-
1
-
-
25844487226
-
Diseases of unstable repeat expansion: Mechanisms and common principles
-
Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: Mechanisms and common principles. Nat Rev Genet 2005: 6 (10): 743-755.
-
(2005)
Nat Rev Genet
, vol.6
, Issue.10
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
2
-
-
0026517253
-
Age at onset and life table risks in genetic counselling for Huntington's disease
-
Harper PS, Newcombe RG. Age at onset and life table risks in genetic counselling for Huntington's disease. J Med Genet 1992: 29 (4): 239-242.
-
(1992)
J Med Genet
, vol.29
, Issue.4
, pp. 239-242
-
-
Harper, P.S.1
Newcombe, R.G.2
-
3
-
-
2642679877
-
Machado-Joseph disease: Epidemiology, genetics and genetic epidemiology
-
In: Lechtenberg R, (ed.). New York, NY: Dekker
-
Sequeiros J Machado-Joseph disease: Epidemiology, genetics and genetic epidemiology. In: Lechtenberg R, (ed.). Handbook of cerebellar diseases. New York, NY: Dekker, 1993: 345-351.
-
(1993)
Handbook of Cerebellar Diseases
, pp. 345-351
-
-
Sequeiros, J.1
-
4
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Saudou F, Yvert G et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet 1996: 14: 285-291.
-
(1996)
Nature Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
-
5
-
-
0024997225
-
Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba
-
Orozco G, Nodarse FA, Auburger G. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba. Neurology 1990: 40: 1369-1375.
-
(1990)
Neurology
, vol.40
, pp. 1369-1375
-
-
Orozco, G.1
Nodarse, F.A.2
Auburger, G.3
-
6
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 1996: 14: 269-276.
-
(1996)
Nature Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
7
-
-
0029959667
-
Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA3
-
Bürk K, Abele M, Fetter M et al. Autosomal dominant cerebellar ataxia type I Clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996: 119: 1497-1505.
-
(1996)
Brain
, vol.119
, pp. 1497-1505
-
-
Bürk, K.1
Abele, M.2
Fetter, M.3
-
8
-
-
0034093161
-
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7 and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
-
Tang B, Liu Ch, Shen L et al. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7 and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol 2000: 57: 540-544.
-
(2000)
Arch Neurol
, vol.57
, pp. 540-544
-
-
Tang, B.1
Liu, Ch.2
Shen, L.3
-
9
-
-
0038796980
-
Frequency analysis and clinical characterization of spinocerebellar ataxia type 1, 2, 3, 6 and 7 in Korean patients
-
Lee WY, Jin DK, Oh MR et al. Frequency analysis and clinical characterization of spinocerebellar ataxia type 1, 2, 3, 6 and 7 in Korean patients. Arch Neurol 2003: 60: 858-863.
-
(2003)
Arch Neurol
, vol.60
, pp. 858-863
-
-
Lee, W.Y.1
Jin, D.K.2
Oh, M.R.3
-
10
-
-
0035885848
-
A clinical study of patients with genetically confirmed Huntington's disease from India
-
Murqod UA, Saleem Q, Anand A, Brahmachari SK, Jain S, Muthane UB. A clinical study of patients with genetically confirmed Huntington's disease from India. J Neurol Sci 2001: 190 (1-2): 73-78.
-
(2001)
J Neurol Sci
, vol.190
, Issue.1-2
, pp. 73-78
-
-
Murqod, U.A.1
Saleem, Q.2
Anand, A.3
Brahmachari, S.K.4
Jain, S.5
Muthane, U.B.6
-
11
-
-
0034847765
-
Juvenile onset Huntington's disease-clinical and research perspectives
-
Nance MA, Myers RH. Juvenile onset Huntington's disease-clinical and research perspectives. Ment Retard Dev Disabil Res Rev 2001: 7 (3): 153-157.
-
(2001)
Ment Retard Dev Disabil Res Rev
, vol.7
, Issue.3
, pp. 153-157
-
-
Nance, M.A.1
Myers, R.H.2
-
13
-
-
0029391198
-
Gender equality in Machado-Joseph disease
-
DeStefano AL, Farrer LA, Maciel P et al. Gender equality in Machado-Joseph disease. Nat Genet 1995: 11: 118-119.
-
(1995)
Nat Genet
, vol.11
, pp. 118-119
-
-
DeStefano, A.L.1
Farrer, L.A.2
Maciel, P.3
-
14
-
-
0000560196
-
Epidemiología de la ataxia hereditaria cubana
-
Velázquez PL, Santos FN, García R, Paneque HM, Hechavarría PR. Epidemiología de la ataxia hereditaria cubana. Rev Neurol 2001: 32 (7): 606-611.
-
(2001)
Rev Neurol
, vol.32
, Issue.7
, pp. 606-611
-
-
Velázquez, P.L.1
Santos, F.N.2
García, R.3
Paneque, H.M.4
Hechavarría, P.R.5
-
15
-
-
33644662159
-
Aggregation and toxicity of the proteins with polyQ repeats
-
Leznicki P Aggregation and toxicity of the proteins with polyQ repeats. Postepy Biochem 2005: 51 (2): 215-222.
-
(2005)
Postepy Biochem
, vol.51
, Issue.2
, pp. 215-222
-
-
Leznicki, P.1
-
16
-
-
0035976953
-
The role of protein composition in specifying nuclear inclusion formation in polyglutamine diseases
-
Chai Y, Wu L, Griffin JD, Paulson HL. The role of protein composition in specifying nuclear inclusion formation in polyglutamine diseases. J Biol Chem 2001: 276 (48): 44889-44897.
-
(2001)
J Biol Chem
, vol.276
, Issue.48
, pp. 44889-44897
-
-
Chai, Y.1
Wu, L.2
Griffin, J.D.3
Paulson, H.L.4
-
17
-
-
0035968933
-
Amino acid sequences flanking polyglutamine stretches influence their potential for aggregate formation
-
Nozaki K, Onodera O, Takano H, Tsuji S. Amino acid sequences flanking polyglutamine stretches influence their potential for aggregate formation. Neuroreport 2001: 12 (15): 3357-3364.
-
(2001)
Neuroreport
, vol.12
, Issue.15
, pp. 3357-3364
-
-
Nozaki, K.1
Onodera, O.2
Takano, H.3
Tsuji, S.4
|