-
1
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
2
-
-
0015251021
-
Machado disease - A hereditary ataxia in Portuguese emigrants to Massachusetts
-
Nakano KK, Dawson DM, Spence A. Machado disease - a he- reditary ataxia in Portuguese emigrants to Massachusetts. Neu- rology 1972;22:49-55
-
(1972)
Neurology
, vol.22
, pp. 49-55
-
-
Nakano, K.K.1
Dawson, D.M.2
Spence, A.3
-
3
-
-
0015412724
-
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: A unique and partially treatable clinico-pathological entity
-
Woods BT, Schaumburg HH. Nigro-spino-dentatal degenera- tion with nuclear ophthalmoplegia: a unique and partially treat- able clinico-pathological entity. J Neurol Sci 1972;17:149-166
-
(1972)
J Neurol Sci
, vol.17
, pp. 149-166
-
-
Woods, B.T.1
Schaumburg, H.H.2
-
4
-
-
0017117382
-
Autosomal dominant striatonigral degeneration: A clinical, pathological, and biochemical study of a new genetic disorder
-
Roscnbcrg RN, Nyhan WL, et al. Autosomal dominant stria- tonigral degeneration: a clinical, pathological, and biochemical study of a new genetic disorder. Neurology 1976;26:703-714
-
(1976)
Neurology
, vol.26
, pp. 703-714
-
-
Roscnbcrg, R.N.1
Nyhan, W.L.2
-
6
-
-
0017871680
-
Autosomal dominant system degeneration in Portuguese families of the Azores islands: A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions
-
Coutinho P, Andrade C. Autosomal dominant system degener- ation in Portuguese families of the Azores islands: a new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology 1978;28:703-709
-
(1978)
Neurology
, vol.28
, pp. 703-709
-
-
Coutinho, P.1
Andrade, C.2
-
7
-
-
0018872672
-
Clinical criteria for diagnosis of Machado- Joscph disease: Report of a non-Azorean Portuguese family
-
Lima L, Coutinho P, Clinical criteria for diagnosis of Machado- Joscph disease: report of a non-Azorean Portuguese family. Neurology 1980;30:319-322
-
(1980)
Neurology
, vol.30
, pp. 319-322
-
-
Lima, L.1
Coutinho, P.2
-
9
-
-
1842291966
-
Origins and dissemination of MJD as another marker of Portuguese migrarion
-
Bethesda, MD, June 3-4
-
Sequeiros J. Origins and dissemination of MJD as another marker of Portuguese migrarion. Research Initiatives on Machado Joseph Disease, Bethesda, MD, June 3-4, 1991
-
(1991)
Research Initiatives on Machado Joseph Disease
-
-
Sequeiros, J.1
-
10
-
-
0027356605
-
Epidemiology and clinical aspects of Machado-Joseph disease
-
Sequeiros J, Coucinho P. Epidemiology and clinical aspects of Machado-Joseph disease. Adv Neurol 1993;61:139-153
-
(1993)
Adv Neurol
, vol.61
, pp. 139-153
-
-
Sequeiros, J.1
Coucinho, P.2
-
11
-
-
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;4:300-304
-
(1993)
Nat Genet
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
-
12
-
-
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;21:645-648
-
(1994)
Genomics
, vol.21
, pp. 645-648
-
-
Sequeiros, J.1
Silveira, I.2
Maciel, P.3
-
13
-
-
0028141728
-
Machado- Joseph disease in pedigrees of Azorean descent is also linked to chromosome 14
-
St. George-Hyslop P, Rogaeva E, Hutterer J, et al. Machado- Joseph disease in pedigrees of Azorean descent is also linked to chromosome 14. Am J Hum Genet 1994;55:120-125
-
(1994)
Am J Hum Genet
, vol.55
, pp. 120-125
-
-
St. George-Hyslop, P.1
Rogaeva, E.2
Hutterer, J.3
-
14
-
-
0028911758
-
Machado-Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus
-
Twist EC, Casaubon LK, et al. Machado-Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. J Med Genet 1995;32:25-31
-
(1995)
J Med Genet
, vol.32
, pp. 25-31
-
-
Twist, E.C.1
Casaubon, L.K.2
-
15
-
-
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. Nat Genet 1994;8:221-227
-
(1994)
Nat Genet
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
16
-
-
1842300902
-
A six-year study of Machado-Joseph disease of non- Portuguese families in China
-
April 7-9
-
Wang GX. A six-year study of Machado-Joseph disease of non- Portuguese families in China. Presented at the third interna- tional workshop on Machado-Joseph disease, April 7-9, 1994
-
(1994)
Third International Workshop on Machado-Joseph Disease
-
-
Wang, G.X.1
-
17
-
-
0029074484
-
A comparison of the Huntington's disease associated trinucleotide repeat between Chinese and white populations
-
Soong BW, Wang JT. A comparison of the Huntington's dis- ease associated trinucleotide repeat between Chinese and white populations. J Med Genet 1995;32:404-405
-
(1995)
J Med Genet
, vol.32
, pp. 404-405
-
-
Soong, B.W.1
Wang, J.T.2
-
18
-
-
9344245162
-
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
-
Silveira I, Lopes-Cendes I, Kish S, et al. Frequency of spino- cerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 1996;46:214-218
-
(1996)
Neurology
, vol.46
, pp. 214-218
-
-
Silveira, I.1
Lopes-Cendes, I.2
Kish, S.3
-
19
-
-
0028988941
-
Trinucleotide ex- Pansion within the MJDl gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
-
Schols L, Vieira-Saecker AM, Schols S, et al. Trinucleotide ex- pansion within the MJDl gene presents clinically as spinocere- bellar ataxia and occurs most frequently in German SCA pa- tients. Hum Mol Genet 1995;4:1001-1005
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1001-1005
-
-
Schols, L.1
Vieira-Saecker, A.M.2
Schols, S.3
-
20
-
-
0029991809
-
Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease
-
Higgins JJ, Nee LE, Vasconcelos O, et al. Mutations in Amer- ican families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology 1996;46:208-213
-
(1996)
Neurology
, vol.46
, pp. 208-213
-
-
Higgins, J.J.1
Nee, L.E.2
Vasconcelos, O.3
-
21
-
-
0029134871
-
Spinocerebellar ataxia type 1 and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia
-
Ranum LPW, Lundgren JK, Schut LJ, et al. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet 1995;57:603-608
-
(1995)
Am J Hum Genet
, vol.57
, pp. 603-608
-
-
Ranum, L.P.W.1
Lundgren, J.K.2
Schut, L.J.3
-
22
-
-
0029006340
-
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease
-
Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995;38:68-72
-
(1995)
Ann Neurol
, vol.38
, pp. 68-72
-
-
Matilla, T.1
McCall, A.2
Subramony, S.H.3
Zoghbi, H.Y.4
-
23
-
-
0029690663
-
Machado-Joseph disease and SCA3: The genotype meets the phenotypes
-
Junck L, Fink JK. Machado-Joseph disease and SCA3: the ge- notype meets the phenotypes. Neurology 1996;46:4-8
-
(1996)
Neurology
, vol.46
, pp. 4-8
-
-
Junck, L.1
Fink, J.K.2
-
24
-
-
0021719186
-
The natural history of Machado-Joseph disease: An analysis of 138 personally examined cases
-
Barbeau A, Roy M, Cunha L, et al. The natural history of Machado-Joseph disease: an analysis of 138 personally exam- ined cases. Can J Neurol Sci 1984;11:510-525
-
(1984)
Can J Neurol Sci
, vol.11
, pp. 510-525
-
-
Barbeau, A.1
Roy, M.2
Cunha, L.3
-
25
-
-
0029042742
-
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
-
Maruyama H, Nakamura S, Matsuyama Z, et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 1995;4:807-812
-
(1995)
Hum Mol Genet
, vol.4
, pp. 807-812
-
-
Maruyama, H.1
Nakamura, S.2
Matsuyama, Z.3
-
26
-
-
0027982426
-
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence
-
Rubisztein DC, Amos W, Leggo J, et al. Mutational bias pro- vides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet 1994;7:525-530
-
(1994)
Nat Genet
, vol.7
, pp. 525-530
-
-
Rubisztein, D.C.1
Amos, W.2
Leggo, J.3
-
27
-
-
0029009456
-
Evidence for intergenerational instability in the CAG repeat 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 CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Jap- anese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 1995;4:1137-1146
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
-
28
-
-
0027261537
-
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
-
Snell RG, MacMillan JC, Cheadle JP, et al. Relationship be- tween trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 1993;4:393-397
-
(1993)
Nat Genet
, vol.4
, pp. 393-397
-
-
Snell, R.G.1
MacMillan, J.C.2
Cheadle, J.P.3
-
29
-
-
0029286517
-
Unique features of the CAG repeats in Machado-Joseph disease
-
Kawakami H, Maruyama H, Nakamura S, et al. Unique fea- tures of the CAG repeats in Machado-Joseph disease. Nat Genet 1995;9:344-345
-
(1995)
Nat Genet
, vol.9
, pp. 344-345
-
-
Kawakami, H.1
Maruyama, H.2
Nakamura, S.3
-
30
-
-
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
-
31
-
-
0028355538
-
n repeat variation and selection against extreme expansion in sperm
-
n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 1994;54:575-585
-
(1994)
Am J Hum Genet
, vol.54
, pp. 575-585
-
-
Jansen, G.1
Willems, P.2
Coerwinkel, M.3
-
32
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
-
Ranum LPW, Schut LJ, et al. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994;5:280-284
-
(1994)
Nat Genet
, vol.5
, pp. 280-284
-
-
Ranum, L.P.W.1
Schut, L.J.2
-
33
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel P, Caspar C, DeStefano AL, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph dis- ease. Am J Hum Genet 1995;57:54-61
-
(1995)
Am J Hum Genet
, vol.57
, pp. 54-61
-
-
Maciel, P.1
Caspar, C.2
DeStefano, A.L.3
-
34
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung M, Banfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.2
Banfi, S.3
-
35
-
-
0029084672
-
Characterization of the unstable expanded CAG repeat in the MJD1 gene in four Brailian families of Portuguese descent with Machado-Joseph disease
-
Stevanin G, Cassa E, Cancel G, et al. Characterization of the unstable expanded CAG repeat in the MJD1 gene in four Bra- zilian families of Portuguese descent with Machado-Joseph dis- ease. J Med Genet 1995;32:827-830
-
(1995)
J Med Genet
, vol.32
, pp. 827-830
-
-
Stevanin, G.1
Cassa, E.2
Cancel, G.3
-
36
-
-
2642681465
-
Review of neuropathological findings in Machado- Joseph disease: Clinico-pathological correlation
-
Bethesda, MD, June 3-4
-
Coutinho P. Review of neuropathological findings in Machado- Joseph disease: clinico-pathological correlation. Research Initia- tives on Machado Joseph Disease, Bethesda, MD, June 3-4, 1991
-
(1991)
Research Initiatives on Machado Joseph Disease
-
-
Coutinho, P.1
-
37
-
-
0026642854
-
Machado-Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies
-
Sudarsky L, Corwin L, Dawson DM. Machado-Joseph disease in New England: clinical description and distinction from the olivopontocerebellar atrophies. Mov Disord 1992;7:204-208
-
(1992)
Mov Disord
, vol.7
, pp. 204-208
-
-
Sudarsky, L.1
Corwin, L.2
Dawson, D.M.3
-
38
-
-
0027371289
-
Metabolic and cognitive changes in hereditary ataxia
-
Matthew E, Nordahl T, Schut L, et al. Metabolic and cognitive changes in hereditary ataxia. J Neurol Sci 1993;119:134-140
-
(1993)
J Neurol Sci
, vol.119
, pp. 134-140
-
-
Matthew, E.1
Nordahl, T.2
Schut, L.3
-
39
-
-
0023855143
-
Cerebellar and brainstem hypometabolism in olivopontocerebellar atrophy detected with positron emission tomography
-
Gilman S, Markel DS, et al. Cerebellar and brainstem hypome- tabolism in olivopontocerebellar atrophy detected with positron emission tomography. Ann Neurol 1988;23:223-230
-
(1988)
Ann Neurol
, vol.23
, pp. 223-230
-
-
Gilman, S.1
Markel, D.S.2
-
40
-
-
0028001433
-
Patterns of cerebral glu- Cose metabolism detected with positron emission tomography differ in multiple system atrophy and olivopontocerebellar atrophy
-
Gilman S, Koeppe RA, Junck L, et al. Patterns of cerebral glu- cose metabolism detected with positron emission tomography differ in multiple system atrophy and olivopontocerebellar atro- phy. Ann Neurol 1994;36:166-175
-
(1994)
Ann Neurol
, vol.36
, pp. 166-175
-
-
Gilman, S.1
Koeppe, R.A.2
Junck, L.3
-
41
-
-
0029160615
-
A comparison of cerebral blood flow and glucose metabolism in olivopontocerebellar atrophy using PET
-
Gilman S, St. Laurent RT, Koeppe RA, et al. A comparison of cerebral blood flow and glucose metabolism in olivopontocer- ebellar atrophy using PET. Neurology 1995;45:1345-1352
-
(1995)
Neurology
, vol.45
, pp. 1345-1352
-
-
Gilman, S.1
St. Laurent, R.T.2
Koeppe, R.A.3
|