-
1
-
-
1842684254
-
Genetikk ved parkinsons sykdom
-
Toft M, Aasly J. Genetikk ved Parkinsons sykdom. Tidsskr Nor Lægeforen 2004; 124: 922-4.
-
(2004)
Tidsskr Nor Lægeforen
, vol.124
, pp. 922-924
-
-
Toft, M.1
Aasly, J.2
-
2
-
-
4644302959
-
Genetikk ved bevegelsesforstyrrelser - Dystoni, tremor og chorea
-
Dietrichs E, Taliaksen CME. Genetikk ved bevegelsesforstyrrelser - dystoni, tremor og chorea. Tidsskr Nor Lasgeforen 2004; 124: 2236-7.
-
(2004)
Tidsskr Nor Lasgeforen
, vol.124
, pp. 2236-2237
-
-
Dietrichs, E.1
Taliaksen, C.M.E.2
-
4
-
-
0034895430
-
Recent advances in hereditary spastic paraplegia
-
Tallaksen CM, Dürr A, Brice A. Recent advances in hereditary spastic paraplegia. Curr Opin Neurol 2001; 14: 457-63.
-
(2001)
Curr Opin Neurol
, vol.14
, pp. 457-463
-
-
Tallaksen, C.M.1
Dürr, A.2
Brice, A.3
-
6
-
-
0016173785
-
Hereditary spastic paraplegia in Western Norway
-
Skre H. Hereditary spastic paraplegia in Western Norway. Clin Genet 1974; 6: 165-83.
-
(1974)
Clin Genet
, vol.6
, pp. 165-183
-
-
Skre, H.1
-
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
-
-
0041522717
-
Subtle cognitive impairment but no dementia in patients with spastin mutations
-
Tallaksen CME, Guichart-Gomez E, Verpillat P et al. Subtle cognitive impairment but no dementia in patients with spastin mutations. Arch Neurol 2003; 60: 1113-8.
-
(2003)
Arch Neurol
, vol.60
, pp. 1113-1118
-
-
Tallaksen, C.M.E.1
Guichart-Gomez, E.2
Verpillat, P.3
-
10
-
-
0042205087
-
Motor system abnormalities in hereditary spastic paraparesis type SPG4 (SPG4) depend on the type of mutation in the spastin gene
-
Bönsch D, Schwindt A, Navratil P et al. Motor system abnormalities in hereditary spastic paraparesis type SPG4 (SPG4) depend on the type of mutation in the spastin gene. J Neurol Neurosurg 2003; 74: 1109-12.
-
(2003)
J Neurol Neurosurg
, vol.74
, pp. 1109-1112
-
-
Bönsch, D.1
Schwindt, A.2
Navratil, P.3
-
11
-
-
10044286171
-
Atlastin mutations are frequent in young onset autosomal dominant spastic paraplegia
-
akseptert for publisering
-
Dürr A, Camuzat A, Tallaksen CME et al. Atlastin mutations are frequent in young onset autosomal dominant spastic paraplegia. Arch Neurol 2004, akseptert for publisering.
-
(2004)
Arch Neurol
-
-
Dürr, A.1
Camuzat, A.2
Tallaksen, C.M.E.3
-
12
-
-
0343384355
-
ARSACS, a spastic ataxia common in northwestern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
-
Engert JC, Bérubé P, Mercier J et al. ARSACS, a spastic ataxia common in northwestern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000; 24: 120-5.
-
(2000)
Nat Genet
, vol.24
, pp. 120-125
-
-
Engert, J.C.1
Bérubé, P.2
Mercier, J.3
-
14
-
-
0036725082
-
The spinocerebellar ataxias: Order emerges from chaos
-
Margolis RL. The spinocerebellar ataxias: order emerges from chaos. Curr Neurol Neurosci Rep 2002; 2: 447-56.
-
(2002)
Curr Neurol Neurosci Rep
, vol.2
, pp. 447-456
-
-
Margolis, R.L.1
-
15
-
-
0016251756
-
Spino-cerebellar ataxia in Western Norway
-
Skre H. Spino-cerebellar ataxia in Western Norway. Clin Genet 1974; 6: 265-88.
-
(1974)
Clin Genet
, vol.6
, pp. 265-288
-
-
Skre, H.1
-
16
-
-
0036652616
-
Spinocerebellar degenerations: An update
-
Perlman SL. Spinocerebellar degenerations: an update. Curr Neuro Neurosci Rep 2002; 2: 331-41.
-
(2002)
Curr Neuro Neurosci Rep
, vol.2
, pp. 331-341
-
-
Perlman, S.L.1
-
17
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich ataxia
-
Dürr A, Cossee M, Agid Y et al. Clinical and genetic abnormalities in patients with Friedreich ataxia. N Engl J Med 1996; 335: 1169-75.
-
(1996)
N Engl J Med
, vol.335
, pp. 1169-1175
-
-
Dürr, A.1
Cossee, M.2
Agid, Y.3
-
18
-
-
0037082875
-
Friedreich ataxia with minimal GAA expansion presenting as an adult spastic ataxia
-
Berciano J, Mateo I, De Pablos C et al. Friedreich ataxia with minimal GAA expansion presenting as an adult spastic ataxia. J Neurol Sci 2002; 194: 75-82.
-
(2002)
J Neurol Sci
, vol.194
, pp. 75-82
-
-
Berciano, J.1
Mateo, I.2
De Pablos, C.3
-
19
-
-
0344875066
-
Cerebellar ataxia with oculootor ataxia type 1: Clinical and genetic studies
-
Le Ber I, Moreira MC, Rivaux-Péchoux S et al. Cerebellar ataxia with oculootor ataxia type 1: clinical and genetic studies. Brain 2003; 126: 2761-72.
-
(2003)
Brain
, vol.126
, pp. 2761-2772
-
-
Le Ber, I.1
Moreira, M.C.2
Rivaux-Péchoux, S.3
-
20
-
-
0038187688
-
Idebedone treatment in Friedreich's ataxia
-
Buyse G, Mertens L, Di Salvo G et al. Idebedone treatment in Friedreich's ataxia. Neurology 2003; 60: 1679-81.
-
(2003)
Neurology
, vol.60
, pp. 1679-1681
-
-
Buyse, G.1
Mertens, L.2
Di Salvo, G.3
|