-
1
-
-
0027759812
-
Hereditary spastic paraplegias
-
Harding AE. Hereditary spastic paraplegias. Semin Neurol 1993;13:333-336.
-
(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;40:81-86.
-
(2003)
J Med Genet
, vol.40
, pp. 81-86
-
-
Reid, E.1
-
3
-
-
0041522770
-
The hereditary spastic paraplegias: Nine genes and counting
-
Fink JK. The hereditary spastic paraplegias: nine genes and counting. Arch Neurol 2003;60:1045-1049.
-
(2003)
Arch Neurol
, vol.60
, pp. 1045-1049
-
-
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, et al. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 2003;73:1147-1156.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1147-1156
-
-
Simpson, M.A.1
Cross, H.2
Proukakis, C.3
-
5
-
-
0037168804
-
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14
-
Hodgkinson CA, Bohlega S, Abu-Amero SN, et al. A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 2002;59:1905-1909.
-
(2002)
Neurology
, vol.59
, pp. 1905-1909
-
-
Hodgkinson, C.A.1
Bohlega, S.2
Abu-Amero, S.N.3
-
6
-
-
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;71:1009-1016.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1009-1016
-
-
Crosby, A.H.1
Proukakis, C.2
-
7
-
-
0142122897
-
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
-
Rainier S, Chai JH, Tokarz D, et al. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 2003;73:967-971.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 967-971
-
-
Rainier, S.1
Chai, J.H.2
Tokarz, D.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. Am J Hum Genet 1999;64: 586-593.
-
(1999)
Am J Hum Genet
, vol.64
, 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. Eur J Hum Genet 2000;8:777-782.
-
(2000)
Eur J Hum Genet
, 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 abnormalities: A new syndrome?
-
Slavotinek AM, Pike M, Mills K, Hurst JA. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? Am J Med Genet 1996;62: 42-47.
-
(1996)
Am J Med Genet
, vol.62
, pp. 42-47
-
-
Slavotinek, A.M.1
Pike, M.2
Mills, K.3
Hurst, J.A.4
-
11
-
-
0042768145
-
Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy
-
Lo Nigro C, Cusano R, Gigli GL, et al. Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. Am J Med Genet 2003;117A:116-121.
-
(2003)
Am J Med Genet
, vol.117 A
, pp. 116-121
-
-
Lo Nigro, C.1
Cusano, R.2
Gigli, G.L.3
-
13
-
-
0033782943
-
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis
-
Lindsey JC, Lusher ME, McDermott CJ, et al. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. J Med Genet 2000;37:759-765.
-
(2000)
J Med Genet
, vol.37
, pp. 759-765
-
-
Lindsey, J.C.1
Lusher, M.E.2
McDermott, C.J.3
-
14
-
-
0032231934
-
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
-
De Michele G, De Fusco M, Cavalcanti F, et al. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. AmJ Hum Genet 1998;63:135-139.
-
(1998)
AmJ Hum Genet
, vol.63
, pp. 135-139
-
-
De Michele, G.1
De Fusco, M.2
Cavalcanti, F.3
-
15
-
-
0031960716
-
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p
-
Heinzlef O, Paternotte C, Mahieux F, et al. Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p. J Med Genet 1998;35:89-93.
-
(1998)
J Med Genet
, vol.35
, pp. 89-93
-
-
Heinzlef, O.1
Paternotte, C.2
Mahieux, F.3
-
16
-
-
0032190094
-
Expression of the mitotic motor protein Eg5 in postmitotic neurons: Implications for neuronal development
-
Ferhat L, Cook C, Chauviere M, et al. Expression of the mitotic motor protein Eg5 in postmitotic neurons: implications for neuronal development. J Neurosci 1998;18:7822-7835.
-
(1998)
J Neurosci
, vol.18
, pp. 7822-7835
-
-
Ferhat, L.1
Cook, C.2
Chauviere, M.3
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