-
1
-
-
0040920369
-
-
Online Mendelian Inheritance in Man. National Library of Medicine website: http://www.ncbi.nlm.nih.gov/omim/. Accessed 2 Dec 2003.
-
Online Mendelian Inheritance in Man
-
-
-
2
-
-
0037066111
-
Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis
-
van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 2002;58:702-8.
-
(2002)
Neurology
, vol.58
, pp. 702-708
-
-
Van De Warrenburg, B.P.1
Sinke, R.J.2
Verschuuren-Bemelmans, C.C.3
-
3
-
-
0034832938
-
Ataxia and hereditary disorders
-
Paulson H, Ammache Z. Ataxia and hereditary disorders. Neurol Clin 2001;19:759-82.
-
(2001)
Neurol Clin
, vol.19
, pp. 759-782
-
-
Paulson, H.1
Ammache, Z.2
-
5
-
-
0031782911
-
Simple nonisotopic assays for detection of (CAG)n repeats expansions associated with seven neurodegenerative disorders
-
Vuillaume I, Schraen S, Rousseaux J, Sablonniere B. Simple nonisotopic assays for detection of (CAG)n repeats expansions associated with seven neurodegenerative disorders. Diagn Mol Pathol 1998;7:174-9.
-
(1998)
Diagn Mol Pathol
, vol.7
, pp. 174-179
-
-
Vuillaume, I.1
Schraen, S.2
Rousseaux, J.3
Sablonniere, B.4
-
6
-
-
0031714729
-
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
-
Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 1998;51:1081-6.
-
(1998)
Neurology
, vol.51
, pp. 1081-1086
-
-
Benton, C.S.1
De Silva, R.2
Rutledge, S.L.3
Bohlega, S.4
Ashizawa, T.5
Zoghbi, H.Y.6
-
7
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999;21:379-84.
-
(1999)
Nat Genet
, vol.21
, pp. 379-384
-
-
Koob, M.D.1
Moseley, M.L.2
Schut, L.J.3
-
8
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12
-
Holmes SE, O'Hearn EE, McInnis MG, et al. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet 1999;23:391-2.
-
(1999)
Nat Genet
, vol.23
, pp. 391-392
-
-
Holmes, S.E.1
O'Hearn, E.E.2
McInnis, M.G.3
-
9
-
-
0029947377
-
Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR
-
Maruyama H, Kawakami H, Nakamura S. Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR. Hum Genet 1996;97:591-5.
-
(1996)
Hum Genet
, vol.97
, pp. 591-595
-
-
Maruyama, H.1
Kawakami, H.2
Nakamura, S.3
-
10
-
-
0029959667
-
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3
-
Burk 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;119:1497-505.
-
(1996)
Brain
, vol.119
, pp. 1497-1505
-
-
Burk, K.1
Abele, M.2
Fetter, M.3
-
12
-
-
0034093161
-
Frequency of SCA 1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
-
Tang B, Liu C, Shen L, et al. Frequency of SCA 1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol 2000;57:540-4.
-
(2000)
Arch Neurol
, vol.57
, pp. 540-544
-
-
Tang, B.1
Liu, C.2
Shen, L.3
-
13
-
-
0033763652
-
Spinocerebellar ataxia in Singapore: Predictive features of a positive DNA test?
-
Tan EK, Law HY, Zhao Y, et al. Spinocerebellar ataxia in Singapore: predictive features of a positive DNA test? Eur Neurol 2000;44:168-71.
-
(2000)
Eur Neurol
, vol.44
, pp. 168-171
-
-
Tan, E.K.1
Law, H.Y.2
Zhao, Y.3
-
14
-
-
0030936978
-
Machado-Joseph disease: Clinical, molecular, and metabolic characterization in Chinese kindreds
-
Soong B, Cheng C, Liu R, Shan D. Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds. Ann Neurol 1997;41:446-52.
-
(1997)
Ann Neurol
, vol.41
, pp. 446-452
-
-
Soong, B.1
Cheng, C.2
Liu, R.3
Shan, D.4
-
15
-
-
0035010910
-
A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan
-
Mori M, Adachi Y, Kusumi M, Nakashima K. A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan. Neuroepidemiology 2001;20:144-9.
-
(2001)
Neuroepidemiology
, vol.20
, pp. 144-149
-
-
Mori, M.1
Adachi, Y.2
Kusumi, M.3
Nakashima, K.4
-
16
-
-
0036953712
-
Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore
-
Zhao Y, Tan EK, Law HY, Yoon CS, Wong MC, Ng I. Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore. Clin Genet 2002;62:478-81.
-
(2002)
Clin Genet
, vol.62
, pp. 478-481
-
-
Zhao, Y.1
Tan, E.K.2
Law, H.Y.3
Yoon, C.S.4
Wong, M.C.5
Ng, I.6
-
17
-
-
0015412724
-
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity
-
Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity. J Neurol Sci 1972;17:149-66.
-
(1972)
J Neurol Sci
, vol.17
, pp. 149-166
-
-
Woods, B.T.1
Schaumburg, H.H.2
-
18
-
-
0015251021
-
Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts
-
Nakano KK, Dawson DM, Spence A. Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972;22:49-55.
-
(1972)
Neurology
, vol.22
, pp. 49-55
-
-
Nakano, K.K.1
Dawson, D.M.2
Spence, A.3
-
19
-
-
0017117382
-
Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder
-
Rosenberg RN, Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 1976;26:703-14.
-
(1976)
Neurology
, vol.26
, pp. 703-714
-
-
Rosenberg, R.N.1
Nyhan, W.L.2
Bay, C.3
Shore, P.4
-
20
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama Y, Nishizawa M, Tanaka H, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 1993;4:300-4.
-
(1993)
Nat Genet
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
-
21
-
-
0028291077
-
Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds
-
Sequeiros J, Silveira I, Maciel P, et al. Genetic linkage studies of Machado-Joseph disease with chromosome 14q STRPs in 16 Portuguese-Azorean kindreds. Genomics 1994;21:645-8.
-
(1994)
Genomics
, vol.21
, pp. 645-648
-
-
Sequeiros, J.1
Silveira, I.2
Maciel, P.3
-
22
-
-
0028890672
-
Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families
-
Sasaki H, Wakisaka A, Takada A, et al. Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. Am J Hum Genet 1995;56:231-42.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 231-242
-
-
Sasaki, H.1
Wakisaka, A.2
Takada, A.3
-
23
-
-
0038352231
-
Kennedy's disease
-
Au KM, Lau KK, Chan AY, Sheng B, Li HL. Kennedy's disease. Hong Kong Med J 2003;9:217-20.
-
(2003)
Hong Kong Med J
, vol.9
, pp. 217-220
-
-
Au, K.M.1
Lau, K.K.2
Chan, A.Y.3
Sheng, B.4
Li, H.L.5
-
24
-
-
0346099507
-
Autosomal dominant spinocerebellar ataxias: An Asian perspective
-
Tan EK. Autosomal dominant spinocerebellar ataxias: an Asian perspective. Can J Neurolg Sci 2003;30:361-7.
-
(2003)
Can J Neurolg Sci
, vol.30
, pp. 361-367
-
-
Tan, E.K.1
-
25
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
-
Durr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996;39:490-9.
-
(1996)
Ann Neurol
, vol.39
, pp. 490-499
-
-
Durr, A.1
Stevanin, G.2
Cancel, G.3
-
26
-
-
0029084672
-
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease
-
Stevanin G, Cassa E, Cancel G, et al. Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease. J Med Genet 1995;32:827-30.
-
(1995)
J Med Genet
, vol.32
, pp. 827-830
-
-
Stevanin, G.1
Cassa, E.2
Cancel, G.3
-
27
-
-
0025301920
-
Should we test children for "adult" genetic diseases?
-
Harper PS, Clarke A. Should we test children for "adult" genetic diseases? Lancet 1990;335:1205-6.
-
(1990)
Lancet
, vol.335
, pp. 1205-1206
-
-
Harper, P.S.1
Clarke, A.2
-
28
-
-
0031035516
-
Machado-Joseph disease in four Chinese pedigrees: Molecular analysis of 15 patients including two juvenile cases and clinical correlations
-
Zhou YX, Takiyama Y, Igarashi S, et al. Machado-Joseph disease in four Chinese pedigrees: molecular analysis of 15 patients including two juvenile cases and clinical correlations. Neurology 1997;48:482-5.
-
(1997)
Neurology
, vol.48
, pp. 482-485
-
-
Zhou, Y.X.1
Takiyama, Y.2
Igarashi, S.3
-
29
-
-
0035288539
-
The impact of molecular biology on clinical neurology
-
Mak W, Ho SL. The impact of molecular biology on clinical neurology. Hong Kong Med J 2001;7:40-9.
-
(2001)
Hong Kong Med J
, vol.7
, pp. 40-49
-
-
Mak, W.1
Ho, S.L.2
-
30
-
-
0037677603
-
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
-
Chung MY, Lu YC, Cheng NC, Soong BW. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain 2003;126:1293-9.
-
(2003)
Brain
, vol.126
, pp. 1293-1299
-
-
Chung, M.Y.1
Lu, Y.C.2
Cheng, N.C.3
Soong, B.W.4
|