-
1
-
-
0242270591
-
Advances in the hereditary spastic paraplegias
-
Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol. 2003;184(suppl 1):S106-S110.
-
(2003)
Exp Neurol
, vol.184
, Issue.SUPPL. 1
-
-
Fink, J.K.1
-
2
-
-
19944433320
-
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
-
Abel A, Fonknechten N, Hofer A, et al. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics. 2004;5:239-243.
-
(2004)
Neurogenetics
, vol.5
, pp. 239-243
-
-
Abel, A.1
Fonknechten, N.2
Hofer, A.3
-
3
-
-
33644895434
-
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy
-
Rainier S, Sher C, Reish O, Thomas D, Fink JK. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol. 2006;63:445-447.
-
(2006)
Arch Neurol
, vol.63
, pp. 445-447
-
-
Rainier, S.1
Sher, C.2
Reish, O.3
Thomas, D.4
Fink, J.K.5
-
4
-
-
0035184654
-
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
-
Zhao X, Alvarado D, Rainier S, et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet. 2001;29:326-331.
-
(2001)
Nat Genet
, vol.29
, pp. 326-331
-
-
Zhao, X.1
Alvarado, D.2
Rainier, S.3
-
5
-
-
10044286171
-
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
-
Dürr A, Camuzat A, Colin E, et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol. 2004;61:1867-1872.
-
(2004)
Arch Neurol
, vol.61
, pp. 1867-1872
-
-
Dürr, A.1
Camuzat, A.2
Colin, E.3
-
6
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet. 2001;109:121-124.
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
den Dunnen, J.T.1
Antonarakis, S.E.2
-
7
-
-
0242523160
-
SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia
-
Wilkinson PA, Hart PE, Patel H, Warner TT, Crosby AH. SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. J Neurol Sci. 2003;216:43-45.
-
(2003)
J Neurol Sci
, vol.216
, pp. 43-45
-
-
Wilkinson, P.A.1
Hart, P.E.2
Patel, H.3
Warner, T.T.4
Crosby, A.H.5
-
8
-
-
1542783703
-
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
-
Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat. 2004;23:98.
-
(2004)
Hum Mutat
, vol.23
, pp. 98
-
-
Sauter, S.M.1
Engel, W.2
Neumann, L.M.3
Kunze, J.4
Neesen, J.5
-
9
-
-
23944446679
-
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
-
Scarano V, Mancini P, Criscuolo C, et al. The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol. 2005;252:901-903.
-
(2005)
J Neurol
, vol.252
, pp. 901-903
-
-
Scarano, V.1
Mancini, P.2
Criscuolo, C.3
-
10
-
-
0037168428
-
SPG3A: An additional family carrying a new atlastin mutation
-
Tessa A, Casali C, Damiano M, et al. SPG3A: an additional family carrying a new atlastin mutation. Neurology. 2002;59:2002-2005.
-
(2002)
Neurology
, vol.59
, pp. 2002-2005
-
-
Tessa, A.1
Casali, C.2
Damiano, M.3
-
11
-
-
33645806761
-
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
-
Namekawa M, Ribai P, Nelson I, et al. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology. 2006;66:112-114.
-
(2006)
Neurology
, vol.66
, pp. 112-114
-
-
Namekawa, M.1
Ribai, P.2
Nelson, I.3
-
12
-
-
2942564556
-
Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene
-
D'Amico A, Tessa A, Sabino A, Bertini E, Santorelli FM, Servidei S. Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology. 2004;62:2138-2139.
-
(2004)
Neurology
, vol.62
, pp. 2138-2139
-
-
D'Amico, A.1
Tessa, A.2
Sabino, A.3
Bertini, E.4
Santorelli, F.M.5
Servidei, S.6
-
13
-
-
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, et al. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics. 2006;7:131-132.
-
(2006)
Neurogenetics
, vol.7
, pp. 131-132
-
-
Namekawa, M.1
Nelson, I.2
Ribai, P.3
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