719
-
-
Ribai, P.1
Stevanin, G.2
Bouslam, N.3
-
13
-
-
33746536549
-
ZFYVE27 (SPG33), a novel spastin-binding protein is mutated in hereditary spastic paraplegia
-
Mannan A. U., Krawen P., Sauter S. M., et al. ZFYVE27 (SPG33), a novel spastin-binding protein is mutated in hereditary spastic paraplegia. American Journal of Human Genetics 2006 79 : 351 357.
-
(2006)
American Journal of Human Genetics
, vol.79
, pp. 351-357
-
-
Mannan, A.U.1
Krawen, P.2
Sauter, S.M.3
-
14
-
-
0032721512
-
Spastin, a new AAA protein is altered in the most frequent form of autosomal dominant spastic paraplegia
-
Hazan J., Fonknechten N., Mavel D., et al. Spastin, a new AAA protein is altered in the most frequent form of autosomal dominant spastic paraplegia. Nature Genetics 1999 23 : 296 303.
-
(1999)
Nature Genetics
, vol.23
, pp. 296-303
-
-
Hazan, J.1
Fonknechten, N.2
Mavel, D.3
-
15
-
-
18444378149
-
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
-
Sauter S., Miterski B., Klimpe S., et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Human Mutation 2002 20 : 127 132.
-
(2002)
Human Mutation
, vol.20
, pp. 127-132
-
-
Sauter, S.1
Miterski, B.2
Klimpe, S.3
-
16
-
-
0037045428
-
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia
-
Nobile C., Hinzmann B., Scannapieco P., et al. Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia. Gene. 2002 9 : 87 94.
-
(2002)
Gene.
, vol.9
, pp. 87-94
-
-
Nobile, C.1
Hinzmann, B.2
Scannapieco, P.3
-
17
-
-
0036844683
-
Is the transportation highway the right road for hereditary spastic paraplegia?
-
Crosby A. H., Proukakis C. Is the transportation highway the right road for hereditary spastic paraplegia? American Journal of Human Genetics 2002 71 : 1009 1016.
-
(2002)
American Journal of Human Genetics
, vol.71
, pp. 1009-1016
-
-
Crosby, A.H.1
Proukakis, C.2
-
18
-
-
18644365196
-
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
-
Reid E., Kloos M., Ashley-Koch A., et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). American Journal of Human Genetics 2002 71 : 1189 1194.
-
(2002)
American Journal of Human Genetics
, vol.71
, pp. 1189-1194
-
-
Reid, E.1
Kloos, M.2
Ashley-Koch, A.3
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