-
1
-
-
0026589459
-
Mutant debrisoquine hydroxylation genes in Parkinson's disease
-
Armstrong M, Daly AK, Cholerton S, Bateman DN, Idle JR (1992) Mutant debrisoquine hydroxylation genes in Parkinson's disease. Lancet 339: 1017-1018
-
(1992)
Lancet
, vol.339
, pp. 1017-1018
-
-
Armstrong, M.1
Daly, A.K.2
Cholerton, S.3
Bateman, D.N.4
Idle, J.R.5
-
2
-
-
0030027095
-
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
-
Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkofski F, Kugel H, Heindel W, Seitz R, Benecke R, Witte OW, Voit T (1996) A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 31:90-94
-
(1996)
Genomics
, vol.31
, pp. 90-94
-
-
Auburger, G.1
Ratzlaff, T.2
Lunkes, A.3
Nelles, H.W.4
Leube, B.5
Binkofski, F.6
Kugel, H.7
Heindel, W.8
Seitz, R.9
Benecke, R.10
Witte, O.W.11
Voit, T.12
-
3
-
-
0027930619
-
A study of hereditary essential tremor
-
Bain PG, Findley LJ, Thompson PD, Gresty MA, Rothwell JC, Harding AE, Marsden CD (1994) A study of hereditary essential tremor. Brain 117:805-824
-
(1994)
Brain
, vol.117
, pp. 805-824
-
-
Bain, P.G.1
Findley, L.J.2
Thompson, P.D.3
Gresty, M.A.4
Rothwell, J.C.5
Harding, A.E.6
Marsden, C.D.7
-
4
-
-
0029559666
-
Familial Parkinson's disease: A clinical genetic analysis
-
Bonifati V, Fabrizio E, Vanacore N, De Mari M, Meco G (1995) Familial Parkinson's disease: a clinical genetic analysis. Can J Neurol Sci 22:272-279
-
(1995)
Can J Neurol Sci
, vol.22
, pp. 272-279
-
-
Bonifati, V.1
Fabrizio, E.2
Vanacore, N.3
De Mari, M.4
Meco, G.5
-
5
-
-
0027988344
-
Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation
-
Bressman SB, Leon D de, Kramer PL, Ozelius LJ, Brin MF, Greene PE, Fahn S, Breakefield XO, Risch NJ (1994) Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 36:771-777
-
(1994)
Ann Neurol
, vol.36
, pp. 771-777
-
-
Bressman, S.B.1
De Leon, D.2
Kramer, P.L.3
Ozelius, L.J.4
Brin, M.F.5
Greene, P.E.6
Fahn, S.7
Breakefield, X.O.8
Risch, N.J.9
-
6
-
-
0028097164
-
Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia
-
Bressman SB, Hunt AL, Heiman GA, Brin MF, Burke RE, Fahn S, Trugman JM, Leon D de, Kramer PL, Wilhelmsen KC, et al (1994) Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia. Mov Disord 9:626-632
-
(1994)
Mov Disord
, vol.9
, pp. 626-632
-
-
Bressman, S.B.1
Hunt, A.L.2
Heiman, G.A.3
Brin, M.F.4
Burke, R.E.5
Fahn, S.6
Trugman, J.M.7
De Leon, D.8
Kramer, P.L.9
Wilhelmsen, K.C.10
-
7
-
-
0028999064
-
Hereditary late-onset chorea without significant dementia: Genetic evidence for substantial phenotypic variation in Huntington's disease
-
Britton JW, Uitti RJ, Ahlskog JE, Robinson RG, Kremer B, Hayden MR (1995) Hereditary late-onset chorea without significant dementia: genetic evidence for substantial phenotypic variation in Huntington's disease. Neurology 45:443-447
-
(1995)
Neurology
, vol.45
, pp. 443-447
-
-
Britton, J.W.1
Uitti, R.J.2
Ahlskog, J.E.3
Robinson, R.G.4
Kremer, B.5
Hayden, M.R.6
-
8
-
-
0029664992
-
Huntington and DRPLA proteins selectively interact with the enzyme GAPDH
-
Burke JR, Enghild JJ, Martin ME, Jou YS, Myers RM, Roses AD, Vance JM, Strittmatter WJ (1996) Huntington and DRPLA proteins selectively interact with the enzyme GAPDH. Nat Med 2: 347-350
-
(1996)
Nat Med
, vol.2
, pp. 347-350
-
-
Burke, J.R.1
Enghild, J.J.2
Martin, M.E.3
Jou, Y.S.4
Myers, R.M.5
Roses, A.D.6
Vance, J.M.7
Strittmatter, W.J.8
-
9
-
-
0026793873
-
Parkinson's disease in twins studied with 18F-dopa and positron emission tomography
-
Burn DJ, Mark MH, Playford ED, Maraganore DM, Zimmerman TR Jr, Duvoisin RC, Harding AE, Marsden CD, Brooks DJ (1992) Parkinson's disease in twins studied with 18F-dopa and positron emission tomography. Neurology 42: 1894-1900
-
(1992)
Neurology
, vol.42
, pp. 1894-1900
-
-
Burn, D.J.1
Mark, M.H.2
Playford, E.D.3
Maraganore, D.M.4
Zimmerman Jr., T.R.5
Duvoisin, R.C.6
Harding, A.E.7
Marsden, C.D.8
Brooks, D.J.9
-
10
-
-
0027185835
-
Linkage analysis with chromosome 9 markers in hereditary essential tremor
-
Conway D, Bain PG, Warner TT, Davis MB, Findley LJ, Thompson PD, Marsden CD, Harding AE (1993) Linkage analysis with chromosome 9 markers in hereditary essential tremor. Mov Disord 8:374-376
-
(1993)
Mov Disord
, vol.8
, pp. 374-376
-
-
Conway, D.1
Bain, P.G.2
Warner, T.T.3
Davis, M.B.4
Findley, L.J.5
Thompson, P.D.6
Marsden, C.D.7
Harding, A.E.8
-
11
-
-
0038774178
-
Auf hereditärabiotrophischer Grundlage akut auftretende, regressierende und episodische Erkrankungen des Nervensystems und Bemerkungen über die familiäre subakute, myoklonische Dystonie
-
Dawidenkow S (1926) Auf hereditärabiotrophischer Grundlage akut auftretende, regressierende und episodische Erkrankungen des Nervensystems und Bemerkungen über die familiäre subakute, myoklonische Dystonie. Z Ges Neurol Psychiatr 104:596-622
-
(1926)
Z Ges Neurol Psychiatr
, vol.104
, pp. 596-622
-
-
Dawidenkow, S.1
-
12
-
-
0029116672
-
Kindreds of dominantly inherited Parkinson's disease: Keys to the riddle
-
Duvoisin RC, Golbe LI (1995) Kindreds of dominantly inherited Parkinson's disease: keys to the riddle (editorial; comment). Ann Neurol 38:355-356
-
(1995)
Ann Neurol
, vol.38
, pp. 355-356
-
-
Duvoisin, R.C.1
Golbe, L.I.2
-
13
-
-
0029082383
-
Inactivation of the mouse Huntington's disease gene homolog Hdh
-
Duyao MP, Auerbach AB, Ryan A, Persichetti F, Barnes GT, McNeil SM, Ge P, Vonsattel JP, Gusella JF, Joyner AL, et al (1995) Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269:407-410
-
(1995)
Science
, vol.269
, pp. 407-410
-
-
Duyao, M.P.1
Auerbach, A.B.2
Ryan, A.3
Persichetti, F.4
Barnes, G.T.5
McNeil, S.M.6
Ge, P.7
Vonsattel, J.P.8
Gusella, J.F.9
Joyner, A.L.10
-
14
-
-
0021476278
-
The varied clinical expressions of dystonia
-
Fahn S (1984) The varied clinical expressions of dystonia. Neurol Clin 2: 541-553
-
(1984)
Neurol Clin
, vol.2
, pp. 541-553
-
-
Fahn, S.1
-
15
-
-
0024474833
-
Clinical variants of idiopathic torsion dystonia
-
Fahn S (1989) Clinical variants of idiopathic torsion dystonia. J Neurol Neurosurg Psychiatry [Suppl]:96-100
-
(1989)
J Neurol Neurosurg Psychiatry
, Issue.SUPPL.
, pp. 96-100
-
-
Fahn, S.1
-
16
-
-
0029937084
-
Paroxysmal dystoneic choreoathetosis: Tight linkage to chromosome 2q
-
Fink JK, Rainier S, Wilkowski J, Jones SM, Kume A, Hedera P, Albin R, Mathay J, Girbafch L, Varvil T, Otterud B, Leppert M (1996) Paroxysmal dystoneic choreoathetosis: tight linkage to chromosome 2q. Am J Hum Genet 59:140-145
-
(1996)
Am J Hum Genet
, vol.59
, pp. 140-145
-
-
Fink, J.K.1
Rainier, S.2
Wilkowski, J.3
Jones, S.M.4
Kume, A.5
Hedera, P.6
Albin, R.7
Mathay, J.8
Girbafch, L.9
Varvil, T.10
Otterud, B.11
Leppert, M.12
-
17
-
-
0000483418
-
Hereditary disorder characterized by attacks of muscular contractions, induced by alcohol amongst other factors
-
Forssman H (1961) Hereditary disorder characterized by attacks of muscular contractions, induced by alcohol amongst other factors. Acta Med Scand 170:517-533
-
(1961)
Acta Med Scand
, vol.170
, pp. 517-533
-
-
Forssman, H.1
-
18
-
-
0029896267
-
A gene for familial paroxysmal dyskinesia (FDP1) maps to chromosome 2q
-
Fouad GT, Servidei S, Simon D, Bertini E, Ptacek LJ (1996) A gene for familial paroxysmal dyskinesia (FDP1) maps to chromosome 2q. Am J Hum Genet 59:135-139
-
(1996)
Am J Hum Genet
, vol.59
, pp. 135-139
-
-
Fouad, G.T.1
Servidei, S.2
Simon, D.3
Bertini, E.4
Ptacek, L.J.5
-
19
-
-
0028124654
-
Genetic linkage studies in autosomal dominant parkinsonism: Evaluation of seven candidate genes
-
Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO (1994) Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol 36:387-396
-
(1994)
Ann Neurol
, vol.36
, pp. 387-396
-
-
Gasser, T.1
Wszolek, Z.K.2
Trofatter, J.3
Ozelius, L.4
Uitti, R.J.5
Lee, C.S.6
Gusella, J.7
Pfeiffer, R.F.8
Calne, D.B.9
Breakefield, X.O.10
-
20
-
-
0030062198
-
Linkage studies in alcohol-responsive myoclonic dystonia
-
Gasser T, Bereznai B, Müller B, Pruszak-Seel R, Damrich R, Deuschl G, Oertel WH (1996) Linkage studies in alcohol-responsive myoclonic dystonia. Mov Disord 12:363-370
-
(1996)
Mov Disord
, vol.12
, pp. 363-370
-
-
Gasser, T.1
Bereznai, B.2
Müller, B.3
Pruszak-Seel, R.4
Damrich, R.5
Deuschl, G.6
Oertel, W.H.7
-
21
-
-
0029879835
-
Occupational hand dystonia is not associated with the common haplotype for generalized dystonia in Ashkenazi Jews
-
Gasser T, Bove C, Hallett M, Charness M, Hochberg F, Breakefield XO (1996) Occupational hand dystonia is not associated with the common haplotype for generalized dystonia in Ashkenazi Jews. Mov Disord 11:163-166
-
(1996)
Mov Disord
, vol.11
, pp. 163-166
-
-
Gasser, T.1
Bove, C.2
Hallett, M.3
Charness, M.4
Hochberg, F.5
Breakefield, X.O.6
-
22
-
-
0029851872
-
The CYP2D6B allele is not over-represented in a population of German patients with idiopathic Parkinson's disease
-
Gasser T, Müller-Myhsok B, Supala A, Zimmer R, Wieditz G, Vieregge P, Wszolek Z, Bonifati V, Oertel WH (1996) The CYP2D6B allele is not over-represented in a population of German patients with idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry 61:518-520
-
(1996)
J Neurol Neurosurg Psychiatry
, vol.61
, pp. 518-520
-
-
Gasser, T.1
Müller-Myhsok, B.2
Supala, A.3
Zimmer, R.4
Wieditz, G.5
Vieregge, P.6
Wszolek, Z.7
Bonifati, V.8
Oertel, W.H.9
-
23
-
-
0025344485
-
A large kindred with autosomal dominant Parkinson's disease
-
Golbe LI, Di Iorio G, Bonavita V, Miller DC, Duvoisin RC (1990) A large kindred with autosomal dominant Parkinson's disease. Ann Neurol 27: 276-282
-
(1990)
Ann Neurol
, vol.27
, pp. 276-282
-
-
Golbe, L.I.1
Di Iorio, G.2
Bonavita, V.3
Miller, D.C.4
Duvoisin, R.C.5
-
24
-
-
9344227302
-
Cleavage of huntington by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
-
Goldberg YP, Nicholson DW, Rasper DM, Kalchman MA, Koide HB, Graham RK, Bromm M, Kazemi-Esfarjani P, Thornberry NA, Vaillancourt JP, Hayden MR (1996) Cleavage of huntington by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet 13: 442-449
-
(1996)
Nat Genet
, vol.13
, pp. 442-449
-
-
Goldberg, Y.P.1
Nicholson, D.W.2
Rasper, D.M.3
Kalchman, M.A.4
Koide, H.B.5
Graham, R.K.6
Bromm, M.7
Kazemi-Esfarjani, P.8
Thornberry, N.A.9
Vaillancourt, J.P.10
Hayden, M.R.11
-
25
-
-
0018073135
-
Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features
-
Goodenough DJ, Fariello RG, Annis BL, Chun RW (1978) Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features. Arch Neurol 35: 827-831
-
(1978)
Arch Neurol
, vol.35
, pp. 827-831
-
-
Goodenough, D.J.1
Fariello, R.G.2
Annis, B.L.3
Chun, R.W.4
-
26
-
-
0026629916
-
Delineation of the dystonia-parkinsonism syndrome locus in Xq13
-
Graeber MB, Kupke KG, Muller U (1992) Delineation of the dystonia-parkinsonism syndrome locus in Xq13. Proc Natl Acad Sci USA 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
-
27
-
-
0028067526
-
Discordant twins with Parkinson's disease: Positron emission tomography and early signs of impaired cognitive circuits
-
Holthoff VA, Vieregge P, Kassier J, Pietrzyk U, Herholz K, Bonner J, Wagner R, Wienhard K, Pawlik G, Heiss WD (1994) Discordant twins with Parkinson's disease: positron emission tomography and early signs of impaired cognitive circuits. Ann Neurol 36:176-182
-
(1994)
Ann Neurol
, vol.36
, pp. 176-182
-
-
Holthoff, V.A.1
Vieregge, P.2
Kassier, J.3
Pietrzyk, U.4
Herholz, K.5
Bonner, J.6
Wagner, R.7
Wienhard, K.8
Pawlik, G.9
Heiss, W.D.10
-
28
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntington's Disease Collaborative Research Group
-
Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72: 971-983
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
29
-
-
0028151448
-
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
-
Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, et al (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene (comments). Nat Genet 8: 236-242
-
(1994)
Nat Genet
, vol.8
, pp. 236-242
-
-
Ichinose, H.1
Ohye, T.2
Takahashi, E.3
Seki, N.4
Hori, T.5
Segawa, M.6
Nomura, Y.7
Endo, K.8
Tanaka, H.9
Tsuji, S.10
-
30
-
-
0028470671
-
Guidelines for the molecular genetics predictive test in Huntington's disease
-
International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea (1994) Guidelines for the molecular genetics predictive test in Huntington's disease. J Med Genet 31:555-559
-
(1994)
J Med Genet
, vol.31
, pp. 555-559
-
-
-
31
-
-
0014109480
-
Paroxysmal kinesigenic choreoathetosis
-
Keretz A (1967) Paroxysmal kinesigenic choreoathetosis. Neurology 17: 680-690
-
(1967)
Neurology
, vol.17
, pp. 680-690
-
-
Keretz, A.1
-
32
-
-
0029049876
-
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
-
Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K (1995) Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum Mol Genet 4:1209-1212
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1209-1212
-
-
Knappskog, P.M.1
Flatmark, T.2
Mallet, J.3
Ludecke, B.4
Bartholome, K.5
-
33
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, et al (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
-
34
-
-
0025238901
-
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34
-
Kramer PL, Leon D de, Ozelius L, Risch N, Bressman SB, Brin MF, Schuback DE, Breakefield XO (1991) Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol 27:114-120
-
(1991)
Ann Neurol
, vol.27
, pp. 114-120
-
-
Kramer, P.L.1
De Leon, D.2
Ozelius, L.3
Risch, N.4
Bressman, S.B.5
Brin, M.F.6
Schuback, D.E.7
Breakefield, X.O.8
-
35
-
-
0027930349
-
The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews
-
Kramer PL, Heiman GA, Gasser T, Ozelius LJ, Leon D de, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C, et al (1994) The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 55:468-475
-
(1994)
Am J Hum Genet
, vol.55
, pp. 468-475
-
-
Kramer, P.L.1
Heiman, G.A.2
Gasser, T.3
Ozelius, L.J.4
De Leon, D.5
Brin, M.F.6
Burke, R.E.7
Hewett, J.8
Hunt, A.L.9
Moskowitz, C.10
-
36
-
-
0023529449
-
Familial paroxysmal dystonic choreoathetosis: A family study
-
Kurlan R, Behr J, Medved L, Shoulson I (1987) Familial paroxysmal dystonic choreoathetosis: a family study. Mov Disord 2:187-192
-
(1987)
Mov Disord
, vol.2
, pp. 187-192
-
-
Kurlan, R.1
Behr, J.2
Medved, L.3
Shoulson, I.4
-
37
-
-
0025084837
-
Alcohol-responsive myoclonic dystonia in a large family: Dominant inheritance and phenotypic variation
-
Kyllerman M, Forsgren L, Sanner G, Holmgren G, Wahlstrom J, Drugge U (1990) Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. Mov Disord 5:270-279
-
(1990)
Mov Disord
, vol.5
, pp. 270-279
-
-
Kyllerman, M.1
Forsgren, L.2
Sanner, G.3
Holmgren, G.4
Wahlstrom, J.5
Drugge, U.6
-
38
-
-
0017616188
-
Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes
-
Lance JW (1977) Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 2:285-293
-
(1977)
Ann Neurol
, vol.2
, pp. 285-293
-
-
Lance, J.W.1
-
39
-
-
0028891145
-
Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals
-
Landwehrmeyer GB, McNeil SM, Dure LS 4th, Ge P, Aizawa H, Huang Q, Ambrose GM, Duyao MP, Bird ED, Bonilla E, et al (1995) Huntington's disease gene: regional and cellular expression in brain of normal and affected individuals. Ann Neurol 37: 218-230
-
(1995)
Ann Neurol
, vol.37
, pp. 218-230
-
-
Landwehrmeyer, G.B.1
McNeil, S.M.2
Dure IV, L.S.3
Ge, P.4
Aizawa, H.5
Huang, Q.6
Ambrose, G.M.7
Duyao, M.P.8
Bird, E.D.9
Bonilla, E.10
-
40
-
-
0028331444
-
A clinical genetic study of Parkinson's disease: Evidence for dominant transmission
-
Lazzarini AM, Myers RH, Zimmerman TR Jr, Mark MH, Golbe LI, Sage JI, Johnson WG, Duvoisin RC (1994) A clinical genetic study of Parkinson's disease: evidence for dominant transmission. Neurology 44:499-506
-
(1994)
Neurology
, vol.44
, pp. 499-506
-
-
Lazzarini, A.M.1
Myers, R.H.2
Zimmerman Jr., T.R.3
Mark, M.H.4
Golbe, L.I.5
Sage, J.I.6
Johnson, W.G.7
Duvoisin, R.C.8
-
41
-
-
0029798561
-
Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
-
Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G (1996) Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 5:1673-1677
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1673-1677
-
-
Leube, B.1
Rudnicki, D.2
Ratzlaff, T.3
Kessler, K.R.4
Benecke, R.5
Auburger, G.6
-
42
-
-
0028815287
-
Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease
-
Lucotte G, Turpin JC, Riess O, Epplen JT, Siedlaczk I, Loirat F, Hazout S (1995) Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease. Hum Genet 95:231-232
-
(1995)
Hum Genet
, vol.95
, pp. 231-232
-
-
Lucotte, G.1
Turpin, J.C.2
Riess, O.3
Epplen, J.T.4
Siedlaczk, I.5
Loirat, F.6
Hazout, S.7
-
43
-
-
0027948959
-
Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex
-
Lynch T, Sano M, Marder KS, Bell KL, Foster NL, Defendini RF, Sima AA, Keohane C, Nygaard TC, Fahn S, et al. (1994) Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology 44: 1878-1884
-
(1994)
Neurology
, vol.44
, pp. 1878-1884
-
-
Lynch, T.1
Sano, M.2
Marder, K.S.3
Bell, K.L.4
Foster, N.L.5
Defendini, R.F.6
Sima, A.A.7
Keohane, C.8
Nygaard, T.C.9
Fahn, S.10
-
44
-
-
0027436470
-
Molecular analysis and clinical correlations of the Huntington's disease mutation
-
MacMillan JC, Snell RG, Tyler A, Houlihan GD, Fenton I, Cheadle JP, Lazarou LP, Shaw DJ, Harper PS (1993) Molecular analysis and clinical correlations of the Huntington's disease mutation. Lancet 342:954-958
-
(1993)
Lancet
, vol.342
, pp. 954-958
-
-
MacMillan, J.C.1
Snell, R.G.2
Tyler, A.3
Houlihan, G.D.4
Fenton, I.5
Cheadle, J.P.6
Lazarou, L.P.7
Shaw, D.J.8
Harper, P.S.9
-
45
-
-
0029055717
-
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
-
Nasir J, Floresco SB, O'Kusky JR, Diewert VM, Richman JM, Zeisler J, Borowski A, Marth JD, Phillips AG, Hayden MR (1995) Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81:811-823
-
(1995)
Cell
, vol.81
, pp. 811-823
-
-
Nasir, J.1
Floresco, S.B.2
O'Kusky, J.R.3
Diewert, V.M.4
Richman, J.M.5
Zeisler, J.6
Borowski, A.7
Marth, J.D.8
Phillips, A.G.9
Hayden, M.R.10
-
46
-
-
0025124542
-
Dopa-responsive dystonia: The spectrum of clinical manifestations in a large North American family
-
Nygaard TG, Trugman JM, Yebenes JG de, Fahn S (1990) Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family. Neurology 40:66-69
-
(1990)
Neurology
, vol.40
, pp. 66-69
-
-
Nygaard, T.G.1
Trugman, J.M.2
De Yebenes, J.G.3
Fahn, S.4
-
47
-
-
0027377709
-
Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q
-
Nygaard TG, Wilhelmsen KC, Risch NH, Brown DL, Trugman JM, Gilliam TC, Fahn S, Weeks DE (1993) Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q. Nat Genet 5:386-391
-
(1993)
Nat Genet
, vol.5
, pp. 386-391
-
-
Nygaard, T.G.1
Wilhelmsen, K.C.2
Risch, N.H.3
Brown, D.L.4
Trugman, J.M.5
Gilliam, T.C.6
Fahn, S.7
Weeks, D.E.8
-
48
-
-
0024657745
-
Human gene for torsion dystonia located on chromosome 9q32-q34
-
Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, Leon D de, et al (1989) Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 2:1427-1434
-
(1989)
Neuron
, vol.2
, pp. 1427-1434
-
-
Ozelius, L.1
Kramer, P.L.2
Moskowitz, C.B.3
Kwiatkowski, D.J.4
Brin, M.F.5
Bressman, S.B.6
Schuback, D.E.7
Falk, C.T.8
Risch, N.9
De Leon, D.10
-
49
-
-
0026329555
-
Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34
-
Ozelius LJ, Kramer PL, Leon D de, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF, Ozelius L, Perman S, Fahn S, Breakefield XO (1991) Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews. Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34. Am J Hum Genet 49:366-371
-
(1991)
Am J Hum Genet
, vol.49
, pp. 366-371
-
-
Ozelius, L.J.1
Kramer, P.L.2
De Leon, D.3
Risch, N.4
Bressman, S.B.5
Schuback, D.E.6
Brin, M.F.7
Kwiatkowski, D.J.8
Burke, R.E.9
Gusella, J.F.10
Ozelius, L.11
Perman, S.12
Fahn, S.13
Breakefield, X.O.14
-
50
-
-
0028040512
-
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: Genomic organization, alternative splicing, and structure/function predictions
-
Petrukhin K, Lutsenko S, Chernov I, Ross BM, Kaplan JH, Gilliam TC (1994) Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions. Hum Mol Genet 3:1647-1656
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1647-1656
-
-
Petrukhin, K.1
Lutsenko, S.2
Chernov, I.3
Ross, B.M.4
Kaplan, J.H.5
Gilliam, T.C.6
-
51
-
-
0027989294
-
Debrisoquine hydroxylase gene polymorphism in familial Parkinson's disease
-
Plante Bordeneuve V, Davis MB, Maraganore DM, Marsden CD, Harding AE (1994) Debrisoquine hydroxylase gene polymorphism in familial Parkinson's disease. J Neurol Neurosurg Psychiatry 57:911-913
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 911-913
-
-
Plante Bordeneuve, V.1
Davis, M.B.2
Maraganore, D.M.3
Marsden, C.D.4
Harding, A.E.5
-
52
-
-
10544234193
-
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23
-
Polymeropoulos MH, Higgins JJ, Golbe LI, et al (1996) Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science 274: 1197-1199
-
(1996)
Science
, vol.274
, pp. 1197-1199
-
-
Polymeropoulos, M.H.1
Higgins, J.J.2
Golbe, L.I.3
-
53
-
-
0023763764
-
Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: An area of confusion
-
Quinn NP, Rothwell JC, Thompson PD, Marsden CD (1988) Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv Neurol 50:391-401
-
(1988)
Adv Neurol
, vol.50
, pp. 391-401
-
-
Quinn, N.P.1
Rothwell, J.C.2
Thompson, P.D.3
Marsden, C.D.4
-
54
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
-
Risch N, Leon D de, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S (1995) Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 9:152-159
-
(1995)
Nat Genet
, vol.9
, pp. 152-159
-
-
Risch, N.1
De Leon, D.2
Ozelius, L.3
Kramer, P.4
Almasy, L.5
Singer, B.6
Fahn, S.7
Breakefield, X.8
Bressman, S.9
-
55
-
-
0029997090
-
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
-
Rubinsztein DC, Leggo J, Coles R, et al (1996) Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 59:16-22
-
(1996)
Am J Hum Genet
, vol.59
, pp. 16-22
-
-
Rubinsztein, D.C.1
Leggo, J.2
Coles, R.3
-
56
-
-
0028110333
-
Normal CAG repeat length in the Huntington's disease gene in senile chorea
-
Shinotoh H, Calne DB, Snow B, Hayward M, Kremer B, Theilmann J, Hayden MR (1994) Normal CAG repeat length in the Huntington's disease gene in senile chorea. Neurology 44:2183-2184
-
(1994)
Neurology
, vol.44
, pp. 2183-2184
-
-
Shinotoh, H.1
Calne, D.B.2
Snow, B.3
Hayward, M.4
Kremer, B.5
Theilmann, J.6
Hayden, M.R.7
-
57
-
-
0026747176
-
Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease
-
corrected to Maraganore DM [erratum published in Lancet (1992) 340:64]
-
Smith CA, Gough AC, Leigh PN, Summers BA, Harding AE, Maraganore DM, Sturman SG, Schapira AH, Williams AC, Maranganore DM [corrected to Maraganore DM] (1992) Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease [erratum published in Lancet (1992) 340:64]. Lancet 339:1375-1377
-
(1992)
Lancet
, vol.339
, pp. 1375-1377
-
-
Smith, C.A.1
Gough, A.C.2
Leigh, P.N.3
Summers, B.A.4
Harding, A.E.5
Maraganore, D.M.6
Sturman, S.G.7
Schapira, A.H.8
Williams, A.C.9
Maranganore, D.M.10
-
58
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
Tanzi RE, Petrukhin K, Chernov I, Pellequr JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, et al (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 5:344-350
-
(1993)
Nat Genet
, vol.5
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
Pellequr, J.L.4
Wasco, W.5
Ross, B.6
Romano, D.M.7
Parano, E.8
Pavone, L.9
Brzustowicz, L.M.10
-
59
-
-
0028869945
-
The Wilson disease gene: Spectrum of mutations and their consequences
-
Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW (1995) The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet 9:210-217
-
(1995)
Nat Genet
, vol.9
, pp. 210-217
-
-
Thomas, G.R.1
Forbes, J.R.2
Roberts, E.A.3
Walshe, J.M.4
Cox, D.W.5
-
60
-
-
0029055601
-
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
-
Trottier Y, Devys D, Imbert G, Saudou F, An I, Lutz Y, Weber C, Agid Y, Hirsch EC, Mandel JL (1995) Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet 10:104-110
-
(1995)
Nat Genet
, vol.10
, pp. 104-110
-
-
Trottier, Y.1
Devys, D.2
Imbert, G.3
Saudou, F.4
An, I.5
Lutz, Y.6
Weber, C.7
Agid, Y.8
Hirsch, E.C.9
Mandel, J.L.10
-
61
-
-
0029090063
-
Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion
-
Tuite PJ, Rogaeva EA, St George Hyslop PH, Lang AE (1995) Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Ann Neurol 38:684-687
-
(1995)
Ann Neurol
, vol.38
, pp. 684-687
-
-
Tuite, P.J.1
Rogaeva, E.A.2
St George Hyslop, P.H.3
Lang, A.E.4
-
62
-
-
0029005009
-
Increased risk of Parkinson's disease in relatives of patients
-
Vieregge P, Heberlein I (1995) Increased risk of Parkinson's disease in relatives of patients (letter). Ann Neurol 37:685
-
(1995)
Ann Neurol
, vol.37
, pp. 685
-
-
Vieregge, P.1
Heberlein, I.2
-
64
-
-
0028256151
-
The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q
-
Wahlstrom J, Ozelius L, Kramer P, Kyllerman M, Schuback D, Forsgren L, Holmgren G, Drugge U, Sanner G, Fahn S, et al (1994) The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q. Clin Genet 45: 88-92
-
(1994)
Clin Genet
, vol.45
, pp. 88-92
-
-
Wahlstrom, J.1
Ozelius, L.2
Kramer, P.3
Kyllerman, M.4
Schuback, D.5
Forsgren, L.6
Holmgren, G.7
Drugge, U.8
Sanner, G.9
Fahn, S.10
-
66
-
-
0028073692
-
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22
-
Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG (1994) Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 55:1159-1165
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1159-1165
-
-
Wilhelmsen, K.C.1
Lynch, T.2
Pavlou, E.3
Higgins, M.4
Nygaard, T.G.5
-
67
-
-
0345117375
-
Progress in genetic localization of the gene for hereditary essential myoclonus
-
Wilhelmsen KC, Nygaard T, Weeks DE, Przuntek H, Kraus P, Klotz P, Quinn NP, Sjaastad O, Fahn S (1994) Progress in genetic localization of the gene for hereditary essential myoclonus (abstract). Mov Disord 9:132
-
(1994)
Mov Disord
, vol.9
, pp. 132
-
-
Wilhelmsen, K.C.1
Nygaard, T.2
Weeks, D.E.3
Przuntek, H.4
Kraus, P.5
Klotz, P.6
Quinn, N.P.7
Sjaastad, O.8
Fahn, S.9
-
68
-
-
0027996828
-
Dynamic mutations hit double figures
-
Willems PJ (1996) Dynamic mutations hit double figures. Nat Genet 8:213-215
-
(1996)
Nat Genet
, vol.8
, pp. 213-215
-
-
Willems, P.J.1
-
69
-
-
0026775551
-
Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration
-
Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, Snow BJ, Rodnitzky RL, Wotlers EC, Arwert F, Calne DB (1992) Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol 32:312-320
-
(1992)
Ann Neurol
, vol.32
, pp. 312-320
-
-
Wszolek, Z.K.1
Pfeiffer, R.F.2
Bhatt, M.H.3
Schelper, R.L.4
Cordes, M.5
Snow, B.J.6
Rodnitzky, R.L.7
Wotlers, E.C.8
Arwert, F.9
Calne, D.B.10
-
70
-
-
0027279516
-
Hereditary Parkinson disease: Report of 3 families with dominant autosomal inheritance
-
Wszolek ZK, Cordes M, Calne DB, Munter MD, Cordes I, Pfeifer RF (1993) Hereditary Parkinson disease: report of 3 families with dominant autosomal inheritance. Nervenarzt 64:331-335
-
(1993)
Nervenarzt
, vol.64
, pp. 331-335
-
-
Wszolek, Z.K.1
Cordes, M.2
Calne, D.B.3
Munter, M.D.4
Cordes, I.5
Pfeifer, R.F.6
-
71
-
-
0029049738
-
Western Nebraska family (family D) with autosomal dominant parkinsonism
-
Wszolek ZK, Pfeiffer B, Fulgham JR, Parisi JE, Thompson BM, Uitti RJ, Calne DB, Pfeiffer RF (1995) Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurology 45:502-505
-
(1995)
Neurology
, vol.45
, pp. 502-505
-
-
Wszolek, Z.K.1
Pfeiffer, B.2
Fulgham, J.R.3
Parisi, J.E.4
Thompson, B.M.5
Uitti, R.J.6
Calne, D.B.7
Pfeiffer, R.F.8
-
72
-
-
0030052018
-
Neuropathological diagnosis of CAG repeat expansion in Huntington's disease
-
Xuereb JH, MacMillan JC, Snell R, Davies P, Harper PS (1996) Neuropathological diagnosis of CAG repeat expansion in Huntington's disease. J Neurol Neurosurg Psychiatry 60:78-81
-
(1996)
J Neurol Neurosurg Psychiatry
, vol.60
, pp. 78-81
-
-
Xuereb, J.H.1
MacMillan, J.C.2
Snell, R.3
Davies, P.4
Harper, P.S.5
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