-
1
-
-
0027771905
-
Rapid-onset dystonia-parkinsonism
-
Dobyns W, Ozelius L, Kramer PL, et al. Rapid-onset dystonia-parkinsonism. Neurology 1993;43:2596-2602
-
(1993)
Neurology
, vol.43
, pp. 2596-2602
-
-
Dobyns, W.1
Ozelius, L.2
Kramer, P.L.3
-
2
-
-
0030950937
-
Rapid-onset dystonia-parkinsonism: A report of a second family
-
Brashear A, de Leon D, Bressman SB, et al. Rapid-onset dystonia-parkinsonism: a report of a second family. Neurology 1997;48:1066-1069
-
(1997)
Neurology
, vol.48
, pp. 1066-1069
-
-
Brashear, A.1
De Leon, D.2
Bressman, S.B.3
-
3
-
-
0027354029
-
Dopa-responsive dystonia: Delineation of the clinical syndrome and clues to pathogenesis
-
Nygaard T. Dopa-responsive dystonia: delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 1993;60: 577-585
-
(1993)
Adv Neurol
, vol.60
, pp. 577-585
-
-
Nygaard, T.1
-
4
-
-
0023675161
-
Hereditary progressive dystonia with marked diurnal fluctuation - Consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings
-
Segawa M, Nomura Y, Tanaka S. Hereditary progressive dystonia with marked diurnal fluctuation - consideration on its pathophysiology based on the characteristics of clinical and polysomnographical findings. Adv Neurol 1988;50:367-375
-
(1988)
Adv Neurol
, vol.50
, pp. 367-375
-
-
Segawa, M.1
Nomura, Y.2
Tanaka, S.3
-
5
-
-
0021298245
-
Juvenile parkinsonism - Some clinical, pharmacological, and neuropathological aspects
-
Yokochi M, Narabayashi H, Iizuka R, Nagatsu T. Juvenile parkinsonism - some clinical, pharmacological, and neuropathological aspects. Adv Neurol 1984;40:407-413
-
(1984)
Adv Neurol
, vol.40
, pp. 407-413
-
-
Yokochi, M.1
Narabayashi, H.2
Iizuka, R.3
Nagatsu, T.4
-
6
-
-
0027396368
-
Dominantly inherited, early-onset parkinsonism: Neuropathology of a new form
-
Dwork AJ, Balmaceda C, Fazzini EA, et al. Dominantly inherited, early-onset parkinsonism: neuropathology of a new form. Neurology 1993;43:69-74
-
(1993)
Neurology
, vol.43
, pp. 69-74
-
-
Dwork, A.J.1
Balmaceda, C.2
Fazzini, E.A.3
-
8
-
-
0028151448
-
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
-
Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994;8:236-242
-
(1994)
Nat Genet
, vol.8
, pp. 236-242
-
-
Ichinose, H.1
Ohye, T.2
Takahashi, E.3
-
9
-
-
0030035985
-
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
-
Ludecke B, Knappskog PM, Clayton PT, et al. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 1996;5:1023-1028
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1023-1028
-
-
Ludecke, B.1
Knappskog, P.M.2
Clayton, P.T.3
-
10
-
-
0031721663
-
Biochemical hallmarks of tyrosine hydroxylase deficiency
-
Brautigan C, Wevers RA, Jansen RJ, et al. Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem 1998;44: 1897-1904
-
(1998)
Clin Chem
, vol.44
, pp. 1897-1904
-
-
Brautigan, C.1
Wevers, R.A.2
Jansen, R.J.3
-
11
-
-
0026629916
-
Delineation of the dystonia-parkinsonism syndrome locus in Xq13
-
Graeber MB, Kupke KG, Muller U. Delineation of the dystonia-parkinsonism syndrome locus in Xq13. Proc Natl Acad Sci USA 1992;89:8245-8248
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 8245-8248
-
-
Graeber, M.B.1
Kupke, K.G.2
Muller, U.3
-
12
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608
-
(1998)
Nature
, vol.392
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
-
13
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
Ozelius L, Hewett J, Page C, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48
-
(1997)
Nat Genet
, vol.17
, pp. 40-48
-
-
Ozelius, L.1
Hewett, J.2
Page, C.3
-
14
-
-
0030868892
-
Idiopathic torsion dystonia linked to chromosome 8 in two families of German Mennonite origin
-
Almasy L, Bressman S, Kramer P, et al. Idiopathic torsion dystonia linked to chromosome 8 in two families of German Mennonite origin. Ann Neurol 1997;42:670-673
-
(1997)
Ann Neurol
, vol.42
, pp. 670-673
-
-
Almasy, L.1
Bressman, S.2
Kramer, P.3
-
15
-
-
0030744876
-
Mutation in the α-synuclein gene identified in families with Parkinson's disease
-
Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 1997;276:2045-2047
-
(1997)
Science
, vol.276
, pp. 2045-2047
-
-
Polymeropoulos, M.H.1
Lavedan, C.2
Leroy, E.3
-
16
-
-
0031990490
-
Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease
-
Kruger R, Kuhn W, Muller T, et al. Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease. Nat Genet 1998;18:106-108
-
(1998)
Nat Genet
, vol.18
, pp. 106-108
-
-
Kruger, R.1
Kuhn, W.2
Muller, T.3
-
17
-
-
0032190090
-
The ubiquitin pathway in Parkinson's disease
-
Leroy E, Boyer R, Auburger G, et al. The ubiquitin pathway in Parkinson's disease. Nature 1998;395:451-452
-
(1998)
Nature
, vol.395
, pp. 451-452
-
-
Leroy, E.1
Boyer, R.2
Auburger, G.3
-
18
-
-
0031951197
-
A susceptibility locus for Parkinson's disease maps to chromosome 2p13
-
Gasser T, Muller-Myhsok B, Wszolek ZK, et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 1998;18:262-265
-
(1998)
Nat Genet
, vol.18
, pp. 262-265
-
-
Gasser, T.1
Muller-Myhsok, B.2
Wszolek, Z.K.3
-
19
-
-
0021829406
-
Permanent human parkinsonism due to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP): Seven cases
-
Ballard PA, Tetrud JW, Langston W. Permanent human parkinsonism due to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP): seven cases. Neurology 1985;35:949-956
-
(1985)
Neurology
, vol.35
, pp. 949-956
-
-
Ballard, P.A.1
Tetrud, J.W.2
Langston, W.3
-
20
-
-
0030009709
-
Variable phenotype of rapid-onset dystonia-parkinsonism
-
Brashear A, Farlow MR, Butler IJ, et al. Variable phenotype of rapid-onset dystonia-parkinsonism. Mov Disord 1996;11: 151-156
-
(1996)
Mov Disord
, vol.11
, pp. 151-156
-
-
Brashear, A.1
Farlow, M.R.2
Butler, I.J.3
-
21
-
-
0021966924
-
Validity and reliability of a rating scale for the primary torsion dystonias
-
Burke RE, Fahn S, Marsden CD, et al. 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
-
22
-
-
0002643609
-
Assessment of Parkinson's disease
-
Munsat TL, ed. Boston: Butterworths
-
Lang AE, Fahn S. Assessment of Parkinson's disease. In: Munsat TL, ed. Quantification of neurologic deficit. Boston: Butterworths, 1989:285-309
-
(1989)
Quantification of Neurologic Deficit
, pp. 285-309
-
-
Lang, A.E.1
Fahn, S.2
-
23
-
-
0032929472
-
PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP)
-
Brashear A, Mulholland GK, Zheng QH, et al. PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP). Mov Disord 1999;14:132-137
-
(1999)
Mov Disord
, vol.14
, pp. 132-137
-
-
Brashear, A.1
Mulholland, G.K.2
Zheng, Q.H.3
-
24
-
-
0031780914
-
Cerebrospinal fluid homovanillic acid levels in rapid-onset dysronia-parkinsonism
-
Brashear A, Butler IJ, Hyland K, et al. Cerebrospinal fluid homovanillic acid levels in rapid-onset dysronia-parkinsonism. Ann Neurol 1998;43:521-526
-
(1998)
Ann Neurol
, vol.43
, pp. 521-526
-
-
Brashear, A.1
Butler, I.J.2
Hyland, K.3
-
25
-
-
0018729682
-
Precise localization of human beta-globin gene complex on chromosome 11
-
Gusella J, Varsanyi-Breiner A, Kao F, et al. Precise localization of human beta-globin gene complex on chromosome 11. Proc Natl Acad Sci USA 1979;76:5239-5242
-
(1979)
Proc Natl Acad Sci USA
, vol.76
, pp. 5239-5242
-
-
Gusella, J.1
Varsanyi-Breiner, A.2
Kao, F.3
-
26
-
-
0027714732
-
A rapid and non-radioactive PCR based assay for the detection of allelic loss in human gliomas
-
von Deimling A, Bender B, Louis DN, Wiestler OD. A rapid and non-radioactive PCR based assay for the detection of allelic loss in human gliomas. Neuropathol Appl Neurobiol 1993;19: 524-529
-
(1993)
Neuropathol Appl Neurobiol
, vol.19
, pp. 524-529
-
-
Von Deimling, A.1
Bender, B.2
Louis, D.N.3
Wiestler, O.D.4
-
28
-
-
0028790963
-
The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance
-
O'Connell J, Weeks D. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 1995;11:402-408
-
(1995)
Nat Genet
, vol.11
, pp. 402-408
-
-
O'Connell, J.1
Weeks, D.2
-
29
-
-
0031602684
-
Clinical-genetic spectrum of primary dystonia
-
Bressman S, de Leon D, Raymond D, et al. Clinical-genetic spectrum of primary dystonia. Adv Neurol 1998;78:79-92
-
(1998)
Adv Neurol
, vol.78
, pp. 79-92
-
-
Bressman, S.1
De Leon, D.2
Raymond, D.3
-
30
-
-
0031878303
-
Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset
-
Gasser T, Windgassen K, Bereznai B, et al. Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. Ann Neurol 1998;44:126-128
-
(1998)
Ann Neurol
, vol.44
, pp. 126-128
-
-
Gasser, T.1
Windgassen, K.2
Bereznai, B.3
-
31
-
-
0042871138
-
Neurochemical alterations in Parkinson's disease
-
Wood JH, ed. New York: Plenum Press
-
Chase TN. Neurochemical alterations in Parkinson's disease. In: Wood JH, ed. Neurobiology of cerebrospinal fluid. New York: Plenum Press, 1980:207-218
-
(1980)
Neurobiology of Cerebrospinal Fluid
, pp. 207-218
-
-
Chase, T.N.1
-
32
-
-
0029058178
-
A family with hereditary juvenile dystonia-parkinsonism
-
Ishikawa A, Miyatake T. A family with hereditary juvenile dystonia-parkinsonism. Mov Disord 1995;10:482-488
-
(1995)
Mov Disord
, vol.10
, pp. 482-488
-
-
Ishikawa, A.1
Miyatake, T.2
-
33
-
-
0030463523
-
Functional and pathophysiological models of the basal ganglia
-
Wichmann T, DeLong MR. Functional and pathophysiological models of the basal ganglia. Curr Opin Neurobiol 1996;6: 751-758
-
(1996)
Curr Opin Neurobiol
, vol.6
, pp. 751-758
-
-
Wichmann, T.1
DeLong, M.R.2
-
35
-
-
0343683357
-
Differential expression of kinate receptors in the basal ganglia of the developing and adult rat brain
-
Wuellner U, Standaert D, Testa C, et al. Differential expression of kinate receptors in the basal ganglia of the developing and adult rat brain. Brain Res 1997;768:215-223
-
(1997)
Brain Res
, vol.768
, pp. 215-223
-
-
Wuellner, U.1
Standaert, D.2
Testa, C.3
-
36
-
-
0031039834
-
Spatial distribution of kainate receptor subunit mRNA in the mouse basal ganglia and ventral mesencephalon
-
Bischoff S, Barhanin J, Bettler B, et al. Spatial distribution of kainate receptor subunit mRNA in the mouse basal ganglia and ventral mesencephalon. J Comp Neurol 1997;379:541-562
-
(1997)
J Comp Neurol
, vol.379
, pp. 541-562
-
-
Bischoff, S.1
Barhanin, J.2
Bettler, B.3
-
37
-
-
0344427723
-
Ontogeny of dopaminergic and cholinergic systems in the basal ganglia
-
Angelini L, et al, eds. New York: Elsevier Science
-
Graybiel AM, Newman-Gage H. Ontogeny of dopaminergic and cholinergic systems in the basal ganglia. In: Angelini L, et al, eds. Extrapyramidal disorders in childhood. New York: Elsevier Science, 1987:1-10
-
(1987)
Extrapyramidal Disorders in Childhood
, pp. 1-10
-
-
Graybiel, A.M.1
Newman-Gage, H.2
-
39
-
-
0027437033
-
Positron emission tomographic studies of dopa-responsive dystonia and early-onset idiopathic parkinsonism
-
Snow BJ, Nygaard TG, Takahashi H, Calne DB. Positron emission tomographic studies of dopa-responsive dystonia and early-onset idiopathic parkinsonism. Ann Neurol 1993;34:733-738
-
(1993)
Ann Neurol
, vol.34
, pp. 733-738
-
-
Snow, B.J.1
Nygaard, T.G.2
Takahashi, H.3
Calne, D.B.4
-
40
-
-
0027182918
-
Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women
-
Waters CH, Takahashi H, Wilhelmsen KC, et al. Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women. Neurology 1993;43:1555-1558
-
(1993)
Neurology
, vol.43
, pp. 1555-1558
-
-
Waters, C.H.1
Takahashi, H.2
Wilhelmsen, K.C.3
-
41
-
-
0342294642
-
Rapid-onset dystonia-parkinsonism: A new kindred
-
Toronto, Ontario, Canada, April 17-24
-
Pittock SJ, Webb DW, Hardiman O. Rapid-onset dystonia-parkinsonism: a new kindred. Presented at the Annual Meeting of the American Academy of Neurology, Toronto, Ontario, Canada, April 17-24, 1999
-
(1999)
Annual Meeting of the American Academy of Neurology
-
-
Pittock, S.J.1
Webb, D.W.2
Hardiman, O.3
|