-
1
-
-
0000613043
-
Classification and investigation of dystonia
-
Marsden CD, Fahn S, eds. London: Butterworths
-
Fahn S, Marsden CD, Calne DB. Classification and investigation of dystonia. In: Marsden CD, Fahn S, eds. Movement disorders 2. London: Butterworths, 1987:332-58.
-
(1987)
Movement Disorders 2
, pp. 332-358
-
-
Fahn, S.1
Marsden, C.D.2
Calne, D.B.3
-
3
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet Genet 1997;17:40-8.
-
(1997)
Nat Genet Genet
, vol.17
, pp. 40-48
-
-
Ozelius, L.J.1
Hewett, J.W.2
Page, C.E.3
-
4
-
-
0031797115
-
The role of DYT1 in primary torsion dystonia in Europe
-
Valente EM, Warner TT, Jarman PR, et al. The role of DYT1 in primary torsion dystonia in Europe. Brain 1998; 121:2335-9.
-
(1998)
Brain
, vol.121
, pp. 2335-2339
-
-
Valente, E.M.1
Warner, T.T.2
Jarman, P.R.3
-
5
-
-
0027988344
-
Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation
-
Bressman SB, de Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994;36:771-7.
-
(1994)
Ann Neurol
, vol.36
, pp. 771-777
-
-
Bressman, S.B.1
De Leon, D.2
Kramer, P.L.3
-
6
-
-
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, et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 1994;55:468-75.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 468-475
-
-
Kramer, P.L.1
Heiman, G.A.2
Gasser, T.3
-
7
-
-
0027401233
-
Evidence for locus heterogeneity in autosomal dominant torsion dystonia
-
Ahmad F, Davis MB, Waddy HM, et al. Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics 1993;15:9-12.
-
(1993)
Genomics
, vol.15
, pp. 9-12
-
-
Ahmad, F.1
Davis, M.B.2
Waddy, H.M.3
-
9
-
-
10244255192
-
Exclusion of the DYT 1 locus in familial torticollis
-
Bressman SB, Warner TT, Almasy L, et al. Exclusion of the DYT 1 locus in familial torticollis. Ann Neurol 1996;40: 681-4.
-
(1996)
Ann Neurol
, vol.40
, pp. 681-684
-
-
Bressman, S.B.1
Warner, T.T.2
Almasy, L.3
-
10
-
-
0026099811
-
A genetic study of idiopathic focal dystonias
-
Waddy HM, Fletcher NA, Harding AE, et al. A genetic study of idiopathic focal dystonias. Ann Neurol 1991;29: 320-4.
-
(1991)
Ann Neurol
, vol.29
, pp. 320-324
-
-
Waddy, H.M.1
Fletcher, N.A.2
Harding, A.E.3
-
11
-
-
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, et al. 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 1996;5:1673-7.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1673-1677
-
-
Leube, B.1
Rudnicki, D.2
Ratzlaff, T.3
-
12
-
-
0030868892
-
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
-
Almasy L, Bressman SB, Raymond D, et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997;42:670-3.
-
(1997)
Ann Neurol
, vol.42
, pp. 670-673
-
-
Almasy, L.1
Bressman, S.B.2
Raymond, D.3
-
13
-
-
0028344689
-
A study of idiopathic torsion dystonia in a non-Jewish family: Evidence for genetic heterogeneity
-
Bressman SB, Heiman GA, Nygaard TG, et al. A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 1994;44:283-7.
-
(1994)
Neurology
, vol.44
, pp. 283-287
-
-
Bressman, S.B.1
Heiman, G.A.2
Nygaard, T.G.3
-
14
-
-
0027494629
-
Adult onset familial cervical dystonia: Report of a family including monozygotic twins
-
Uitti RJ, Maraganore DM. Adult onset familial cervical dystonia: report of a family including monozygotic twins. Mov Disord 1993;8:489-94.
-
(1993)
Mov Disord
, vol.8
, pp. 489-494
-
-
Uitti, R.J.1
Maraganore, D.M.2
-
15
-
-
0021816202
-
Hereditary whispering dysphonia
-
Parker N. Hereditary whispering dysphonia. J Neurol Neurosurg Psychiatry 1985;48:218-24.
-
(1985)
J Neurol Neurosurg Psychiatry
, vol.48
, pp. 218-224
-
-
Parker, N.1
-
16
-
-
0023933932
-
Efficient computations in multilocus linkage analysis
-
Lathrop GM, Lalouel JM. Efficient computations in multilocus linkage analysis. Am J Hum Genet 1988;42:498-505.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 498-505
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
17
-
-
0028790963
-
The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance
-
O'Connell JR, Weeks DE. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance. Nat Genet 1995;11: 402-8.
-
(1995)
Nat Genet
, vol.11
, pp. 402-408
-
-
O'Connell, J.R.1
Weeks, D.E.2
-
18
-
-
0030875011
-
Sporadic focal dystonia in northwest Germany: Molecular basis on chromosome 18p
-
Leube B, Hendgen T, Kessler KR, et al. Sporadic focal dystonia in northwest Germany: molecular basis on chromosome 18p. Ann Neurol 1997;42:111-4.
-
(1997)
Ann Neurol
, vol.42
, pp. 111-114
-
-
Leube, B.1
Hendgen, T.2
Kessler, K.R.3
-
19
-
-
0026099811
-
A genetic study of idiopathic focal dystonias
-
Waddy HM, Fletcher NA, Harding AE, et al. A genetic study of idiopathic focal dystonias. Ann Neurol 1991;29: 320-4.
-
(1991)
Ann Neurol
, vol.29
, pp. 320-324
-
-
Waddy, H.M.1
Fletcher, N.A.2
Harding, A.E.3
|