-
1
-
-
0025350263
-
Autosomal dominant ataxia: Genetic evidence for locus heterogeneity from a Cuban Founder-effect population
-
Auburger, G., G. Orozco Diaz, R. Ferreira Capote et al.: Autosomal dominant ataxia: Genetic evidence for locus heterogeneity from a Cuban Founder-effect population. Am. J. Hum. Genet 46 (1990) 1163 - 1177
-
(1990)
Am. J. Hum. Genet
, vol.46
, pp. 1163-1177
-
-
Auburger, G.1
Orozco Diaz, G.2
Ferreira Capote, R.3
-
2
-
-
0028017992
-
Identification and characterisation of the gene causing type 1 spinocerebellar ataxia
-
Banfi, S., A. Servadio, M. Chung et al.: Identification and characterisation of the gene causing type 1 spinocerebellar ataxia. Nature Genet. 7 (1994) 513 - 520
-
(1994)
Nature Genet.
, vol.7
, pp. 513-520
-
-
Banfi, S.1
Servadio, A.2
Chung, M.3
-
3
-
-
0001327424
-
Malformation of erythrocytes in a case of atypical retinitis pigmentosa
-
Bassen, F. A., A. L Kornzweig: Malformation of erythrocytes in a case of atypical retinitis pigmentosa. Blood 5 (1950) 381 - 387
-
(1950)
Blood
, vol.5
, pp. 381-387
-
-
Bassen, F.A.1
Kornzweig, A.L.2
-
4
-
-
0028025275
-
Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus
-
Belal, S., G. Cancel, G. Stevanin et al.: Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus. Neurology 44 (1994) 1423 - 1426
-
(1994)
Neurology
, vol.44
, pp. 1423-1426
-
-
Belal, S.1
Cancel, G.2
Stevanin, G.3
-
5
-
-
0027430101
-
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families
-
Ben Hamida, M., S. Belal, G. Sirugo et al.: Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology 43 (1993) 2179 - 2183
-
(1993)
Neurology
, vol.43
, pp. 2179-2183
-
-
Ben Hamida, M.1
Belal, S.2
Sirugo, G.3
-
6
-
-
0029031694
-
The gene for autosomal dominant ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
-
Benomar, A., L Krols, G. Stevanin et al.: The gene for autosomal dominant ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nature Genet. 10 (1995) 84 - 88
-
(1995)
Nature Genet.
, vol.10
, pp. 84-88
-
-
Benomar, A.1
Krols, L.2
Stevanin, G.3
-
7
-
-
0028353818
-
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I
-
Benomar, A., E. Le Guern, A. Dürr et al.: Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann. Neurol. 35 (1994) 439 - 444
-
(1994)
Ann. Neurol.
, vol.35
, pp. 439-444
-
-
Benomar, A.1
Le Guern, E.2
Dürr, A.3
-
8
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CAG) repeat at the 3'end of a transcript encoding a protein kinase family member
-
Brook, J. D., M. E. McCurrach, H. G. Harley et al.: Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CAG) repeat at the 3'end of a transcript encoding a protein kinase family member. Cell 68 (1992) 799 - 808
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
-
9
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
-
Browne, D. L., S. T. Gancher, J. G. Nutt et al.: Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nature Genet. 8 (1994) 136 - 140
-
(1994)
Nature Genet.
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
-
10
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright, E. N., H. B. Clark, A. Servadio et al.: SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82 (1995) 937 - 948
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
Clark, H.B.2
Servadio, A.3
-
11
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano, V., L Montermini, M. D. Moltò et al.: Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 (1996) 1423 - 1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltò, M.D.3
-
12
-
-
0023751357
-
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
-
Chamberlain, S., J. Shaw, A. Rowland et al.: Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 334 (1988) 248 - 250
-
(1988)
Nature
, vol.334
, pp. 248-250
-
-
Chamberlain, S.1
Shaw, J.2
Rowland, A.3
-
13
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
-
Chung, M., L. P. W. Ranum, L. A. Duvick et al.: Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 5 (1993) 254 - 258
-
(1993)
Nature Genet.
, vol.5
, pp. 254-258
-
-
Chung, M.1
Ranum, L.P.W.2
Duvick, L.A.3
-
15
-
-
0028120296
-
Late onset Friedreich's disease: Clinical features and mapping of mutation to the FRDA locus
-
De Michele, G., A. Filla, F. Cavalcanti et al.: Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. J. Neurol. Neurosurg. Psychiatry 57 (1994) 977 - 979
-
(1994)
J. Neurol. Neurosurg. Psychiatry
, vol.57
, pp. 977-979
-
-
De Michele, G.1
Filla, A.2
Cavalcanti, F.3
-
16
-
-
0028877774
-
Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations
-
Dubourg, O., A. Dürr, G. Cancel et al.: Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann. Neurol. 37 (1995) 176 - 180
-
(1995)
Ann. Neurol.
, vol.37
, pp. 176-180
-
-
Dubourg, O.1
Dürr, A.2
Cancel, G.3
-
17
-
-
0029611008
-
Autosomal dominant cerebellar ataxia type 1 in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
-
Dürr, A., D. Smadja, G. Cancel et al.: Autosomal dominant cerebellar ataxia type 1 in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 118 (1995) 1573 - 1581
-
(1995)
Brain
, vol.118
, pp. 1573-1581
-
-
Dürr, A.1
Smadja, D.2
Cancel, G.3
-
19
-
-
0028304397
-
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic Study of eight families
-
Enevoldson, T. P., M. D. Sanders, A. E. Harding: Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic Study of eight families. Brain 117 (1994) 445 - 460
-
(1994)
Brain
, vol.117
, pp. 445-460
-
-
Enevoldson, T.P.1
Sanders, M.D.2
Harding, A.E.3
-
20
-
-
0028901773
-
Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family
-
Filla, A., G. De Michele, S. Banfi et al.: Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 45 (1995) 793 - 796
-
(1995)
Neurology
, vol.45
, pp. 793-796
-
-
Filla, A.1
De Michele, G.2
Banfi, S.3
-
21
-
-
0028868126
-
Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q
-
Fink, J. K., W. C. Brocade, S. M. Lones et al.: Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am. J. Hum. Genet. 56 (1995) 188 - 192
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 188-192
-
-
Fink, J.K.1
Brocade, W.C.2
Lones, S.M.3
-
22
-
-
0023802480
-
Glucose metabolism alterations in Friedreich's ataxia
-
Finocchiaro, G., G. Baio, P. Micossi, G. Pozza, S. Di Donato: Glucose metabolism alterations in Friedreich's ataxia. Neurology 38 (1988) 1292 - 1296
-
(1988)
Neurology
, vol.38
, pp. 1292-1296
-
-
Finocchiaro, G.1
Baio, G.2
Micossi, P.3
Pozza, G.4
Di Donato, S.5
-
23
-
-
34447604868
-
Über degenerative Atrophie der spinalen Hinterstränge
-
Friedreich, N.: Über degenerative Atrophie der spinalen Hinterstränge. Virchows Arch. Pathol. Anat. 26 (1863) 391 - 419
-
(1863)
Virchows Arch. Pathol. Anat.
, vol.26
, pp. 391-419
-
-
Friedreich, N.1
-
24
-
-
34447609375
-
Über degenerative Atrophie der spinalen Hinterstränge
-
Friedreich, N.: Über degenerative Atrophie der spinalen Hinterstränge. Virchows Arch. Pathol. Anat. 26 (1863) 433 - 459
-
(1863)
Virchows Arch. Pathol. Anat.
, vol.26
, pp. 433-459
-
-
Friedreich, N.1
-
25
-
-
0010410867
-
Über degenerative Atrophie der spinalen Hinterstränge
-
Friedreich, N.: Über degenerative Atrophie der spinalen Hinterstränge. Virchows Arch. Pathol. Anat. 27 (1863) 1 - 26
-
(1863)
Virchows Arch. Pathol. Anat.
, vol.27
, pp. 1-26
-
-
Friedreich, N.1
-
26
-
-
0001443567
-
Über Ataxie mit besonderer Berücksichtigung der hereditären Formen
-
Friedreich, N.: Über Ataxie mit besonderer Berücksichtigung der hereditären Formen. Virchows Arch. Pathol. Anat. 68 (1876) 145 - 245
-
(1876)
Virchows Arch. Pathol. Anat.
, vol.68
, pp. 145-245
-
-
Friedreich, N.1
-
27
-
-
0000428379
-
Über Ataxie mit besonderer Berücksichtigung der hereditären Formen
-
Friedreich, N.: Über Ataxie mit besonderer Berücksichtigung der hereditären Formen. Virchows Arch. Pathol. Anat. 70 (1877) 140 - 152
-
(1877)
Virchows Arch. Pathol. Anat.
, vol.70
, pp. 140-152
-
-
Friedreich, N.1
-
28
-
-
0001172320
-
Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred
-
Gardner, K., K. Alderson, B. Galster et al.: Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology 44 (1994) A361
-
(1994)
Neurology
, vol.44
-
-
Gardner, K.1
Alderson, K.2
Galster, B.3
-
29
-
-
0024205754
-
Localization of an ataxia-teleangiectasia gene to chromosome 11q22-23
-
Gatti, R. A., I. Berkel, E. Boder et al.: Localization of an ataxia-teleangiectasia gene to chromosome 11q22-23. Nature 336 (1988) 577 - 580
-
(1988)
Nature
, vol.336
, pp. 577-580
-
-
Gatti, R.A.1
Berkel, I.2
Boder, E.3
-
30
-
-
0027170473
-
Prenatal genotyping of ataxia teleangiectasia
-
Gatti, R. A., K. Peterson, J. Novak et al.: Prenatal genotyping of ataxia teleangiectasia [Letter]. Lancet 342 (1993) 376
-
(1993)
Lancet
, vol.342
, pp. 376
-
-
Gatti, R.A.1
Peterson, K.2
Novak, J.3
-
31
-
-
0017056474
-
Clinical description and roentgenological evaluation of patients with Friedrich's ataxia
-
Geoffrey, G., A. Barbeau, A. Breton et al.: Clinical description and roentgenological evaluation of patients with Friedrich's ataxia. Can. J. Neurol. Sci. 3 (1976) 279 - 286
-
(1976)
Can. J. Neurol. Sci.
, vol.3
, pp. 279-286
-
-
Geoffrey, G.1
Barbeau, A.2
Breton, A.3
-
32
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
-
Gispert, S., R. Twells, G. Orozco et al.: Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet. 4 (1993) 295 - 299
-
(1993)
Nature Genet.
, vol.4
, pp. 295-299
-
-
Gispert, S.1
Twells, R.2
Orozco, G.3
-
33
-
-
0028037806
-
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias
-
Giunti, P., M. G. Sweeney, M. Sparado et al.: The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain 117 (1994) 645 - 649
-
(1994)
Brain
, vol.117
, pp. 645-649
-
-
Giunti, P.1
Sweeney, M.G.2
Sparado, M.3
-
34
-
-
0028882406
-
Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders including the Drew family of Walworth
-
Giunti, P., M. G. Sweeney, A. E. Harding: Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders including the Drew family of Walworth. Brain 118 (1995) 1077 - 1085
-
(1995)
Brain
, vol.118
, pp. 1077-1085
-
-
Giunti, P.1
Sweeney, M.G.2
Harding, A.E.3
-
35
-
-
0024519130
-
X-linked spastic paraplegia: Evidence for homogeneity with a variable phenotype
-
Goldblatt, J., R. Ballo, B. Sachs, A. Moosa: X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. Clin. Genet. 35 (1989) 116 - 120
-
(1989)
Clin. Genet.
, vol.35
, pp. 116-120
-
-
Goldblatt, J.1
Ballo, R.2
Sachs, B.3
Moosa, A.4
-
36
-
-
0028871764
-
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the α-tocopherol-transfer protein
-
Gotoda, T., M. Arita, A. Hiroyuki et al.: Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the α-tocopherol-transfer protein. N. Engl. J. Med. 333 (1995) 1313 - 1318
-
(1995)
N. Engl. J. Med.
, vol.333
, pp. 1313-1318
-
-
Gotoda, T.1
Arita, M.2
Hiroyuki, A.3
-
37
-
-
0029048660
-
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
-
Gouw. L. G., C. D. Kaplan, J. H. Haines et al.: Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature Genet. 10 (1995) 89 - 93
-
(1995)
Nature Genet.
, vol.10
, pp. 89-93
-
-
Gouw, L.G.1
Kaplan, C.D.2
Haines, J.H.3
-
39
-
-
0019782799
-
Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
-
Harding, A. E.: Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104 (1981) 589 - 620
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
40
-
-
0019902437
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias
-
Harding, A. E.: The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. Brain 105 (1982) 1 - 28
-
(1982)
Brain
, vol.105
, pp. 1-28
-
-
Harding, A.E.1
-
41
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
Harding, A. E.: Classification of the hereditary ataxias and paraplegias. Lancet (1983) 1151 - 1155
-
(1983)
Lancet
, pp. 1151-1155
-
-
Harding, A.E.1
-
43
-
-
0027981739
-
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
-
Hazan, J., B. Fontaine, R. P. M. Bruyn et al.: Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum. Mol. Genet. 3 (1994) 1569 - 1573
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1569-1573
-
-
Hazan, J.1
Fontaine, B.2
Bruyn, R.P.M.3
-
44
-
-
0027363223
-
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q
-
Hazan, J., C. Lamy, J. Melki et al.: Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nature Genet. 5 (1993) 163 - 167
-
(1993)
Nature Genet.
, vol.5
, pp. 163-167
-
-
Hazan, J.1
Lamy, C.2
Melki, J.3
-
45
-
-
84866472537
-
Linkage of the "pure" recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
-
Hentati, A., M. A. Pericack-Vance, W. Y. Hung et al.: Linkage of the "pure" recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Am. J. Hum. Genet. 53 (1993) 1014
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 1014
-
-
Hentati, A.1
Pericack-Vance, M.A.2
Hung, W.Y.3
-
46
-
-
8044253495
-
Pure recessive familial spastic paraplegia: Evidence of linkage to chromosome 8 and genetic locus heterogeneity
-
Hentati, A., M. A. Pericack-Vance, W. I. Hung et al.: Pure recessive familial spastic paraplegia: Evidence of linkage to chromosome 8 and genetic locus heterogeneity. Neurology 44 (1994) A361
-
(1994)
Neurology
, vol.44
-
-
Hentati, A.1
Pericack-Vance, M.A.2
Hung, W.I.3
-
47
-
-
0027512319
-
A family showing no evidence of linkage between the ataxia teleangiectasia gene and chromosome 11q22-23
-
Hernandez, D., C. McConville, M. Stacey et al.: A family showing no evidence of linkage between the ataxia teleangiectasia gene and chromosome 11q22-23. J. Med. Genet. 30 (1993) 135 - 140
-
(1993)
J. Med. Genet.
, vol.30
, pp. 135-140
-
-
Hernandez, D.1
McConville, C.2
Stacey, M.3
-
48
-
-
77957188127
-
A form of familial degeneration of the cerebellum
-
Holmes, G.: A form of familial degeneration of the cerebellum. Brain. 30 (1907) 466 - 489
-
(1907)
Brain
, vol.30
, pp. 466-489
-
-
Holmes, G.1
-
49
-
-
0000834705
-
An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia
-
Holmes, G.: An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia. Brain 30 (1907) 545 - 567
-
(1907)
Brain
, vol.30
, pp. 545-567
-
-
Holmes, G.1
-
50
-
-
0017389522
-
Spinocerebellar ataxia and HLA-linkage. Risk prediction by HLA typing
-
Jackson, J. F., R. D. Currier, P. I. Terasaki, N. E. Morton: Spinocerebellar ataxia and HLA-linkage. Risk prediction by HLA typing. N. Engl. J. Med. 296 (1977) 1138 - 1141
-
(1977)
N. Engl. J. Med.
, vol.296
, pp. 1138-1141
-
-
Jackson, J.F.1
Currier, R.D.2
Terasaki, P.I.3
Morton, N.E.4
-
51
-
-
8044246001
-
Effect of trinucleotide repeat length and parenteral sex on phenotypic variation in spinocerebellar type 1
-
Jodice, C., P. Malaspina, F. Persichetti et al.: Effect of trinucleotide repeat length and parenteral sex on phenotypic variation in spinocerebellar type 1. Am. J. Hum. Genet. 2 (1993) 2123 - 2128
-
(1993)
Am. J. Hum. Genet.
, vol.2
, pp. 2123-2128
-
-
Jodice, C.1
Malaspina, P.2
Persichetti, F.3
-
52
-
-
0028241952
-
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene
-
Jouet, M., A. Rosenthal, G. Armstrong et al.: X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature Genet. 7 (1994) 402
-
(1994)
Nature Genet.
, vol.7
, pp. 402
-
-
Jouet, M.1
Rosenthal, A.2
Armstrong, G.3
-
53
-
-
0025935319
-
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system
-
Kageyama, Y., K. Ichikawa, A. Fujioka et al.: An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. Acta Neuropathol. 83 (1991) 99 - 103
-
(1991)
Acta Neuropathol.
, vol.83
, pp. 99-103
-
-
Kageyama, Y.1
Ichikawa, K.2
Fujioka, A.3
-
54
-
-
0029049256
-
Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan
-
Kameya, T., K. Abe, M. Aoki et at.: Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan. Neurology 45 (1995) 1587 - 1594
-
(1995)
Neurology
, vol.45
, pp. 1587-1594
-
-
Kameya, T.1
Abe, K.2
Aoki, M.3
-
55
-
-
0029083360
-
Clinical implications of basic research. Ataxia-teleangiectasia - Broad implications for a rare disorder
-
Kastan, M.: Clinical implications of basic research. Ataxia-teleangiectasia - broad implications for a rare disorder. N. Engl. J. Med. 333 (1995) 662 - 663
-
(1995)
N. Engl. J. Med.
, vol.333
, pp. 662-663
-
-
Kastan, M.1
-
56
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi, Y., T. Okamoto, M. Taniwaki et al.: CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8 (1994) 221 - 228
-
(1994)
Nature Genet.
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
57
-
-
0027378046
-
The neurologic syndrome of vitamin E deficiency: A significant cause of ataxia
-
Kayden, H. J.: The neurologic syndrome of vitamin E deficiency: A significant cause of ataxia. Neurology 43 (1995) 2167 - 2169
-
(1995)
Neurology
, vol.43
, pp. 2167-2169
-
-
Kayden, H.J.1
-
58
-
-
0027158054
-
Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: Clinical and genetic analysis of 10 French families
-
Khati, C., G. Stevanin, A. Durr et al.: Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: Clinical and genetic analysis of 10 French families. Neurology 43 (1993) 1131 - 1137
-
(1993)
Neurology
, vol.43
, pp. 1131-1137
-
-
Khati, C.1
Stevanin, G.2
Durr, A.3
-
59
-
-
0027250194
-
Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging
-
Klockgether, T., S. Chamberlain, U. Wüllner et al.: Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Arch. Neurol. 50 (1993) 803 - 806
-
(1993)
Arch. Neurol.
, vol.50
, pp. 803-806
-
-
Klockgether, T.1
Chamberlain, S.2
Wüllner, U.3
-
60
-
-
0025732905
-
Diagnostisches Vorgehen bei Ataxien des Erwachsenenalters
-
Klockgether. T., J. Dichgans: Diagnostisches Vorgehen bei Ataxien des Erwachsenenalters. Akt. Neurol. 18 (1991) 1 - 7
-
(1991)
Akt. Neurol.
, vol.18
, pp. 1-7
-
-
Klockgether, T.1
Dichgans, J.2
-
61
-
-
0029090273
-
Klassifikation und Diagnostik der degenerativen Ataxien
-
Klockgether, T., K. Bürk, G. Auburger, J. Dichgans: Klassifikation und Diagnostik der degenerativen Ataxien. Nervenarzt 66 (1995) 571 - 581
-
(1995)
Nervenarzt
, vol.66
, pp. 571-581
-
-
Klockgether, T.1
Bürk, K.2
Auburger, G.3
Dichgans, J.4
-
62
-
-
0029990713
-
Friedreich's ataxia with retained tendon reflexes: Molecular genetics, clinical neurophysiology, and magnetic resonance imaging
-
Klockgether, T., C. Zühlke, J. B. Schulz et al.: Friedreich's ataxia with retained tendon reflexes: Molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Neurology 46 (1996) 118 - 121
-
(1996)
Neurology
, vol.46
, pp. 118-121
-
-
Klockgether, T.1
Zühlke, C.2
Schulz, J.B.3
-
63
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
Knight, S. J. L., A. V. Flannery, M. C. Hirst et al.: Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74 (1993) 127 - 134
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.L.1
Flannery, A.V.2
Hirst, M.C.3
-
64
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide, R., T. Ikeuchi, O. Onodera et al.: Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6 (1994) 9 - 13
-
(1994)
Nature Genet.
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
-
65
-
-
0028815025
-
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
-
Komure, O., A. Sano, N. Nishino et al.: DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45 (1995) 143 - 149
-
(1995)
Neurology
, vol.45
, pp. 143-149
-
-
Komure, O.1
Sano, A.2
Nishino, N.3
-
66
-
-
0014787658
-
The olivopontocerebellar atrophies: A review
-
Konigsmark, B. W., L. P. Weiner: The olivopontocerebellar atrophies: a review. Medicine 49 (1970) 227 - 241
-
(1970)
Medicine
, vol.49
, pp. 227-241
-
-
Konigsmark, B.W.1
Weiner, L.P.2
-
67
-
-
0028089305
-
Infantile onset spinocerebellar ataxia with sensory neuropathy - A new inherited disease
-
Koskinen, T., P. Santavuori, K. Sainio et al.: Infantile onset spinocerebellar ataxia with sensory neuropathy - a new inherited disease. J. Neurol. Sci. 121 (1994) 50 - 56
-
(1994)
J. Neurol. Sci.
, vol.121
, pp. 50-56
-
-
Koskinen, T.1
Santavuori, P.2
Sainio, K.3
-
68
-
-
0028218559
-
Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)
-
Koskinen, T., K. Sainio, J. Rapola et al.: Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). Muscle Nerve 17 (1994) 509 - 515
-
(1994)
Muscle Nerve
, vol.17
, pp. 509-515
-
-
Koskinen, T.1
Sainio, K.2
Rapola, J.3
-
69
-
-
0029048004
-
A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p
-
Kramer, P. L., Q, Vue, S. T. Gancher et al.: A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p. Am. J. Hum. Genet. 57 (1995) 182 - 185
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 182-185
-
-
Kramer, P.L.1
Vue, Q.2
Gancher, S.T.3
-
70
-
-
0022546210
-
Hereditary cerebellar ataxia and genetic linkage with HLA
-
Kumar, D., C. E. Blank, K. Gelsthrope: Hereditary cerebellar ataxia and genetic linkage with HLA. Hum. Genet. 72 (1986) 327 - 332
-
(1986)
Hum. Genet.
, vol.72
, pp. 327-332
-
-
Kumar, D.1
Blank, C.E.2
Gelsthrope, K.3
-
71
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada, A. R., E. M. Wilson, D. B. Lubahn et al.: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352 (1991) 77 - 79
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
-
72
-
-
0028080406
-
Trinucleotide repeat expansion in neurological disease
-
La Spada, A. R., H. L. Paulson, K. H. Fischbeck: Trinucleotide repeat expansion in neurological disease. Ann. Neurol. 36 (1994) 814 - 822
-
(1994)
Ann. Neurol.
, vol.36
, pp. 814-822
-
-
La Spada, A.R.1
Paulson, H.L.2
Fischbeck, K.H.3
-
73
-
-
0018872672
-
Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family
-
Lima, L., P. Coutinho: Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family. Neurology 30 (1980) 319 - 322
-
(1980)
Neurology
, vol.30
, pp. 319-322
-
-
Lima, L.1
Coutinho, P.2
-
74
-
-
0028215542
-
Confirmation of the SCA2-locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region
-
Lopes-Cendes, I., E. Andermann, E. Attig et al.: Confirmation of the SCA2-locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region. Am. J. Hum. Genet. 54 (1994) 774 - 781
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 774-781
-
-
Lopes-Cendes, I.1
Andermann, E.2
Attig, E.3
-
75
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel, P., C. Gaspar, A. L De Stefano et al.: Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am. J. Hum. Genet. 57 (1995) 54 - 61
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 54-61
-
-
Maciel, P.1
Gaspar, C.2
De Stefano, A.L.3
-
76
-
-
0027108688
-
Identical genetic locus for Baltic and Mediterranean myoclonus
-
Malafosse, A., A. E. Lehesjoki, P. Genton et al.: Identical genetic locus for Baltic and Mediterranean myoclonus. Lancet 339 (1992) 1080 - 1081
-
(1992)
Lancet
, vol.339
, pp. 1080-1081
-
-
Malafosse, A.1
Lehesjoki, A.E.2
Genton, P.3
-
77
-
-
0000223839
-
Sur l'hérédo-ataxie cérébelleuse
-
Marie, P.: Sur l'hérédo-ataxie cérébelleuse. Semains de Medicine 13 (1893) 444 - 447
-
(1893)
Semains de Medicine
, vol.13
, pp. 444-447
-
-
Marie, P.1
-
78
-
-
0029042742
-
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
-
Maruyama, H., S. Nakamura, Z. Matsuyama et al.: Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum. Mol. Genet. 14 (1995) 807 - 815
-
(1995)
Hum. Mol. Genet.
, vol.14
, pp. 807-815
-
-
Maruyama, H.1
Nakamura, S.2
Matsuyama, Z.3
-
79
-
-
0029006340
-
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease
-
Matilla, T., A. McCall, S. H. Subramony, H. Y. Zoghbi: Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann. Neurol. 38 (1995) 68 - 72
-
(1995)
Ann. Neurol.
, vol.38
, pp. 68-72
-
-
Matilla, T.1
McCall, A.2
Subramony, S.H.3
Zoghbi, H.Y.4
-
80
-
-
0027716371
-
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias
-
Matilla, T., V. Volpini, D. Genis et al.: Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum. Mol. Genet. 2 (1993) 2123 - 2128
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2123-2128
-
-
Matilla, T.1
Volpini, V.2
Genis, D.3
-
81
-
-
34250575453
-
Beitrag zur Kenntnis der hereditären Ataxie und Kleinhirnatrophie
-
Menzel, P.: Beitrag zur Kenntnis der hereditären Ataxie und Kleinhirnatrophie. Archiv für Psychiatrie und Nervenkrankheiten 22 (1891) 160 - 190
-
(1891)
Archiv für Psychiatrie und Nervenkrankheiten
, vol.22
, pp. 160-190
-
-
Menzel, P.1
-
82
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi, S., H. Yanagisawa, K. Sato et al.: Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6 (1994) 14 - 18
-
(1994)
Nature Genet.
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
-
83
-
-
0020064620
-
Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy
-
Naito, H., S. Oyanagi: Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy. Neurology 32 (1982) 798 - 807
-
(1982)
Neurology
, vol.32
, pp. 798-807
-
-
Naito, H.1
Oyanagi, S.2
-
84
-
-
0015251021
-
Machado disease: A hereditary ataxia in Portuguese immigrants to Massachusetts
-
Nakano, K. K., D. M. Dawson, A. Spence: Machado disease: a hereditary ataxia in Portuguese immigrants to Massachusetts. Neurology 22 (1972) 49 - 55
-
(1972)
Neurology
, vol.22
, pp. 49-55
-
-
Nakano, K.K.1
Dawson, D.M.2
Spence, A.3
-
85
-
-
0028949919
-
Random search for shared chromosomal regions in four affected individuals: The assignment of a new ataxia locus
-
Nikali, K., A. Suomalainen, J. Terwilliger et al.: Random search for shared chromosomal regions in four affected individuals: the assignment of a new ataxia locus. Am. J. Hum. Genet. 56 (1995) 1088 - 1095
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1088-1095
-
-
Nikali, K.1
Suomalainen, A.2
Terwilliger, J.3
-
86
-
-
0018892013
-
A family with hereditary ataxia: HLA typing
-
Nino, H. E., H. J. Noreen, D. P. Dubey et al.: A family with hereditary ataxia: HLA typing. Neurology 30 (1980) 12 - 20
-
(1980)
Neurology
, vol.30
, pp. 12-20
-
-
Nino, H.E.1
Noreen, H.J.2
Dubey, D.P.3
-
87
-
-
0346448357
-
Über eine eigenthümliche familiäre Erkrankungsform des Centralnervensystems
-
Nonne, M.: Über eine eigenthümliche familiäre Erkrankungsform des Centralnervensystems. Archiv für Psychiatrie und Nervenkrankheiten 22 (1891) 283 - 316
-
(1891)
Archiv für Psychiatrie und Nervenkrankheiten
, vol.22
, pp. 283-316
-
-
Nonne, M.1
-
88
-
-
0029925102
-
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
-
Nystuen, A., P. J. Benke, J. Merren, E. M. Stone, V. C. Sheffield: A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum. Mol. Genet. 5 (1996) 525 - 531
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 525-531
-
-
Nystuen, A.1
Benke, P.J.2
Merren, J.3
Stone, E.M.4
Sheffield, V.C.5
-
89
-
-
0024997225
-
Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba
-
Orozco Diaz, G., A. Nodarse Fleites, R. Cordovés Sagaz, G. Auburger: Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 40 (1990) 1369 - 1375
-
(1990)
Neurology
, vol.40
, pp. 1369-1375
-
-
Orozco Diaz, G.1
Nodarse Fleites, A.2
Cordovés Sagaz, R.3
Auburger, G.4
-
90
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr, H. T., M. Chung, S. Banfi et al.: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4 (1993) 221 - 226
-
(1993)
Nature Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.2
Banfi, S.3
-
91
-
-
0028876572
-
Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein
-
Ouahchi, K., M. Arita, H. Kayden et al.: Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein. Nature Genet. 9 (1995) 141 - 145
-
(1995)
Nature Genet.
, vol.9
, pp. 141-145
-
-
Ouahchi, K.1
Arita, M.2
Kayden, H.3
-
92
-
-
0028941326
-
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q
-
Pahlau, F., G. De Michele, J. J. Vilchez et al.: Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann. Neurol. 37 (1995) 359 - 362
-
(1995)
Ann. Neurol.
, vol.37
, pp. 359-362
-
-
Pahlau, F.1
De Michele, G.2
Vilchez, J.J.3
-
93
-
-
0028099702
-
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
-
Parrish, J. E., B. A. Oostra, A. J. M. H. Verkerk et al.: Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nature Genet. 8 (1994) 229 - 235
-
(1994)
Nature Genet.
, vol.8
, pp. 229-235
-
-
Parrish, J.E.1
Oostra, B.A.2
Verkerk, A.J.M.H.3
-
95
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
-
Ranum, L. P. W., L. J. Schut, J. K. Lundgren et al.: Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet. 8 (1994) 280 - 284
-
(1994)
Nature Genet.
, vol.8
, pp. 280-284
-
-
Ranum, L.P.W.1
Schut, L.J.2
Lundgren, J.K.3
-
96
-
-
0028100732
-
Molecular and clinical correlations in spinocerebellar ataxia type I: Evidence for familial effects on the age of onset
-
Ranum, L. P. W., M. Chung, S. Banfi et al.: Molecular and clinical correlations in spinocerebellar ataxia type I: Evidence for familial effects on the age of onset. Am. J. Hum. Genet. 55 (1994) 244 - 252
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 244-252
-
-
Ranum, L.P.W.1
Chung, M.2
Banfi, S.3
-
97
-
-
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, L. P. W., J. K. Lungren, L. J. Schut 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. 57 (1995) 603 - 608
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 603-608
-
-
Ranum, L.P.W.1
Lungren, J.K.2
Schut, L.J.3
-
98
-
-
84866477833
-
Machado-Joseph-Erkrankung in Deutschland. Genetische und klinische Charakteristika
-
Rieß, O., L Schöls: Machado-Joseph-Erkrankung in Deutschland. Genetische und klinische Charakteristika. Dt. Ärztebl. 93 (1996) 1108 - 1110
-
(1996)
Dt. Ärztebl.
, vol.93
, pp. 1108-1110
-
-
Rieß, O.1
Schöls, L.2
-
99
-
-
0020558195
-
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages
-
Romeo, G., P. Menozzi, A. Ferlini et al.: Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am. J. Hum. Genet. 35 (1983) 523 - 529
-
(1983)
Am. J. Hum. Genet.
, vol.35
, pp. 523-529
-
-
Romeo, G.1
Menozzi, P.2
Ferlini, A.3
-
100
-
-
0017117382
-
Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder
-
Rosenberg, R. N., W. L. Nyhan, C. Bay, P. Shore: Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 26 (1976) 703 - 714
-
(1976)
Neurology
, vol.26
, pp. 703-714
-
-
Rosenberg, R.N.1
Nyhan, W.L.2
Bay, C.3
Shore, P.4
-
101
-
-
0026708036
-
Machado-Joseph disease: An autosomal dominant motor system degeneration
-
Rosenberg, R. N.: Machado-Joseph disease: An autosomal dominant motor system degeneration. Mov. Disord. 7 (1992) 193 - 203
-
(1992)
Mov. Disord.
, vol.7
, pp. 193-203
-
-
Rosenberg, R.N.1
-
102
-
-
0028871765
-
Spinocerebellar ataxias and ataxins
-
Rosenberg, R. N.: Spinocerebellar ataxias and ataxins. N. Engl. J. Med. 333 (1995) 1351 - 1353
-
(1995)
N. Engl. J. Med.
, vol.333
, pp. 1351-1353
-
-
Rosenberg, R.N.1
-
103
-
-
9044227266
-
Clinical features and natural history of spinocerebellar ataxia type 1
-
Sasaki, H., T. Fukazawa, T. Yanagihara et al.: Clinical features and natural history of spinocerebellar ataxia type 1. Acta Neurol. Scand. 93 (1996) 64 - 71
-
(1996)
Acta Neurol. Scand.
, vol.93
, pp. 64-71
-
-
Sasaki, H.1
Fukazawa, T.2
Yanagihara, T.3
-
104
-
-
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 disequilibrium in 24 Japanese families
-
Sasaki, H., A. Wakisaka, A. Takada 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 disequilibrium in 24 Japanese families. Am. J. Hum. Genet. 56 (1995) 231 - 242
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 231-242
-
-
Sasaki, H.1
Wakisaka, A.2
Takada, A.3
-
105
-
-
0028239867
-
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
-
Saugier-Veber, P., A. Munnich, D. Bonneau et al.: X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet. 6 (1994) 257 - 261
-
(1994)
Nature Genet.
, vol.6
, pp. 257-261
-
-
Saugier-Veber, P.1
Munnich, A.2
Bonneau, D.3
-
106
-
-
0029057336
-
A single ataxia teleangiectasia gene with a product similar to PI-3 kinase
-
Savitsky, K., A. Bar-Shira, S. Gilad et al.: A single ataxia teleangiectasia gene with a product similar to PI-3 kinase. Science 268 (1995) 1749 - 1753
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
-
107
-
-
84866470988
-
Genotype/phenotype relationships in German patients bearing the Machado-Joseph disease mutation
-
im Druck
-
Schöls, L., G. Amoiridis, J. T. Epplen et al.: Genotype/phenotype relationships in German patients bearing the Machado-Joseph disease mutation. J. Neurol. Neurosurg. Psychiatry, im Druck
-
J. Neurol. Neurosurg. Psychiatry
-
-
Schöls, L.1
Amoiridis, G.2
Epplen, J.T.3
-
108
-
-
84866473511
-
Motor evoked potentials in the spinocerebellar ataxias type 1 and type 3
-
im Druck
-
Schöls, L., G. Amoiridis, M. Langkafel et al.: Motor evoked potentials in the spinocerebellar ataxias type 1 and type 3. Muscle Nerve, im Druck
-
Muscle Nerve
-
-
Schöls, L.1
Amoiridis, G.2
Langkafel, M.3
-
109
-
-
0029915788
-
Mitochondrial disorders in degenerative ataxias
-
Schöls, L., H. Reichmann, G. Amoiridis et al.: Mitochondrial disorders in degenerative ataxias. Eur. J. Neurol. 3 (1996) 55 - 60
-
(1996)
Eur. J. Neurol.
, vol.3
, pp. 55-60
-
-
Schöls, L.1
Reichmann, H.2
Amoiridis, G.3
-
110
-
-
0028824269
-
Spinocerebellar ataxia type 1: Clinical and neurophysiological characteristics in German kindreds
-
Schöls, L., O. Riess, S. Schöls et al.: Spinocerebellar ataxia type 1: Clinical and neurophysiological characteristics in German kindreds. Acta Neurol. Scand. 92 (1995) 478 - 485
-
(1995)
Acta Neurol. Scand.
, vol.92
, pp. 478-485
-
-
Schöls, L.1
Riess, O.2
Schöls, S.3
-
111
-
-
0029127587
-
Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany
-
Schöls, L., O. Riess, A. M. M. Vieira-Saecker et al.: Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany. J. Neurol. Neurosurg. Psychiatry 59 (1995) 449 - 450
-
(1995)
J. Neurol. Neurosurg. Psychiatry
, vol.59
, pp. 449-450
-
-
Schöls, L.1
Riess, O.2
Vieira-Saecker, A.M.M.3
-
112
-
-
0028988941
-
Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
-
Schöls, L., A. M. M. Vieira-Saecker, S. Schöls et al.: Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum. Mol. Genet. 4 (1995) 1001 - 1005
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1001-1005
-
-
Schöls, L.1
Vieira-Saecker, A.M.M.2
Schöls, S.3
-
113
-
-
0028068781
-
Mitochondrial dysfunction in movement disorders
-
Schulz, J. B., M. F. Beal: Mitochondrial dysfunction in movement disorders. Current Opinion in Neurology 7 (1994) 333 - 339
-
(1994)
Current Opinion in Neurology
, vol.7
, pp. 333-339
-
-
Schulz, J.B.1
Beal, M.F.2
-
114
-
-
0000051759
-
Hereditary ataxia: Clinical study through six generations
-
Schut, J. W.: Hereditary ataxia: clinical study through six generations. Arch. Neurol. Psychiat. 63 (1950) 535 - 568
-
(1950)
Arch. Neurol. Psychiat.
, vol.63
, pp. 535-568
-
-
Schut, J.W.1
-
115
-
-
0006948231
-
Schut family ataxia
-
De Jong, J. M. B. V. (ed.): Elsevier Science Publishers B. V., Amsterdam
-
Schut, L. J.: Schut family ataxia. In: De Jong, J. M. B. V. (ed.): Handbook of clinical neurology. Vol. 16 (60). Elsevier Science Publishers B. V., Amsterdam (1991) 481 - 490
-
(1991)
Handbook of Clinical Neurology
, vol.16
, Issue.60
, pp. 481-490
-
-
Schut, L.J.1
-
116
-
-
0027356605
-
Epidemiology and clinical aspects of Machado-Joseph disease
-
Harding, A. E., T. Deufel (eds.): Raven Press, New York
-
Sequeiros, J., P. Coutinho: Epidemiology and clinical aspects of Machado-Joseph disease. In: Harding, A. E., T. Deufel (eds.): Advances in Neurology, Vol. 61. Raven Press, New York (1993) 139 - 153
-
(1993)
Advances in Neurology
, vol.61
, pp. 139-153
-
-
Sequeiros, J.1
Coutinho, P.2
-
117
-
-
0027428820
-
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia
-
Sharp, D., L. Blindermann, K. A. Combs et al.: Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 365 (1993) 65 - 69
-
(1993)
Nature
, vol.365
, pp. 65-69
-
-
Sharp, D.1
Blindermann, L.2
Combs, K.A.3
-
118
-
-
84984297168
-
X-linked cerebellar ataxia
-
Shokeir, M. H. K.: X-linked cerebellar ataxia. Clin. Genet. 1 (1970) 225 - 231
-
(1970)
Clin. Genet.
, vol.1
, pp. 225-231
-
-
Shokeir, M.H.K.1
-
119
-
-
9344245162
-
Frequency of spinocerebellar ataxia type 1, dentatorubral-pallidoluysian atrophy, Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
-
Silveira, I., I. Lopes-Cendes, S. Kish et al.: Frequency of spinocerebellar ataxia type 1, dentatorubral-pallidoluysian atrophy, Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 46 (1996) 214 - 218
-
(1996)
Neurology
, vol.46
, pp. 214-218
-
-
Silveira, I.1
Lopes-Cendes, I.2
Kish, S.3
-
120
-
-
0026582590
-
HLA-linked spinocerebellar ataxia: A clinical and genetic study of large Italian kindreds
-
Sparado, M., P. Giunti, P. Lulli et al.: HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds. Acta Neurol. Scand. 85 (1992) 257 - 265
-
(1992)
Acta Neurol. Scand.
, vol.85
, pp. 257-265
-
-
Sparado, M.1
Giunti, P.2
Lulli, P.3
-
121
-
-
0028157908
-
A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: Evidence for the existence of a fourth locus
-
Stevanin, G., E. Le Guern, N. Ravise et at.: A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: Evidence for the existence of a fourth locus. Am. J. Hum. Genet. 54 (1994) 11 - 20
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 11-20
-
-
Stevanin, G.1
Le Guern, E.2
Ravise, N.3
-
123
-
-
0026642854
-
Machado-Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies
-
Sudarsky, L., L. Corwin, D. M. Dawson: Machado-Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies. Mov. Disord. 7 (1992) 204 - 208
-
(1992)
Mov. Disord.
, vol.7
, pp. 204-208
-
-
Sudarsky, L.1
Corwin, L.2
Dawson, D.M.3
-
124
-
-
0023680089
-
Hereditary dentatorubral-pallidoluysian atrophy: Clinical and pathologic variants in a family
-
Takahashi, H., E. Ohama, H. Naito et al.: Hereditary dentatorubral-pallidoluysian atrophy: Clinical and pathologic variants in a family. Neurology 38 (1988) 1065 - 1070
-
(1988)
Neurology
, vol.38
, pp. 1065-1070
-
-
Takahashi, H.1
Ohama, E.2
Naito, H.3
-
125
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama, Y., M. Nishizawa, H. Tanaka et al.: The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet. 4 (1993) 300 - 303
-
(1993)
Nature Genet.
, vol.4
, pp. 300-303
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
-
126
-
-
0028141691
-
A clinical and pathological study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q
-
Takiyama, Y., S. Oyanagi, S. Kawashima et al.: A clinical and pathological study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 44 (1994) 1302 - 1308
-
(1994)
Neurology
, vol.44
, pp. 1302-1308
-
-
Takiyama, Y.1
Oyanagi, S.2
Kawashima, S.3
-
127
-
-
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., S. Igarashi, E. A. Rogaeva et al.: 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. Hum. Mol. Genet. 4 (1995) 1137 - 1146
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
-
128
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's disease collaborative research group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72 (1993) 971 - 983
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
129
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant ataxias
-
Trottler, Y., Y. Lutz, G. Stevanin et al.: Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant ataxias. Nature 378 (1995) 403 - 406
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottler, Y.1
Lutz, Y.2
Stevanin, G.3
-
130
-
-
0025285735
-
Movement disorders in mitochondrial myopathies: A study of nine cases with two autopsy studies
-
Truong, D. D., A. E. Harding, F. Scaravilli et al.: Movement disorders in mitochondrial myopathies: A study of nine cases with two autopsy studies. Mov. Disord. 5 (1990) 109 - 117
-
(1990)
Mov. Disord.
, vol.5
, pp. 109-117
-
-
Truong, D.D.1
Harding, A.E.2
Scaravilli, F.3
-
131
-
-
0028158775
-
Autosomal dominant cerebellar ataxia with dementia: Evidence for the existence of a fourth disease locus
-
Twells, R. et al.: Autosomal dominant cerebellar ataxia with dementia: evidence for the existence of a fourth disease locus. Hum. Mol. Genet. 3 (1994) 177 - 180
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 177-180
-
-
Twells, R.1
-
132
-
-
0028963974
-
A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p
-
Vahedi, K., A. Joutel, P. van Bogaert et al.: A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann. Neurol. 37 (1995) 289 - 293
-
(1995)
Ann. Neurol.
, vol.37
, pp. 289-293
-
-
Vahedi, K.1
Joutel, A.2
Van Bogaert, P.3
-
133
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation on fragile X syndrome
-
Verkerk, A. J. M. H., M. Peiretti, J. S. Sutcliffe et al.: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation on fragile X syndrome. Cell 65 (1991) 905 - 914
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Peiretti, M.2
Sutcliffe, J.S.3
-
134
-
-
0028920029
-
Mapping the gene for azetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p
-
von Brederlow, B., A. F. Hahn, W. J. Koopman et al.: Mapping the gene for azetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p. Hum. Mol. Genet. 4 (1995) 279 - 284
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 279-284
-
-
Von Brederlow, B.1
Hahn, A.F.2
Koopman, W.J.3
-
136
-
-
0028213984
-
Autosomal-dominant dentatorubral-pallidoluysian atrophy in the United Kingdom
-
Warner, T. T., G. G. Lennox, I. Janota, A. E. Harding: Autosomal-dominant dentatorubral-pallidoluysian atrophy in the United Kingdom. Mov. Disord. 9 (1994) 289 - 296
-
(1994)
Mov. Disord.
, vol.9
, pp. 289-296
-
-
Warner, T.T.1
Lennox, G.G.2
Janota, I.3
Harding, A.E.4
-
137
-
-
0028958153
-
A clinical and molecular genetic study of dentatorubral-pallidoluysian atrophy in four European families
-
Warner, T. T., L. Williams, R. W. H. Walker et al.: A clinical and molecular genetic study of dentatorubral-pallidoluysian atrophy in four European families. Ann. Neurol. 37 (1995) 452 - 459
-
(1995)
Ann. Neurol.
, vol.37
, pp. 452-459
-
-
Warner, T.T.1
Williams, L.2
Walker, R.W.H.3
-
138
-
-
0015412724
-
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: A unique and partially treatable clinicopathological entity
-
Woods, B. I., H. H. Schaumburg: Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinicopathological entity. J. Neurol. Sci. 17 (1972) 149 - 166
-
(1972)
J. Neurol. Sci.
, vol.17
, pp. 149-166
-
-
Woods, B.I.1
Schaumburg, H.H.2
-
139
-
-
0016396382
-
Hereditary ataxia and HLA genotypes
-
Yakura, H., A. Wakisaka, S. Fujimoto, K. Itakura: Hereditary ataxia and HLA genotypes. N. Engl. J. Med. 291 (1974) 154 - 155
-
(1974)
N. Engl. J. Med.
, vol.291
, pp. 154-155
-
-
Yakura, H.1
Wakisaka, A.2
Fujimoto, S.3
Itakura, K.4
-
140
-
-
0023875234
-
Spinocerebellar ataxia: Variable age of onset and linkage to human leucocyte antigen in a large kindred
-
Zoghbi, H. Y., M. S. Pollack, L. A. Lyons et al.: Spinocerebellar ataxia: variable age of onset and linkage to human leucocyte antigen in a large kindred. Ann. Neurol. 23 (1988) 580 - 584
-
(1988)
Ann. Neurol.
, vol.23
, pp. 580-584
-
-
Zoghbi, H.Y.1
Pollack, M.S.2
Lyons, L.A.3
|