-
1
-
-
0014310582
-
Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait
-
Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968;18:671-80.
-
(1968)
Neurology
, vol.18
, pp. 671-680
-
-
Kennedy, W.R.1
Alter, M.2
Sung, J.H.3
-
2
-
-
0030911169
-
Trinucleotide repeat disorders
-
Harper PS. Trinucleotide repeat disorders. J Inherit Metab Dis 1997; 20:122-4.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 122-124
-
-
Harper, P.S.1
-
3
-
-
0030049356
-
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family
-
Guidetti D, Vescovini E, Motti L, et al. X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. J Neurol Sci 1996;135:140-8.
-
(1996)
J Neurol Sci
, vol.135
, pp. 140-148
-
-
Guidetti, D.1
Vescovini, E.2
Motti, L.3
-
4
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-9.
-
(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
-
5
-
-
0026456909
-
Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy
-
Belsham DD, Yee WC, Greenberg CR, Wrogemann K. Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy. J Neurol Sci 1992; 112:133-8.
-
(1992)
J Neurol Sci
, vol.112
, pp. 133-138
-
-
Belsham, D.D.1
Yee, W.C.2
Greenberg, C.R.3
Wrogemann, K.4
-
6
-
-
0027583666
-
Kennedy's disease: Genetic diagnosis of an inherited form of motor neuron disease
-
Choi WT, MacLean HE, Chu S, Warne GL, Zajac JD. Kennedy's disease: genetic diagnosis of an inherited form of motor neuron disease. Aust NZ J Med 1993;23:187-92.
-
(1993)
Aust NZ J Med
, vol.23
, pp. 187-192
-
-
Choi, W.T.1
MacLean, H.E.2
Chu, S.3
Warne, G.L.4
Zajac, J.D.5
-
7
-
-
0028080406
-
Trinucleotide repeat expansion in neurological disease
-
La Spada AR, Paulson HL, Fischbeck KH. Trinucleotide repeat expansion in neurological disease. Ann Neurol 1994;36:814-22.
-
(1994)
Ann Neurol
, vol.36
, pp. 814-822
-
-
La Spada, A.R.1
Paulson, H.L.2
Fischbeck, K.H.3
-
8
-
-
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, Tanno Y, Onodera O, et al. 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 1992;42:2300-2.
-
(1992)
Neurology
, vol.42
, pp. 2300-2302
-
-
Igarashi, S.1
Tanno, Y.2
Onodera, O.3
-
9
-
-
0027503515
-
Kennedy's disease: A clinicopathologic correlation with mutations in the androgen receptor gene
-
Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR. Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. Neurology 1993;43:791-4.
-
(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
-
10
-
-
0031958969
-
Discordant repeat size and phenotype in Kennedy syndrome
-
Morrison PJ, Mirakhur M, Patterson VH. Discordant repeat size and phenotype in Kennedy syndrome. Clin Genet 1998;53:276-7.
-
(1998)
Clin Genet
, vol.53
, pp. 276-277
-
-
Morrison, P.J.1
Mirakhur, M.2
Patterson, V.H.3
-
11
-
-
0034327660
-
Pitfalls in the diagnosis of motor neurone disease
-
Hardiman O. Pitfalls in the diagnosis of motor neurone disease. Hosp Med 2000;61:767-71.
-
(2000)
Hosp Med
, vol.61
, pp. 767-771
-
-
Hardiman, O.1
-
12
-
-
0030026082
-
Avoiding false positive diagnoses of motor neuron disease: Lessons from the Scottish Motor Neuron Disease Register
-
Davenport RJ, Swingler RJ, Chancellor AM, Warlow CP. Avoiding false positive diagnoses of motor neuron disease: lessons from the Scottish Motor Neuron Disease Register. J Neurol Neurosurg Psychiatry 1996;60:147-51.
-
(1996)
J Neurol Neurosurg Psychiatry
, vol.60
, pp. 147-151
-
-
Davenport, R.J.1
Swingler, R.J.2
Chancellor, A.M.3
Warlow, C.P.4
-
13
-
-
0030798569
-
Spinobulbar muscular atrophy can mimic ALS: The importance of genetic testing in male patients with atypical ALS
-
Parboosingh JS, Figlewicz DA, Krizus A, et al. Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS. Neurology 1997;49:568-72.
-
(1997)
Neurology
, vol.49
, pp. 568-572
-
-
Parboosingh, J.S.1
Figlewicz, D.A.2
Krizus, A.3
-
14
-
-
0034885164
-
Cervical spondylotic myopathy and Kennedy syndrome mimicking amyotrophic lateral sclerosis
-
Fischer D, Wullner U, Klockgether T, Schroder R, Wilhelm K. Cervical spondylotic myopathy and Kennedy syndrome mimicking amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2001; 71:414.
-
(2001)
J Neurol Neurosurg Psychiatry
, vol.71
, pp. 414
-
-
Fischer, D.1
Wullner, U.2
Klockgether, T.3
Schroder, R.4
Wilhelm, K.5
-
15
-
-
0020584152
-
A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated tesficular failure
-
Arbizu T, Santamaria J, Gomez JM, Quilez A, Serra JP. A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated tesficular failure. J Neurol Sci 1983;59:371-82.
-
(1983)
J Neurol Sci
, vol.59
, pp. 371-382
-
-
Arbizu, T.1
Santamaria, J.2
Gomez, J.M.3
Quilez, A.4
Serra, J.P.5
-
16
-
-
0030694396
-
Long polyglutamine tracts in the androgen receptor are associated with reduced transactivation, impaired sperm production, and male infertility
-
Tut TG, Ghadessy FJ, Trifiro MA, Pinsky L, Yong EL. Long polyglutamine tracts in the androgen receptor are associated with reduced transactivation, impaired sperm production, and male infertility. J Clin Endocrinol Metab 1997;82:3777-82.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3777-3782
-
-
Tut, T.G.1
Ghadessy, F.J.2
Trifiro, M.A.3
Pinsky, L.4
Yong, E.L.5
-
17
-
-
0024999659
-
X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia
-
Warner CL, Servidei S, Lange DJ, Miller E, Lovelace RE, Rowland LP. X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia. Arch Neurol 1990;47:1117-20.
-
(1990)
Arch Neurol
, vol.47
, pp. 1117-1120
-
-
Warner, C.L.1
Servidei, S.2
Lange, D.J.3
Miller, E.4
Lovelace, R.E.5
Rowland, L.P.6
-
18
-
-
0033803705
-
Inappropriate genetic testing of children
-
Fryer A. Inappropriate genetic testing of children. Arch Dis Child 2000; 83:283-5.
-
(2000)
Arch Dis Child
, vol.83
, pp. 283-285
-
-
Fryer, A.1
|