-
1
-
-
55549094109
-
Hereditary spastic paraplegia: Clinical features and pathogenetic mechanisms
-
19007737 10.1016/S1474-4422(08)70258-8 1:CAS:528:DC%2BD1cXhsFCrsLvN
-
Salinas S, Proukakis C, Crosby A, Warner TT (2008) Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 7:1127-1138
-
(2008)
Lancet Neurol
, vol.7
, pp. 1127-1138
-
-
Salinas, S.1
Proukakis, C.2
Crosby, A.3
Warner, T.T.4
-
2
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
6133167 10.1016/S0140-6736(83)92879-9 1:STN:280:DyaL3s7ptFSlsQ%3D%3D
-
Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1:1151-1155
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.E.1
-
3
-
-
0344664376
-
Hereditary spastic paraparesis: Disrupted intracellular transport associated with spastin mutation
-
14681884 10.1002/ana.10757
-
McDermott CJ, Grierson AJ, Wood JD et al (2003) Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. Ann Neurol 54:748-759
-
(2003)
Ann Neurol
, vol.54
, pp. 748-759
-
-
McDermott, C.J.1
Grierson, A.J.2
Wood, J.D.3
-
4
-
-
84855199342
-
The AAA ATPase spastin links microtubule severing to membrane modelling
-
21888932 10.1016/j.bbamcr.2011.08.010 1:CAS:528:DC%2BC38XhvFyhsA%3D%3D
-
Lumb JH, Connell JW, Allison R, Reid E (2012) The AAA ATPase spastin links microtubule severing to membrane modelling. Biochim Biophys Acta 1823:192-197
-
(2012)
Biochim Biophys Acta
, vol.1823
, pp. 192-197
-
-
Lumb, J.H.1
Connell, J.W.2
Allison, R.3
Reid, E.4
-
5
-
-
79959305691
-
Mitochondria: The next (Neurode) generation
-
21689593 10.1016/j.neuron.2011.06.003 1:CAS:528:DC%2BC3MXnslOmur0%3D
-
Schon EA, Przedborski S (2011) Mitochondria: the next (Neurode) generation. Neuron 70:1033-1053
-
(2011)
Neuron
, vol.70
, pp. 1033-1053
-
-
Schon, E.A.1
Przedborski, S.2
-
6
-
-
77950244975
-
Multi-system neurological disease is common in patients with OPA1 mutations
-
20157015 10.1093/brain/awq007 1:STN:280:DC%2BC3c7pslKitg%3D%3D
-
Yu-Wai-Man P, Griffiths PG, Gorman GS et al (2010) Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133:771-786
-
(2010)
Brain
, vol.133
, pp. 771-786
-
-
Yu-Wai-Man, P.1
Griffiths, P.G.2
Gorman, G.S.3
-
7
-
-
82255179813
-
Subclinical multisystem neurologic disease in "pure" Opa1 autosomal dominant optic atrophy
-
21917770 10.1212/WNL.0b013e318230a15a 1:STN:280:DC%2BC3Mfmtlaksg%3D%3D
-
Baker MR, Fisher KM, Whittaker RG, Griffiths PG, Yu-Wai-Man P, Chinnery PF (2011) Subclinical multisystem neurologic disease in "pure" Opa1 autosomal dominant optic atrophy. Neurology 77:1309-1312
-
(2011)
Neurology
, vol.77
, pp. 1309-1312
-
-
Baker, M.R.1
Fisher, K.M.2
Whittaker, R.G.3
Griffiths, P.G.4
Yu-Wai-Man, P.5
Chinnery, P.F.6
-
8
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
9635427 10.1016/S0092-8674(00)81203-9 1:CAS:528:DyaK1cXjvFKqsLs%3D
-
Casari G, De Fusco M, Ciarmatori S et al (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
-
9
-
-
2442542546
-
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia
-
14985266 10.1093/brain/awh125
-
Wilkinson PA, Crosby AH, Turner C et al (2004) A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 127:973-980
-
(2004)
Brain
, vol.127
, pp. 973-980
-
-
Wilkinson, P.A.1
Crosby, A.H.2
Turner, C.3
-
10
-
-
84867714045
-
Genotype-phenotype correlations in spastic paraplegia type 7: A study in a large Dutch cohort
-
22964162 10.1093/brain/aws224
-
van Gassen KL, van der Heijden CD, de Bot ST et al (2012) Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain 135:2994-3004
-
(2012)
Brain
, vol.135
, pp. 2994-3004
-
-
Van Gassen, K.L.1
Van Der Heijden, C.D.2
De Bot, S.T.3
-
11
-
-
0041522717
-
Subtle cognitive impairment but no dementia in patients with spastin mutations
-
12925368 10.1001/archneur.60.8.1113
-
Tallaksen CME, Guichart-Gomez E, Verpillat P et al (2003) Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol 60:1113-1118
-
(2003)
Arch Neurol
, vol.60
, pp. 1113-1118
-
-
Tallaksen, C.M.E.1
Guichart-Gomez, E.2
Verpillat, P.3
-
12
-
-
1042299828
-
Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia
-
14872021 10.1212/01.WNL.0000108629.04434.05
-
McMonagle P, Byrne P, Hutchinson M (2004) Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia. Neurology 62:407-410
-
(2004)
Neurology
, vol.62
, pp. 407-410
-
-
McMonagle, P.1
Byrne, P.2
Hutchinson, M.3
-
13
-
-
68249133789
-
Dementia in SPG4 hereditary spastic paraplegia Clinical, genetic, and neuropathologic evidence
-
19652142 10.1212/WNL.0b013e3181b04c6c 1:STN:280:DC%2BD1Mrjt1CktA%3D%3D
-
Murphy S, Gorman G, Beetz C et al (2009) Dementia in SPG4 hereditary spastic paraplegia Clinical, genetic, and neuropathologic evidence. Neurology 73:378-384
-
(2009)
Neurology
, vol.73
, pp. 378-384
-
-
Murphy, S.1
Gorman, G.2
Beetz, C.3
-
14
-
-
18944374033
-
The montreal cognitive assessment, MoCA: A brief screening tool for mild cognitive impairment
-
15817019 10.1111/j.1532-5415.2005.53221.x
-
Nasreddine ZS, Phillips NA, Bedirian V et al (2005) The montreal cognitive assessment, MoCA: a brief screening tool for mild cognitive impairment. J Am Geriatr Soc 53:695-699
-
(2005)
J Am Geriatr Soc
, vol.53
, pp. 695-699
-
-
Nasreddine, Z.S.1
Phillips, N.A.2
Bedirian, V.3
-
15
-
-
0036324737
-
Refining the ten-metre walking test for use with neurologically impaired people
-
10.1016/S0031-9406(05)61264-3
-
Watson M (2002) Refining the ten-metre walking test for use with neurologically impaired people. Physiotherapy 88:386-397
-
(2002)
Physiotherapy
, vol.88
, pp. 386-397
-
-
Watson, M.1
|