-
1
-
-
0034624938
-
The DYT1 phenotype and guidelines for diagnostic testing
-
Bressman S.B., Sabatti C., Raymond D., et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology. 54:2000;1746-1752.
-
(2000)
Neurology
, vol.54
, pp. 1746-1752
-
-
Bressman, S.B.1
Sabatti, C.2
Raymond, D.3
-
2
-
-
0032803294
-
Detailed haplotype analysis in Ashkenazi-Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: Evidence for a limited number of founder mutations
-
Valente E.M., Povey S., Warner T.T., Wood N.W., Davis M.B. Detailed haplotype analysis in Ashkenazi-Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations. Ann Hum Genet. 63:1999;1-8.
-
(1999)
Ann Hum Genet
, vol.63
, pp. 1-8
-
-
Valente, E.M.1
Povey, S.2
Warner, T.T.3
Wood, N.W.4
Davis, M.B.5
-
3
-
-
0027930349
-
The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews
-
Kramer P.L., Heiman G.A., 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. 55:1994;468-475.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 468-475
-
-
Kramer, P.L.1
Heiman, G.A.2
Gasser, T.3
-
4
-
-
15144348731
-
Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium
-
Ozelius L.J., Hewett J., Kramer P., et al. Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res. 7:1997;483-494.
-
(1997)
Genome Res
, vol.7
, pp. 483-494
-
-
Ozelius, L.J.1
Hewett, J.2
Kramer, P.3
-
5
-
-
0034059944
-
Frequency of the DYT1 mutation in primary torsion dystonia without family history
-
Brassat D., Camuzat A., Vidailhet M., et al. Frequency of the DYT1 mutation in primary torsion dystonia without family history. Arch Neurol. 57:(3):2000;333-335.
-
(2000)
Arch Neurol
, vol.57
, Issue.3
, pp. 333-335
-
-
Brassat, D.1
Camuzat, A.2
Vidailhet, M.3
-
6
-
-
0032895322
-
Phenotypic variability of the DYT1 mutation in German dystonia patients
-
Leube B., Kessler K.R., Ferbert A., et al. Phenotypic variability of the DYT1 mutation in German dystonia patients. Acta Neurol Scand. 99:1999;248-251.
-
(1999)
Acta Neurol Scand
, vol.99
, pp. 248-251
-
-
Leube, B.1
Kessler, K.R.2
Ferbert, A.3
-
7
-
-
0032951850
-
DYT1 mutation in French families with idiopathic torsion dystonia
-
Lebre A.S., Durr A., Jedynak P., et al. DYT1 mutation in French families with idiopathic torsion dystonia. Brain. 122:1999;41-45.
-
(1999)
Brain
, vol.122
, pp. 41-45
-
-
Lebre, A.S.1
Durr, A.2
Jedynak, P.3
-
8
-
-
0032895322
-
Phenotypic variability of the DYT1 mutation in German dystonia patients
-
Leube B., Kessler K.R., Ferbert A., et al. Phenotypic variability of the DYT1 mutation in German dystonia patients. Acta Neurol Scand. 99:1999;248-251.
-
(1999)
Acta Neurol Scand
, vol.99
, pp. 248-251
-
-
Leube, B.1
Kessler, K.R.2
Ferbert, A.3
-
9
-
-
0031797115
-
The role of DYT1 in primary torsion dystonia in Europe
-
Valente E.M., Warner T.T., Jarman P.R., et al. The role of DYT1 in primary torsion dystonia in Europe. Brain. 121:1998;2335-2339.
-
(1998)
Brain
, vol.121
, pp. 2335-2339
-
-
Valente, E.M.1
Warner, T.T.2
Jarman, P.R.3
-
11
-
-
0031878303
-
Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset
-
Gasser T., Windgassen K., Bereznai B., Kabus C., Ludolph A.C. Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. Ann Neurol. 44:1998;126-128.
-
(1998)
Ann Neurol
, vol.44
, pp. 126-128
-
-
Gasser, T.1
Windgassen, K.2
Bereznai, B.3
Kabus, C.4
Ludolph, A.C.5
-
13
-
-
0025373514
-
Myoclonic dystonia generalized reflex myoclonus in a patient with alcohol-sensitive spontaneous myoclonus and an abnormal gait
-
Artieda J., Luquin M.R., Vaamonde J., Laguna J., Obeso J.A. Myoclonic dystonia generalized reflex myoclonus in a patient with alcohol-sensitive spontaneous myoclonus and an abnormal gait. Mov Disord. 5:1990;85-88.
-
(1990)
Mov Disord
, vol.5
, pp. 85-88
-
-
Artieda, J.1
Luquin, M.R.2
Vaamonde, J.3
Laguna, J.4
Obeso, J.A.5
-
14
-
-
0033754411
-
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families
-
Klein C., Schilling K., Saunders-Pullman R.J., et al. A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am J Hum Genet. 67:2000;1314-1319.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1314-1319
-
-
Klein, C.1
Schilling, K.2
Saunders-Pullman, R.J.3
-
15
-
-
0035826884
-
A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q
-
Vidailhet M., Tassin J., Durif F., et al. A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q. Neurology. 56:2001;1213-1216.
-
(2001)
Neurology
, vol.56
, pp. 1213-1216
-
-
Vidailhet, M.1
Tassin, J.2
Durif, F.3
-
16
-
-
0021826543
-
The anatomical basis of symptomatic hemidystonia
-
Marsden C.D., Obeso J.A., Zarranz J.J., Lang A.E. The anatomical basis of symptomatic hemidystonia. Brain. 108:(Part 2):1985;463-483.
-
(1985)
Brain
, vol.108
, Issue.PART 2
, pp. 463-483
-
-
Marsden, C.D.1
Obeso, J.A.2
Zarranz, J.J.3
Lang, A.E.4
-
17
-
-
0036460856
-
Late-onset axial jerky dystonia due to the DYT1 deletion
-
Chinnery P.F., Reading P.J., McCarthy E.L., Curtis A., Burn D.J. Late-onset axial jerky dystonia due to the DYT1 deletion. Mov Disord. 17:2002;196-198.
-
(2002)
Mov Disord
, vol.17
, pp. 196-198
-
-
Chinnery, P.F.1
Reading, P.J.2
McCarthy, E.L.3
Curtis, A.4
Burn, D.J.5
-
18
-
-
18044403431
-
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
-
Leung J.C., Klein C., Friedman J., et al. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics. 3:2001;133-143.
-
(2001)
Neurogenetics
, vol.3
, pp. 133-143
-
-
Leung, J.C.1
Klein, C.2
Friedman, J.3
|