-
2
-
-
0036212214
-
The genetics of primary dystonias and related disorders
-
Nemeth A.H. The genetics of primary dystonias and related disorders. Brain 125 (2002) 695-721
-
(2002)
Brain
, vol.125
, pp. 695-721
-
-
Nemeth, A.H.1
-
3
-
-
0033572356
-
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia
-
Ozelius L.J., Page C.E., Klein C., Hewett J.W., Mineta M., Leung J., et al. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 62 (1999) 377-384
-
(1999)
Genomics
, vol.62
, pp. 377-384
-
-
Ozelius, L.J.1
Page, C.E.2
Klein, C.3
Hewett, J.W.4
Mineta, M.5
Leung, J.6
-
4
-
-
33746303591
-
Genetic testing and genetic counseling
-
Brin M.F., Comella C.L., and Jankovic J. (Eds), Lippincott Williams & Wilkins, Philadelphia
-
Doheny D.O., de Leon D., and Raymond D. Genetic testing and genetic counseling. In: Brin M.F., Comella C.L., and Jankovic J. (Eds). Dystonia: etiology, clinical features, and treatment (2004), Lippincott Williams & Wilkins, Philadelphia 23-32
-
(2004)
Dystonia: etiology, clinical features, and treatment
, pp. 23-32
-
-
Doheny, D.O.1
de Leon, D.2
Raymond, D.3
-
5
-
-
0031797115
-
The role of DYT1 in primary dystonia in Europe
-
Valente E.M., Warner T.T., Jarman P.R., Mathen D., Fletcher N.A., Marsden C.D., et al. The role of DYT1 in primary 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
Mathen, D.4
Fletcher, N.A.5
Marsden, C.D.6
-
6
-
-
0033435220
-
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany
-
Kamm C., Castelon-Konkiewitz E., Naumann M., Heinen F., Brack M., Nebe A., et al. GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov Disord 14 (1999) 681-683
-
(1999)
Mov Disord
, vol.14
, pp. 681-683
-
-
Kamm, C.1
Castelon-Konkiewitz, E.2
Naumann, M.3
Heinen, F.4
Brack, M.5
Nebe, A.6
-
7
-
-
0034059944
-
Frequency of the DYT1 mutation in primary torsion dystonia without family history
-
Brassat D., Camuzat A., Vidailhet M., Feki I., Jedynak P., Klap P., et al. Frequency of the DYT1 mutation in primary torsion dystonia without family history. Arch Neurol 57 (2000) 333-335
-
(2000)
Arch Neurol
, vol.57
, pp. 333-335
-
-
Brassat, D.1
Camuzat, A.2
Vidailhet, M.3
Feki, I.4
Jedynak, P.5
Klap, P.6
-
8
-
-
0035788608
-
DYT1 mutation in primary torsion dystonia in a Serbian population
-
Major T., Svetel M., Romac S., and Kostic V.S. DYT1 mutation in primary torsion dystonia in a Serbian population. J Neurol 248 (2001) 940-943
-
(2001)
J Neurol
, vol.248
, pp. 940-943
-
-
Major, T.1
Svetel, M.2
Romac, S.3
Kostic, V.S.4
-
9
-
-
0035953154
-
DYT1 mutation in Japanese patients with primary torsion dystonia
-
Matsumoto S., Nishimura M., Kaji R., Sakamoto T., Mezaki T., Shimazu H., et al. DYT1 mutation in Japanese patients with primary torsion dystonia. Neuroreport 12 (2001) 793-795
-
(2001)
Neuroreport
, vol.12
, pp. 793-795
-
-
Matsumoto, S.1
Nishimura, M.2
Kaji, R.3
Sakamoto, T.4
Mezaki, T.5
Shimazu, H.6
-
10
-
-
0036523854
-
Frequency of DYT1 mutation in early-onset primary dystonia in Italian patients
-
Zorzi G., Garavaglia B., Invernizzi F., Girotti F., Soliveri P., Zeviani M., et al. Frequency of DYT1 mutation in early-onset primary dystonia in Italian patients. Mov Disord 17 (2002) 407-408
-
(2002)
Mov Disord
, vol.17
, pp. 407-408
-
-
Zorzi, G.1
Garavaglia, B.2
Invernizzi, F.3
Girotti, F.4
Soliveri, P.5
Zeviani, M.6
-
11
-
-
0042922463
-
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia
-
Grundmann K., Laubis-Herrman U., Bauer I., Dressler D., Vollmer-Haase J., Bauer P., et al. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol 60 (2003) 1266-1270
-
(2003)
Arch Neurol
, vol.60
, pp. 1266-1270
-
-
Grundmann, K.1
Laubis-Herrman, U.2
Bauer, I.3
Dressler, D.4
Vollmer-Haase, J.5
Bauer, P.6
-
12
-
-
4644222574
-
DYT1 mutation in Korean primary dystonia patients
-
Im J.H., Ahn T.B., Kim K.B., Ko S.B., and Jeon B.S. DYT1 mutation in Korean primary dystonia patients. Parkinsonism Relat Disord 10 (2004) 421-423
-
(2004)
Parkinsonism Relat Disord
, vol.10
, pp. 421-423
-
-
Im, J.H.1
Ahn, T.B.2
Kim, K.B.3
Ko, S.B.4
Jeon, B.S.5
-
13
-
-
29844432320
-
DYT1 mutation in a cohort of Taiwanese primary dystonias
-
Lin Y.W., Chang H.C., Chou Y.H., Chen R.S., Hsu W.C., Wu W.S., et al. DYT1 mutation in a cohort of Taiwanese primary dystonias. Parkinsonism Relat Disord 12 (2006) 15-19
-
(2006)
Parkinsonism Relat Disord
, vol.12
, pp. 15-19
-
-
Lin, Y.W.1
Chang, H.C.2
Chou, Y.H.3
Chen, R.S.4
Hsu, W.C.5
Wu, W.S.6
-
14
-
-
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., Vieregge P., Jacobs H., Doheny D., 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
Vieregge, P.4
Jacobs, H.5
Doheny, D.6
-
16
-
-
33746294134
-
-
Ministry of Health [homepage on the Internet]. Singapore: Ministry of Health; c2004 [updated 2004 July; cited 2005 Apr 21]. Health Facts Singapore 2004. Available from: http://www.moh.gov.sg/corp/publications/statistics/population.do.
-
-
-
-
17
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16 (1988) 1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
18
-
-
33645210620
-
A 9-year review of dystonia from a movement disorders clinic in Singapore
-
Jamora R.D., Tan A.K., and Tan L.C. A 9-year review of dystonia from a movement disorders clinic in Singapore. Eur J Neurol 13 (2006) 77-81
-
(2006)
Eur J Neurol
, vol.13
, pp. 77-81
-
-
Jamora, R.D.1
Tan, A.K.2
Tan, L.C.3
-
19
-
-
0036237062
-
Inherited and de novo mutations in sporadic cases of DYT1-dystonia
-
Hjermind L.E., Werdelin L.M., and Sørensen S.A. Inherited and de novo mutations in sporadic cases of DYT1-dystonia. Eur J Hum Genet 10 (2002) 213-216
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 213-216
-
-
Hjermind, L.E.1
Werdelin, L.M.2
Sørensen, S.A.3
-
20
-
-
0037356135
-
Focal and segmental primary dystonia in north-western Germany-a clinico-genetic study
-
Maniak K., Sieberer M., Hagenah J., Klein C., and Vieregge P. Focal and segmental primary dystonia in north-western Germany-a clinico-genetic study. Acta Neurol Scand 107 (2003) 228-232
-
(2003)
Acta Neurol Scand
, vol.107
, pp. 228-232
-
-
Maniak, K.1
Sieberer, M.2
Hagenah, J.3
Klein, C.4
Vieregge, P.5
-
21
-
-
0033677544
-
The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp
-
Kamm C., Naumann M., Mueller J., Mai N., Riedel L., Wissel J., et al. The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp. Mov Disord 15 (2000) 1238-1241
-
(2000)
Mov Disord
, vol.15
, pp. 1238-1241
-
-
Kamm, C.1
Naumann, M.2
Mueller, J.3
Mai, N.4
Riedel, L.5
Wissel, J.6
-
22
-
-
24144472996
-
Clinical and genetic evaluation in a French population presenting with primary focal dystonia
-
Dhaenens C.M., Krystkowiak P., Douay X., Charpentier P., Bele S., Destee A., et al. Clinical and genetic evaluation in a French population presenting with primary focal dystonia. Mov Disord 20 (2005) 822-825
-
(2005)
Mov Disord
, vol.20
, pp. 822-825
-
-
Dhaenens, C.M.1
Krystkowiak, P.2
Douay, X.3
Charpentier, P.4
Bele, S.5
Destee, A.6
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