-
1
-
-
8144228406
-
Trinucleotide repeats and neurodegenerative disease
-
Everett C.M., and Wood N.W. Trinucleotide repeats and neurodegenerative disease. Brain 127 (2004) 2385-2405
-
(2004)
Brain
, vol.127
, pp. 2385-2405
-
-
Everett, C.M.1
Wood, N.W.2
-
2
-
-
0032885515
-
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?
-
Koide R., Kobayashi S., Shimohata T., Ikeuchi T., Maruyama M., Saito M., et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?. Human Mol Genet 8 (1999) 2047-2053
-
(1999)
Human Mol Genet
, vol.8
, pp. 2047-2053
-
-
Koide, R.1
Kobayashi, S.2
Shimohata, T.3
Ikeuchi, T.4
Maruyama, M.5
Saito, M.6
-
3
-
-
0035076389
-
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
-
Zuhlke C., Hellenbroich Y., Dalski A., Kononowa N., Hagenah J., Vieregge P., et al. Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Human Genet 9 (2001) 160-164
-
(2001)
Eur J Human Genet
, vol.9
, pp. 160-164
-
-
Zuhlke, C.1
Hellenbroich, Y.2
Dalski, A.3
Kononowa, N.4
Hagenah, J.5
Vieregge, P.6
-
4
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K., Jeong S.Y., Uchihara T., Anno M., Nagashima K., Nagashima T., et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Human Mol Genet 10 (2001) 1441-1448
-
(2001)
Human Mol Genet
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.Y.2
Uchihara, T.3
Anno, M.4
Nagashima, K.5
Nagashima, T.6
-
5
-
-
0034783914
-
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia
-
Fujigasaki H., Martin J.J., De Deyn P.P., Camuzat A., Deffond D., Stevanin G., et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain 124 (2001) 1939-1947
-
(2001)
Brain
, vol.124
, pp. 1939-1947
-
-
Fujigasaki, H.1
Martin, J.J.2
De Deyn, P.P.3
Camuzat, A.4
Deffond, D.5
Stevanin, G.6
-
6
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
Rolfs A., Koeppen A.H., Bauer I., Bauer P., Buhlmann S., Topka H., et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 54 (2003) 367-375
-
(2003)
Ann Neurol
, vol.54
, pp. 367-375
-
-
Rolfs, A.1
Koeppen, A.H.2
Bauer, I.3
Bauer, P.4
Buhlmann, S.5
Topka, H.6
-
7
-
-
0035353759
-
Pontine MRI hyperintensities ("the cross sign") are not pathognomonic for multiple system atrophy (MSA)
-
Burk K., Skalej M., and Dichgans J. Pontine MRI hyperintensities ("the cross sign") are not pathognomonic for multiple system atrophy (MSA). Mov Disord 16 (2001) 535
-
(2001)
Mov Disord
, vol.16
, pp. 535
-
-
Burk, K.1
Skalej, M.2
Dichgans, J.3
-
8
-
-
10744231577
-
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease
-
Wu Y.R., Lin H.Y., Chen C.M., Gwinn-Hardy K., Ro L.S., Wang Y.C., et al. Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. Clin Genet 65 (2004) 209-214
-
(2004)
Clin Genet
, vol.65
, pp. 209-214
-
-
Wu, Y.R.1
Lin, H.Y.2
Chen, C.M.3
Gwinn-Hardy, K.4
Ro, L.S.5
Wang, Y.C.6
-
9
-
-
0037321835
-
Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?
-
Zuhlke C., Gehlken U., Hellenbroich Y., Schwinger E., and Burk K. Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?. J Neurol 250 (2003) 161-163
-
(2003)
J Neurol
, vol.250
, pp. 161-163
-
-
Zuhlke, C.1
Gehlken, U.2
Hellenbroich, Y.3
Schwinger, E.4
Burk, K.5
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