-
2
-
-
0030009709
-
Variable phenotype of rapid-onset dystonia-parkinsonism
-
Brashear A, Farlow MR, Butler IJ, Kasarskis EJ, Dobyns WB. Variable phenotype of rapid-onset dystonia-parkinsonism. Mov Disord 1996;11(suppl 2):151-156.
-
(1996)
Mov Disord
, vol.11
, Issue.2 SUPPL.
, pp. 151-156
-
-
Brashear, A.1
Farlow, M.R.2
Butler, I.J.3
Kasarskis, E.J.4
Dobyns, W.B.5
-
3
-
-
0021966924
-
Validity and reliability of a rating scale for the primary torsion dystonias
-
Burke RE, Fahn S, Marsden CD, Bressman SB, Moskowitz C, Friedman J. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 1985;35:73-77.
-
(1985)
Neurology
, vol.35
, pp. 73-77
-
-
Burke, R.E.1
Fahn, S.2
Marsden, C.D.3
Bressman, S.B.4
Moskowitz, C.5
Friedman, J.6
-
4
-
-
0002643609
-
Assessment of Parkinson's disease
-
Munsat TL, ed. Boston: Butter-worths
-
Lang AE, Fahn S. Assessment of Parkinson's disease. In: Munsat TL, ed. Quantification of neurologic deficit. Boston: Butter-worths, 1989:285-309.
-
(1989)
Quantification of Neurologic Deficit
, pp. 285-309
-
-
Lang, A.E.1
Fahn, S.2
-
5
-
-
0022527309
-
Lebert's disease and dystonia: A mitochondrial disease
-
Novotny EJ, Singh G, Wallace DC, et al. Lebert's disease and dystonia: a mitochondrial disease. Neurology 1986;36:1053-1060.
-
(1986)
Neurology
, vol.36
, pp. 1053-1060
-
-
Novotny, E.J.1
Singh, G.2
Wallace, D.C.3
-
6
-
-
0029122341
-
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
-
Thyagarajan D, Shanske S, Vazquez-Memije M, DeVivo D, DiMauro S. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 1995;38:468-472.
-
(1995)
Ann Neurol
, vol.38
, pp. 468-472
-
-
Thyagarajan, D.1
Shanske, S.2
Vazquez-Memije, M.3
DeVivo, D.4
DiMauro, S.5
-
7
-
-
0029967483
-
Genetic and biochemical impairment of mitochondrial Complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
-
DeVries DD, Went LN, Bruyn GW, et al. Genetic and biochemical impairment of mitochondrial Complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996;58:703-711.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 703-711
-
-
DeVries, D.D.1
Went, L.N.2
Bruyn, G.W.3
-
8
-
-
0027166021
-
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
-
DeVries D, van Engelen B, Gabreëls F, Ruitenbeek W, van Oost B. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 1993;34:410-412.
-
(1993)
Ann Neurol
, vol.34
, pp. 410-412
-
-
DeVries, D.1
Van Engelen, B.2
Gabreëls, F.3
Ruitenbeek, W.4
Van Oost, B.5
-
9
-
-
0027451284
-
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
-
Santorelli F, Shanske S, Macaya A, DeVivo D, DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993;34:827-834.
-
(1993)
Ann Neurol
, vol.34
, pp. 827-834
-
-
Santorelli, F.1
Shanske, S.2
Macaya, A.3
DeVivo, D.4
DiMauro, S.5
-
10
-
-
0343643383
-
Widespread tissue distribution and high percentage of an A to G transition at nt 3243 of mitochondrial tRNA Leu (UUR) gene associated with clinico-pathologically defined Leigh's disease - A final common outcome for severe defects of the OXPHOS genes
-
Koga Y, Matsuishi T, Yoshino Y, Kato H. Widespread tissue distribution and high percentage of an A to G transition at nt 3243 of mitochondrial tRNA Leu (UUR) gene associated with clinico-pathologically defined Leigh's disease - a final common outcome for severe defects of the OXPHOS genes [abstract]. Am J Hum Genetics 1995;57(suppl):1963.
-
(1995)
Am J Hum Genetics
, vol.57
, Issue.SUPPL.
, pp. 1963
-
-
Koga, Y.1
Matsuishi, T.2
Yoshino, Y.3
Kato, H.4
-
11
-
-
0029977170
-
Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease
-
Howel N, Kubacka I, Smith R, Frerman F, Parks JK, Parker WD. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. Neurology 1996;46:219-222.
-
(1996)
Neurology
, vol.46
, pp. 219-222
-
-
Howel, N.1
Kubacka, I.2
Smith, R.3
Frerman, F.4
Parks, J.K.5
Parker, W.D.6
-
13
-
-
0025281572
-
X-linked recessive torsion dystonia in the Philippines
-
Kupke KG, Lee LV, Viterbo GH, Arancillo J, Donlon T, Muller U. X-linked recessive torsion dystonia in the Philippines. Am J Med Genet 1990;36:237-242.
-
(1990)
Am J Med Genet
, vol.36
, pp. 237-242
-
-
Kupke, K.G.1
Lee, L.V.2
Viterbo, G.H.3
Arancillo, J.4
Donlon, T.5
Muller, U.6
|