-
1
-
-
0343103751
-
Refinement of spinal and bulbar muscular atrophy (SBMA) localization by linkage analysis
-
Ferlini, A. and Zanetti, A. and Guidetti, D. and Forabosco, A. (1991) Refinement of spinal and bulbar muscular atrophy (SBMA) localization by linkage analysis. Cytogen Cell Genet, 58, pp. 2064.
-
(1991)
Cytogen Cell Genet
, vol.58
, pp. 2064
-
-
Ferlini, A.1
Zanetti, A.2
Guidetti, D.3
Forabosco, A.4
-
2
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada, A. R. and Wilson, E. M. and Lubahn, D. B. and Harding, A. E. and Fischbeck, K. H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, pp. 77-9.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
3
-
-
0026894334
-
Moderate instability of the trinucleotide repeat in spino-bulbar muscular atrophy
-
Biancalana, V. and Serville, F. and Pommier, J. and Julien, J. and Hanauer, A. and Mandel, J. L. (1992) Moderate instability of the trinucleotide repeat in spino-bulbar muscular atrophy. Hum Mol Genet, 1, pp. 255-8.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 255-258
-
-
Biancalana, V.1
Serville, F.2
Pommier, J.3
Julien, J.4
Hanauer, A.5
Mandel, J.L.6
-
4
-
-
0030849613
-
Mouse models of human CAG repeat disorders
-
Burright, E. N. and Orr, H. T. and Clark, H. B. (1997) Mouse models of human CAG repeat disorders. Brain Pathol, 7, pp. 965-77.
-
(1997)
Brain Pathol
, vol.7
, pp. 965-977
-
-
Burright, E.N.1
Orr, H.T.2
Clark, H.B.3
-
5
-
-
0031985869
-
Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy
-
Butler, R. and Leigh, P. N. and McPhaul, M. J. and Gallo, J. M. (1998) Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy. Hum Mol Genet, 7, pp. 121-7.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 121-127
-
-
Butler, R.1
Leigh, P.N.2
McPhaul, M.J.3
Gallo, J.M.4
-
6
-
-
0029129227
-
Spinal and bulbar muscular atrophy: A trinucleotide-repeat expansion neurodegenerative disease
-
Brooks, B. P. and Fischbeck, K. H. (1995) Spinal and bulbar muscular atrophy: A trinucleotide-repeat expansion neurodegenerative disease. Trends Neurosci, 18, pp. 459-61.
-
(1995)
Trends Neurosci
, vol.18
, pp. 459-461
-
-
Brooks, B.P.1
Fischbeck, K.H.2
-
7
-
-
0343975426
-
Hereditary proximal spinal muscular atrophy of late onset
-
Kennedy, W. R. and Alter, M. and Foreman, R. T. (1966) Hereditary proximal spinal muscular atrophy of late onset. Neurology, 16, pp. 306-7.
-
(1966)
Neurology
, vol.16
, pp. 306-307
-
-
Kennedy, W.R.1
Alter, M.2
Foreman, R.T.3
-
8
-
-
0014310582
-
Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait
-
Kennedy, W. R. and Alter, M. and Sung, J. H. (1968) Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology, 18, pp. 671-80.
-
(1968)
Neurology
, vol.18
, pp. 671-680
-
-
Kennedy, W.R.1
Alter, M.2
Sung, J.H.3
-
9
-
-
0019777666
-
X-linked spinal and bulbar muscular atrophy of late onset (Kennedy-Stefanis disease?)
-
Papapetropoulos, T. and Panayiotopoulos, C. P. (1981) X-linked spinal and bulbar muscular atrophy of late onset (Kennedy-Stefanis disease?). Eur Neurol, 20, pp. 485-8.
-
(1981)
Eur Neurol
, vol.20
, pp. 485-488
-
-
Papapetropoulos, T.1
Panayiotopoulos, C.P.2
-
10
-
-
0020040898
-
Hereditary proximal spinal and bulbar motor neuron disease of late onset. A report of six cases
-
Barkhaus, P. E. and Kennedy, W. R. and Stern, L. Z. and Harrington, R. B. (1982) Hereditary proximal spinal and bulbar motor neuron disease of late onset. A report of six cases. Arch Neurol, 39, pp. 112-6.
-
(1982)
Arch Neurol
, vol.39
, pp. 112-116
-
-
Barkhaus, P.E.1
Kennedy, W.R.2
Stern, L.Z.3
Harrington, R.B.4
-
11
-
-
0024586435
-
X-linked recessive bulbo-spinal neuronopathy. A clinicopathological study
-
Sobue, G. and Hashizume, Y. and Mukai, E. and Hirayama, M. and Mitsuma, T. and Takahashi, A. (1989) X-linked recessive bulbo-spinal neuronopathy. A clinicopathological study. Brain, 112, pp. 209-32.
-
(1989)
Brain
, vol.112
, pp. 209-232
-
-
Sobue, G.1
Hashizume, Y.2
Mukai, E.3
Hirayama, M.4
Mitsuma, T.5
Takahashi, A.6
-
12
-
-
20144362557
-
Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients
-
Adachi, H. and Katsuno, M. and Minamiyama, M. and Waza, M. and Sang, C. and Nakagomi, Y. and et al. (2005) Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain, 128, pp. 659-70.
-
(2005)
Brain
, vol.128
, pp. 659-670
-
-
Adachi, H.1
Katsuno, M.2
Minamiyama, M.3
Waza, M.4
Sang, C.5
Nakagomi, Y.6
-
13
-
-
0029891996
-
CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation
-
Neuschmid-Kaspar, F. and Gast, A. and Peterziel, H. and Schneikert, J. and Muigg, A. and Ransmayr, G. and et al. (1996) CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation. Mol Cell Endocrinol, 117, pp. 149-56.
-
(1996)
Mol Cell Endocrinol
, vol.117
, pp. 149-156
-
-
Neuschmid-Kaspar, F.1
Gast, A.2
Peterziel, H.3
Schneikert, J.4
Muigg, A.5
Ransmayr, G.6
-
15
-
-
0023791805
-
Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers
-
Nagashima, T. and Seko, K. and Hirose, K. and Mannen, T. and Yoshimura, S. and Arima, R. and et al. (1988) Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers. J Neurol Sci, 87, pp. 141-52.
-
(1988)
J Neurol Sci
, vol.87
, pp. 141-152
-
-
Nagashima, T.1
Seko, K.2
Hirose, K.3
Mannen, T.4
Yoshimura, S.5
Arima, R.6
-
16
-
-
0003899122
-
Electrodiagnosis in diseases of nerve and muscle: Principles and practice
-
Philadelphia: F.A.Davis Company
-
Kimura, J. (1989) Electrodiagnosis in diseases of nerve and muscle: principles and practice. Philadelphia: F.A.Davis Company.
-
(1989)
-
-
Kimura, J.1
-
17
-
-
0344531037
-
Transgenic mouse models of spinal and bulbar muscular atrophy (SBMA)
-
Katsuno, M. and Adachi, H. and Inukai, A. and Sobue, G. (2003) Transgenic mouse models of spinal and bulbar muscular atrophy (SBMA). Cytogenet Genome Res, 100, pp. 243-51.
-
(2003)
Cytogenet Genome Res
, vol.100
, pp. 243-251
-
-
Katsuno, M.1
Adachi, H.2
Inukai, A.3
Sobue, G.4
-
18
-
-
0032737074
-
Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy
-
Meriggioli, M. N. and Rowin, J. and Sanders, D. B. (1999) Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. Muscle Nerve, 22, pp. 1693-7.
-
(1999)
Muscle Nerve
, vol.22
, pp. 1693-1697
-
-
Meriggioli, M.N.1
Rowin, J.2
Sanders, D.B.3
-
19
-
-
0030049356
-
X-linked bulbar and spinal muscular atrophy, or Kennedy's Disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family
-
Guidetti, D. and Vescovini, E. and Motti, L. and Ghidoni, E. and Gemignani, F. and Marbini, A. and et al. (1996) X-linked bulbar and spinal muscular atrophy, or Kennedy's Disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. J Neurol Sci, 135, pp. 140-8.
-
(1996)
J Neurol Sci
, vol.135
, pp. 140-148
-
-
Guidetti, D.1
Vescovini, E.2
Motti, L.3
Ghidoni, E.4
Gemignani, F.5
Marbini, A.6
-
20
-
-
0036891432
-
X-linked spinal and bulbar muscular atrophy without proximal atrophy
-
Boz, C. and Sahin, N. and Kalay, E. and Velioglu, S. and Ozmenoglu, M. (2002) X-linked spinal and bulbar muscular atrophy without proximal atrophy. Clin Neurol Neurosurg, 105, pp. 14-7.
-
(2002)
Clin Neurol Neurosurg
, vol.105
, pp. 14-17
-
-
Boz, C.1
Sahin, N.2
Kalay, E.3
Velioglu, S.4
Ozmenoglu, M.5
-
21
-
-
0036894940
-
X-linked bulbospinal neuronopathy: Kennedy disease
-
Sperfeld, A. D. and Karitzky, J. and Brummer, D. and Schreiber, H. and Haussler, J. and Ludolph, A. C. and et al. (2002) X-linked bulbospinal neuronopathy: Kennedy disease. Arch Neurol, 59, pp. 1921-6.
-
(2002)
Arch Neurol
, vol.59
, pp. 1921-1926
-
-
Sperfeld, A.D.1
Karitzky, J.2
Brummer, D.3
Schreiber, H.4
Haussler, J.5
Ludolph, A.C.6
-
22
-
-
0034255678
-
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: A clinical and molecular study of 30 families
-
Mariotti, C. and Castellotti, B. and Pareyson, D. and Testa, D. and Eoli, M. and Antozzi, C. and et al. (2000) Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: A clinical and molecular study of 30 families. Neuromuscul Disord, 10, pp. 391-7.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 391-397
-
-
Mariotti, C.1
Castellotti, B.2
Pareyson, D.3
Testa, D.4
Eoli, M.5
Antozzi, C.6
-
23
-
-
0029024458
-
Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects
-
Jöbsis, G. J. and Louwerse, E. S. and de Visser, M. and Wolterman, RA. and Bolhuis, PA. and Busch, HF. and et al. (1995) Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects. J Neurol Sci, 129((Suppl)), pp. 56-7.
-
(1995)
J Neurol Sci
, vol.129
, Issue.SUPPL.
, pp. 56-57
-
-
Jöbsis, G.J.1
Louwerse, E.S.2
de Visser, M.3
Wolterman, R.A.4
Bolhuis, P.A.5
Busch, H.F.6
-
24
-
-
0020457362
-
X-linked recessive bulbo-spinal neuronopathy: A report of ten cases
-
Harding, A. E. and Thomas, P. K. and Baraitser, M. and Bradbury, P. G. and Morgan-Hughes, J. A. and Ponsford, J. R. (1982) X-linked recessive bulbo-spinal neuronopathy: A report of ten cases. J Neurol Neurosurg Psychiatry, 45, pp. 1012-9.
-
(1982)
J Neurol Neurosurg Psychiatry
, vol.45
, pp. 1012-1019
-
-
Harding, A.E.1
Thomas, P.K.2
Baraitser, M.3
Bradbury, P.G.4
Morgan-Hughes, J.A.5
Ponsford, J.R.6
-
25
-
-
0025735846
-
Clinical and electrodiagnostic features of X-linked recessive bulbo-spinal neuronopathy
-
Olney, R. K. and Aminoff, M. J. and So, Y. T. (1991) Clinical and electrodiagnostic features of X-linked recessive bulbo-spinal neuronopathy. Neurology, 41, pp. 823-8.
-
(1991)
Neurology
, vol.41
, pp. 823-828
-
-
Olney, R.K.1
Aminoff, M.J.2
So, Y.T.3
-
26
-
-
20944448536
-
Distal spinal and bulbar muscular atrophy caused by dynactin mutation
-
Puls, I. and Oh, S. J. and Sumner, C. J. and Wallace, KE. and Floeter, MK. and Mann, EA. and et al. (2005) Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol, 57, pp. r687-94.
-
(2005)
Ann Neurol
, vol.57
-
-
Puls, I.1
Oh, S.J.2
Sumner, C.J.3
Wallace, K.E.4
Floeter, M.K.5
Mann, E.A.6
-
27
-
-
0027291710
-
Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbo-spinal neuronopathy
-
Sobue, G. and Doyu, M. and Kachi, T. and Yasuda, T. and Mukai, E. and Kumagai, T. and et al. (1993) Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbo-spinal neuronopathy. J Neurol Sci, 117, pp. 74-8.
-
(1993)
J Neurol Sci
, vol.117
, pp. 74-78
-
-
Sobue, G.1
Doyu, M.2
Kachi, T.3
Yasuda, T.4
Mukai, E.5
Kumagai, T.6
-
28
-
-
0034793311
-
Clinical features and skewed X-dash;chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy
-
Ishihara, H. and Kanda, F. and Nishio, H. and Sumino, K. and Chihara, K. (2001) Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy. J Neurol, 248, pp. 856-60.
-
(2001)
J Neurol
, vol.248
, pp. 856-860
-
-
Ishihara, H.1
Kanda, F.2
Nishio, H.3
Sumino, K.4
Chihara, K.5
-
29
-
-
0034043493
-
Triplet repeat expansion in neuromuscular disease
-
Lieberman, A. P. and Fischbeck, K. H. (2000) Triplet repeat expansion in neuromuscular disease. Muscle Nerve, 23, pp. 843-50.
-
(2000)
Muscle Nerve
, vol.23
, pp. 843-850
-
-
Lieberman, A.P.1
Fischbeck, K.H.2
-
30
-
-
0344009564
-
Trinucleotide repeat expansions: Timing is everything
-
Nag, D. K. (2003) Trinucleotide repeat expansions: Timing is everything. Trends Mol Med, 9, pp. 455-7.
-
(2003)
Trends Mol Med
, vol.9
, pp. 455-457
-
-
Nag, D.K.1
-
31
-
-
0029951497
-
Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
-
Spiegel, R. and La Spada, A. R. and Kress, W. and Fischbeck, K. H. and Schmid, W. (1996) Somatic stability of the expanded CAG trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Hum Mutat, 8, pp. 32-7.
-
(1996)
Hum Mutat
, vol.8
, pp. 32-37
-
-
Spiegel, R.1
La Spada, A.R.2
Kress, W.3
Fischbeck, K.H.4
Schmid, W.5
-
32
-
-
10344243027
-
Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene
-
Watanabe, M. and Abe, K. and Aoki, M. and Yasuo, K. and Itoyama, Y. and Shoji, M. and et al. (1996) Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene. Clin Genet, 50, pp. 133-7.
-
(1996)
Clin Genet
, vol.50
, pp. 133-137
-
-
Watanabe, M.1
Abe, K.2
Aoki, M.3
Yasuo, K.4
Itoyama, Y.5
Shoji, M.6
-
33
-
-
0033358560
-
Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor-gene expression level
-
Tanaka, F. and Reeves, M. F. and Ito, Y. and Matsumoto, M. and Li, M. and Miwa, S. and et al (1999) Tissue-specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG-repeat length and androgen receptor-gene expression level. Am J Hum Genet, 65, pp. 966-73.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 966-973
-
-
Tanaka, F.1
Reeves, M.F.2
Ito, Y.3
Matsumoto, M.4
Li, M.5
Miwa, S.6
-
34
-
-
0027503515
-
Kennedy's Disease: A clinicopathological correlation with mutations in the androgen receptor gene
-
Amato, A. A. and Prior, T. W. and Barohn, R. J. and Snyder, P. and Papp, A. and Mendell, J. R. (1993) Kennedy's Disease: A clinicopathological correlation with mutations in the androgen receptor gene. Neurology, 43, pp. 791-4.
-
(1993)
Neurology
, vol.43
, pp. 791-794
-
-
Amato, A.A.1
Prior, T.W.2
Barohn, R.J.3
Snyder, P.4
Papp, A.5
Mendell, J.R.6
-
35
-
-
0028843242
-
Abnormal androgen receptor binding affinity in subjects with Kennedy's Disease (spinal and bulbar muscular atrophy)
-
MacLean, H. E. and Choi, W. T. and Rekaris, G. and Warne, G. L. and Zajac, J. D. (1995) Abnormal androgen receptor binding affinity in subjects with Kennedy's Disease (spinal and bulbar muscular atrophy). J Clin Endocrinol Metab, 80, pp. 508-16.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 508-516
-
-
MacLean, H.E.1
Choi, W.T.2
Rekaris, G.3
Warne, G.L.4
Zajac, J.D.5
-
36
-
-
0031958969
-
Discordant repeat size and phenotype in Kennedy syndrome
-
Morrison, P. J. and Mirakhur, M. and Patterson, V. H. (1998) Discordant repeat size and phenotype in Kennedy syndrome. Clin Genet, 53, pp. 276-7.
-
(1998)
Clin Genet
, vol.53
, pp. 276-277
-
-
Morrison, P.J.1
Mirakhur, M.2
Patterson, V.H.3
-
37
-
-
0026621091
-
Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy
-
Igarashi, S. and Tanno, Y. and Onodera, O. and Yamazaki, M. and Sato, S. and Ishikawa, A. and et al. (1992) Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology, 42, pp. 2300-2.
-
(1992)
Neurology
, vol.42
, pp. 2300-2302
-
-
Igarashi, S.1
Tanno, Y.2
Onodera, O.3
Yamazaki, M.4
Sato, S.5
Ishikawa, A.6
-
38
-
-
0030661859
-
Atypical clinical presentations of X-linked spinal and bulbar muscular atrophy in patients with mild CAG expansions in androgen receptor gene
-
Igarashi, S. and Yonemochi, Y. and Tanaka, K. and Inuzuka, T. and Oyanagi, K. and Ikuta, F. and et al. (1997) Atypical clinical presentations of X-linked spinal and bulbar muscular atrophy in patients with mild CAG expansions in androgen receptor gene. Eur Neurol, 38, pp. 310-2.
-
(1997)
Eur Neurol
, vol.38
, pp. 310-312
-
-
Igarashi, S.1
Yonemochi, Y.2
Tanaka, K.3
Inuzuka, T.4
Oyanagi, K.5
Ikuta, F.6
-
39
-
-
0026456689
-
Severity of X-linked recessive bulbo-spinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene
-
Doyu, M. and Sobue, G. and Mukai, E. and Kachi, T. and Yasuda, T. and Mitsuma, T. and et al (1992) Severity of X-linked recessive bulbo-spinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol, 32, pp. 707-10.
-
(1992)
Ann Neurol
, vol.32
, pp. 707-710
-
-
Doyu, M.1
Sobue, G.2
Mukai, E.3
Kachi, T.4
Yasuda, T.5
Mitsuma, T.6
-
40
-
-
0028825176
-
X-linked recessive bulbo-spinal neuronopathy: Clinical phenotypes and CAG repeat size in androgen receptor gene
-
Shimada, N. and Sobue, G. and Doyu, M. and Yamamoto, K. and Yasuda, T. and Mukai, E. and et al. (1995) X-linked recessive bulbo-spinal neuronopathy: Clinical phenotypes and CAG repeat size in androgen receptor gene. Muscle Nerve, 18, pp. 1378-84.
-
(1995)
Muscle Nerve
, vol.18
, pp. 1378-1384
-
-
Shimada, N.1
Sobue, G.2
Doyu, M.3
Yamamoto, K.4
Yasuda, T.5
Mukai, E.6
-
41
-
-
0027023516
-
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
-
La Spada, A. R. and Roling, D. B. and Harding, A. E. and Warner, CL. and Spiegel, R. and Hausmanowa-Petrusewicz, I. and et al (1992) Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet, 2, pp. 301-4.
-
(1992)
Nat Genet
, vol.2
, pp. 301-304
-
-
La Spada, A.R.1
Roling, D.B.2
Harding, A.E.3
Warner, C.L.4
Spiegel, R.5
Hausmanowa-Petrusewicz, I.6
|