-
1
-
-
0031604087
-
Inherited myoclonus-dystonia syndrome
-
Gasser T. Inherited myoclonus-dystonia syndrome. Adv Neurol 1998;78:325-334.
-
(1998)
Adv Neurol
, vol.78
, pp. 325-334
-
-
Gasser, T.1
-
2
-
-
0023763764
-
Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: An area of confusion
-
Quinn NP, Rothwell JC, Thompson PD, Marsden CD. Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. Adv Neurol 1988;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
-
3
-
-
17944378309
-
Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
-
Zimprich A, Grabowski M, Asmus F, et al. Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001;29:66-69.
-
(2001)
Nat Genet
, vol.29
, pp. 66-69
-
-
Zimprich, A.1
Grabowski, M.2
Asmus, F.3
-
5
-
-
0037159230
-
A novel locus for inherited myoclonus-dystonia on 18p11
-
Grimes DA, Han F, Lang AE, St George-Hyslop P, Racacho L, Bulman DE. A novel locus for inherited myoclonus-dystonia on 18p11. Neurology 2002;59:1183-1186.
-
(2002)
Neurology
, vol.59
, pp. 1183-1186
-
-
Grimes, D.A.1
Han, F.2
Lang, A.E.3
St. George-Hyslop, P.4
Racacho, L.5
Bulman, D.E.6
-
6
-
-
0035241272
-
Inherited myoclonus-dystonia: Evidence supporting genetic heterogeneity
-
Grimes DA, Bulman D, St George-Hyslop P, Lang AE. Inherited myoclonus-dystonia: evidence supporting genetic heterogeneity. Mov Disord 2001;16:106-110.
-
(2001)
Mov Disord
, vol.16
, pp. 106-110
-
-
Grimes, D.A.1
Bulman, D.2
St. George-Hyslop, P.3
Lang, A.E.4
-
7
-
-
4243978485
-
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia
-
Klein C, Brin MF, Kramer P, et al. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci USA 1999;96:5173-5176.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 5173-5176
-
-
Klein, C.1
Brin, M.F.2
Kramer, P.3
-
8
-
-
18044403431
-
Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
-
Leung JC, 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 2001;3:133-143.
-
(2001)
Neurogenetics
, vol.3
, pp. 133-143
-
-
Leung, J.C.1
Klein, C.2
Friedman, J.3
-
9
-
-
0037159102
-
Phenotypic features of myoclonus-dystonia in three kindreds
-
Doheny DO, Brin MF, Morrison CE, et al. Phenotypic features of myoclonus-dystonia in three kindreds. Neurology 2002;59:1187-1196.
-
(2002)
Neurology
, vol.59
, pp. 1187-1196
-
-
Doheny, D.O.1
Brin, M.F.2
Morrison, C.E.3
-
10
-
-
0037159182
-
Clinical findings of a myoclonus-dystonia family with two distinct mutations
-
Doheny DO, Danisi F, Smith C, et al. Clinical findings of a myoclonus-dystonia family with two distinct mutations. Neurology 2002;59:1244-1246.
-
(2002)
Neurology
, vol.59
, pp. 1244-1246
-
-
Doheny, D.O.1
Danisi, F.2
Smith, C.3
-
11
-
-
0037154246
-
Myoclonus dystonia: Possible association with obsessive-compulsive disorder and alcohol dependence
-
Saunders-Pullman R, Shriberg J, Heiman G, et al. Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Neurology 2002;58:242-245.
-
(2002)
Neurology
, vol.58
, pp. 242-245
-
-
Saunders-Pullman, R.1
Shriberg, J.2
Heiman, G.3
-
12
-
-
0034010735
-
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia
-
Klein C, Gurvich N, Sena-Esteves M, et al. Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Ann Neurol 2000;47:369-373.
-
(2000)
Ann Neurol
, vol.47
, pp. 369-373
-
-
Klein, C.1
Gurvich, N.2
Sena-Esteves, M.3
-
13
-
-
0000614554
-
Molecular studies of childhood onset primary dystonias in Italy
-
Garavaglia B, Invernizzi F, Nardocci N, Zorzi G, Girotti F, Zeviani M. Molecular studies of childhood onset primary dystonias in Italy. Am J Hum Genet 2000;67(suppl 2):375.
-
(2000)
Am J Hum Genet
, vol.67
, Issue.SUPPL. 2
, pp. 375
-
-
Garavaglia, B.1
Invernizzi, F.2
Nardocci, N.3
Zorzi, G.4
Girotti, F.5
Zeviani, M.6
-
16
-
-
0032731974
-
Dopa-responsive dystonia: Recent advances and remaining issues to be addressed
-
Furukawa Y, Kish SJ. Dopa-responsive dystonia: recent advances and remaining issues to be addressed. Mov Disord 1999;14:709-715.
-
(1999)
Mov Disord
, vol.14
, pp. 709-715
-
-
Furukawa, Y.1
Kish, S.J.2
-
17
-
-
0037172668
-
Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14
-
Grötzsch H, Pizzolato G-P, Ghika J, et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14. Neurology 2002;58:1839-1842.
-
(2002)
Neurology
, vol.58
, pp. 1839-1842
-
-
Grötzsch, H.1
Pizzolato, G.-P.2
Ghika, J.3
-
18
-
-
0037159199
-
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
-
Leuzzi V, Carducci Ca, Carducci CI, Cardona F, Artiola C, Antonozzi I. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology 2002;59:1241-1243.
-
(2002)
Neurology
, vol.59
, pp. 1241-1243
-
-
Leuzzi, V.1
Carducci, C.A.2
Carducci, C.I.3
Cardona, F.4
Artiola, C.5
Antonozzi, I.6
-
19
-
-
18744432269
-
Doparesponsive dystonia due to a large deletion in the GTP cyclohydrolase I gene
-
Furukawa Y, Guttman M, Sparagana SP, et al. Doparesponsive dystonia due to a large deletion in the GTP cyclohydrolase I gene. Ann Neurol 2000;47:517-520.
-
(2000)
Ann Neurol
, vol.47
, pp. 517-520
-
-
Furukawa, Y.1
Guttman, M.2
Sparagana, S.P.3
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