-
1
-
-
0015251021
-
Machado disease. A hereditary ataxiain Portuguese emigrants to Massachussetts
-
NAKANO KK, DAWSON DM. SPENCE A. Machado disease. A hereditary ataxiain Portuguese emigrants to Massachussetts. Neurology 1972;22:49.
-
(1972)
Neurology
, vol.22
, pp. 49
-
-
Nakano, K.K.1
Dawson, D.M.2
Spence, A.3
-
2
-
-
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
-
4
-
-
0017871680
-
Autosomal Dominant system degeneration in Portuguese families of the Azores Islands
-
COUTINHO P, ANDRADE C. Autosomal Dominant system degeneration in Portuguese families of the Azores Islands. Neurology 1978;28:703-9.
-
(1978)
Neurology
, vol.28
, pp. 703-709
-
-
Coutinho, P.1
Andrade, C.2
-
5
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
KAWAGUCHI Y, OKAMOTO T, TANIWAKI M et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994;8:221-8.
-
(1994)
Nature Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
6
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
MACIEL P, GASPAR C, DESTEFANO AL et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet 1995;57:54-61.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 54-61
-
-
Maciel, P.1
Gaspar, C.2
Destefano, A.L.3
-
7
-
-
0029042742
-
Molecular features of the CAG repeats and clinical manifestatin of Machado-Joseph disease
-
MARUYAMA H, NAKAMURA S, MATSUYAMA Z et al. Molecular features of the CAG repeats and clinical manifestatin of Machado-Joseph disease. Hum Mol Genet 1995;4:807-12.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 807-812
-
-
Maruyama, H.1
Nakamura, S.2
Matsuyama, Z.3
-
8
-
-
0027356605
-
Epidemiology clinical aspects of Machado-Joseph disease
-
Harding A, Deufel T, Chamberlain S, eds. New York: Raven Press
-
SEQUEIROS J, COUTINHO P. Epidemiology and clinical aspects of Machado-Joseph disease. In: HARDING A. DEUFEL T, CHAMBERLAIN S, eds. Hereditary ataxias. Advance neurology, Vol. 61. New York: Raven Press, 1993;139-53.
-
(1993)
Hereditary Ataxias. Advance Neurology
, vol.61
, pp. 139-153
-
-
Sequeiros, J.1
Coutinho, P.2
-
9
-
-
0034856128
-
Machado-Joseph disease in South Brazil: Clinical and molecular characterization of kindreds
-
JARDIM LB, PEREIRA ML, SILVEIRA I, FERRO A, SEQUEIROS J, GIUGLIANI R. Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds. Acta Neurol Scand 2001;104:224-31.
-
(2001)
Acta Neurol Scand
, vol.104
, pp. 224-231
-
-
Jardim, L.B.1
Pereira, M.L.2
Silveira, I.3
Ferro, A.4
Sequeiros, J.5
Giugliani, R.6
-
10
-
-
0029690663
-
Machado-Joseph disease and SCA3: The genotype meets the phenotypes
-
JUNCK L, FINK JK. Machado-Joseph disease and SCA3: the genotype meets the phenotypes. Neurology 1996;46:4-8.
-
(1996)
Neurology
, vol.46
, pp. 4-8
-
-
Junck, L.1
Fink, J.K.2
-
11
-
-
0034971210
-
Neurological findings in Machado-Joseph disease: Their relation with disease duration, clinical types and CAG repeat lengths
-
JARDIM LB, PEREIRA ML, SILVEIRA I, FERRO A, SEQUEIROS J, GIUGLIANI R. Neurological findings in Machado-Joseph disease: their relation with disease duration, clinical types and CAG repeat lengths. Arch Neurol 2001;58:899-904.
-
(2001)
Arch Neurol
, vol.58
, pp. 899-904
-
-
Jardim, L.B.1
Pereira, M.L.2
Silveira, I.3
Ferro, A.4
Sequeiros, J.5
Giugliani, R.6
-
12
-
-
0029009456
-
Evidence for intergenerational instability in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
-
TAKIYAMA Y, IGARASHI S, ROGAEVA EA et al. Evidence for intergenerational instability in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Molec Genet 1995;4:1137-46.
-
(1995)
Hum Molec Genet
, vol.4
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
-
13
-
-
0028859878
-
Autosomal dominant cerebellar phenotypes: The genotype has settled the issue
-
ROSENBERG RN. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 1995;45:1-5.
-
(1995)
Neurology
, vol.45
, pp. 1-5
-
-
Rosenberg, R.N.1
-
14
-
-
0345384439
-
The fatal attraction of polyglutamine-containing proteins
-
HACKAM AS, WELLINGTON CL, E HAYDEN MR. The fatal attraction of polyglutamine-containing proteins. Clin Genet 1998;54 (Suppl. 1):23-32.
-
(1998)
Clin Genet
, vol.54
, Issue.SUPPL. 1
, pp. 23-32
-
-
Hackam, A.S.1
Wellington, C.L.2
Hayden, M.R.3
-
15
-
-
0031761706
-
Protein precipitation: A common etiology in neurodegenerative disorders?
-
KAKIZUKA A. Protein precipitation: a common etiology in neurodegenerative disorders? Trends Genet 1998;14:396-402.
-
(1998)
Trends Genet
, vol.14
, pp. 396-402
-
-
Kakizuka, A.1
-
16
-
-
0032491408
-
Genetic classification of primary neurodegenerative disease
-
HARDY J, GWINN-HARDY K. Genetic classification of primary neurodegenerative disease. Science 1998;282:1075-8.
-
(1998)
Science
, vol.282
, pp. 1075-1078
-
-
Hardy, J.1
Gwinn-Hardy, K.2
-
17
-
-
0027164698
-
Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type I
-
ORR HT, CHUNG M, BANFI S et al. Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type I. Nature Genet 1993;4:221-6.
-
(1993)
Nature Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.2
Banfi, S.3
-
18
-
-
0028216760
-
Unstable expression of CAG repeat in hereditary dentatorubralpallidoluysian atrophy (DRPLA)
-
KOIDE R, IKEUCHI T, ONODERA O et al. Unstable expression of CAG repeat in hereditary dentatorubralpallidoluysian atrophy (DRPLA). Nature Genet 1994;6:9-13.
-
(1994)
Nature Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
-
19
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
PULST S-M, NECHIPORUK A, NECHIPORUK T et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-76.
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.-M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
20
-
-
16944364511
-
Cloning the SCA7 gene reveals a highly unstable CAG repeat expansion
-
DAVID G, ABBAS N, STEVANIN G et al. Cloning the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 1997;17:65-70.
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
-
22
-
-
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 [Letter] 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
-
23
-
-
0029401042
-
Glutamine repeats as polar zippers: Their role in inherited neurodegenerative disease
-
PERUTZ MF. Glutamine repeats as polar zippers: their role in inherited neurodegenerative disease. Mol Med 1995;1:718-21.
-
(1995)
Mol Med
, vol.1
, pp. 718-721
-
-
Perutz, M.F.1
-
24
-
-
0033867386
-
CAG repeat length in RA11 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
-
HAYES S, TURECKI G, BRISEBOIS K et al. CAG repeat length in RA11 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). Human Mol Genet 2000;9:1753-8.
-
(2000)
Human Mol Genet
, vol.9
, pp. 1753-1758
-
-
Hayes, S.1
Turecki, G.2
Brisebois, K.3
-
25
-
-
0035852687
-
The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin. Neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis
-
13 February
-
HOLBERT S, DENGHIEN I, KIECHLE T et al. The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin. Neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis. Proc Natl Acad Sci USA;98:1811-6 (13 February 2001).
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 1811-1816
-
-
Holbert, S.1
Denghien, I.2
Kiechle, T.3
-
27
-
-
0032574472
-
Molecular genetic studies in spinocerebellar ataxias: Analysis of SCA1, DRPLA and MJD mutations in patients from 48 Portuguese ataxia families
-
SILVEIRA I, COUTINHO P, MACIEL P et al. Molecular genetic studies in spinocerebellar ataxias: analysis of SCA1, DRPLA and MJD mutations in patients from 48 Portuguese ataxia families. Am J Med Genet (Neuropsychiat Genet) 1998;81:134-8.
-
(1998)
Am J Med Genet (Neuropsychiat Genet)
, vol.81
, pp. 134-138
-
-
Silveira, I.1
Coutinho, P.2
Maciel, P.3
-
28
-
-
0030944114
-
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
-
GESCHWIND DH, PERLMAN S, FIGUEROA CP, TREIMAN LJ, PULST S. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997;60:842-50.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 842-850
-
-
Geschwind, D.H.1
Perlman, S.2
Figueroa, C.P.3
Treiman, L.J.4
Pulst, S.5
-
29
-
-
0032905755
-
Evidence that allelic variants of the spinocerebellar ataxia type 2 gene influence susceptibility to multiple sclerosis
-
CHATAWAY J, SAWCER S, CORADDU F et al. Evidence that allelic variants of the spinocerebellar ataxia type 2 gene influence susceptibility to multiple sclerosis. Neurogenetics April 1999;2:91-6.
-
(1999)
Neurogenetics April
, vol.2
, pp. 91-96
-
-
Chataway, J.1
Sawcer, S.2
Coraddu, F.3
|