-
1
-
-
0027356605
-
Epidemiology and clinical aspects of Machado-Joseph disease
-
A.E. Harding, & T. Deufel. New York: Raven Press
-
Sequeiros J., Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Harding A.E., Deufel T. Advances in neurology. 1993;139-153 Raven Press, New York.
-
(1993)
Advances in neurology
, pp. 139-153
-
-
Sequeiros, J.1
Coutinho, P.2
-
2
-
-
0029991809
-
Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA 3 is allelic to Machado-Joseph disease
-
Higgins J.J., Nee L.E., Vasconcelos O., Ide S.E., Lavedan C., Goldfarb L.G.et al. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA 3 is allelic to Machado-Joseph disease. Neurology. 46:1996;208-213.
-
(1996)
Neurology
, vol.46
, pp. 208-213
-
-
Higgins, J.J.1
Nee, L.E.2
Vasconcelos, O.3
Ide, S.E.4
Lavedan, C.5
Goldfarb, L.G.6
-
3
-
-
0035109739
-
Genetic testing in spinocerebellar ataxia: Defining a clinical role
-
Tan E.K., Ashizawa T. Genetic testing in spinocerebellar ataxia: defining a clinical role. Arch. Neurol. 58:2001;191-195.
-
(2001)
Arch. Neurol.
, vol.58
, pp. 191-195
-
-
Tan, E.K.1
Ashizawa, T.2
-
4
-
-
0029090063
-
Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion
-
Tuite P.J., Rogaeva E.A., St George-Hyslop P.H., Lang A.E. Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Ann. Neurol. 38:1995;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
-
5
-
-
0035118860
-
Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family
-
Gwinn-Hardy K., Singleton A., O'Suilleabhain P., Boss M., Nicholl D., Adam A.et al. Spinocerebellar ataxia type 3 phenotypically resembling Parkinson disease in a black family. Arch. Neurol. 58:2001;296-299.
-
(2001)
Arch. Neurol.
, vol.58
, pp. 296-299
-
-
Gwinn-Hardy, K.1
Singleton, A.2
O'Suilleabhain, P.3
Boss, M.4
Nicholl, D.5
Adam, A.6
-
6
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y., Okamoto T., Taniwaki M., Aizawa M., Inoue M., Katayama S.et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8:1994;221-228.
-
(1994)
Nat. Genet.
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
-
7
-
-
0030898773
-
Oral phenylalanine loading in dopa-responsive dystonia: A possible diagnostic test
-
Kyland K., Fryburg J.S., Wilson W.G., Bebin E.M., Arnold L.A., Gunasekera R.S.et al. Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test. Neurology. 48:1997;1290-1297.
-
(1997)
Neurology
, vol.48
, pp. 1290-1297
-
-
Kyland, K.1
Fryburg, J.S.2
Wilson, W.G.3
Bebin, E.M.4
Arnold, L.A.5
Gunasekera, R.S.6
-
8
-
-
0026437419
-
Long-term treatment response and flurodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia
-
Nygaard T.G., Takahashi H., Heiman G.A., Snow B.J., Fahn S., Calne D.B. Long-term treatment response and flurodopa positron emission tomographic scanning of parkinsonism in a family with dopa-responsive dystonia. Ann. Neurol. 32:1992;603-608.
-
(1992)
Ann. Neurol.
, vol.32
, pp. 603-608
-
-
Nygaard, T.G.1
Takahashi, H.2
Heiman, G.A.3
Snow, B.J.4
Fahn, S.5
Calne, D.B.6
-
9
-
-
0342369398
-
Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?
-
Tassin J., Durr A., Bonnet A.M., Gil R., Vidailhet M., Lucking C.B.et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? Brain. 123:2000;1112-1121.
-
(2000)
Brain
, vol.123
, pp. 1112-1121
-
-
Tassin, J.1
Durr, A.2
Bonnet, A.M.3
Gil, R.4
Vidailhet, M.5
Lucking, C.B.6
-
10
-
-
2642589007
-
Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
-
Schols L., Amoiridis G., Buttner T., Przuntek H., Epplen J.T., Riess O. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann. Neurol. 42:1997;924-932.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 924-932
-
-
Schols, L.1
Amoiridis, G.2
Buttner, T.3
Przuntek, H.4
Epplen, J.T.5
Riess, O.6
-
11
-
-
0030766077
-
Machado-Joseph disease: Cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene
-
Takiyama Y., Sakoe K., Nakano I., Nishizawa M. Machado-Joseph disease: cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene. Neurology. 49:1997;604-606.
-
(1997)
Neurology
, vol.49
, pp. 604-606
-
-
Takiyama, Y.1
Sakoe, K.2
Nakano, I.3
Nishizawa, M.4
-
12
-
-
0034718577
-
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese
-
Gwinn-Hardy K., Chen J.Y., Liu H.C., Liu T.Y., Boss M., Seltzer W.et al. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology. 55:2000;800-805.
-
(2000)
Neurology
, vol.55
, pp. 800-805
-
-
Gwinn-Hardy, K.1
Chen, J.Y.2
Liu, H.C.3
Liu, T.Y.4
Boss, M.5
Seltzer, W.6
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