-
1
-
-
0028181319
-
A physical map across chromosome 11q22-q23 containing the major locus for ataxia telangiectasia
-
Ambrose HJ, Byrd PJ, McConville CM, Cooper PR, Stankovic T, et al. 1994. A physical map across chromosome 11q22-q23 containing the major locus for ataxia telangiectasia. Genomics 21:612-19
-
(1994)
Genomics
, vol.21
, pp. 612-619
-
-
Ambrose, H.J.1
Byrd, P.J.2
McConville, C.M.3
Cooper, P.R.4
Stankovic, T.5
-
2
-
-
0020584152
-
A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure
-
Arbizu T, Santamaria J, Gomez JM, Quilez A, Serra JP. 1983. A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure. J. Neurol. Sci. 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
-
3
-
-
0030058227
-
Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Scal)
-
Banfi S, Servadio A, Chung M-y, Capozzoli F, Duvick LA, et al. 1996. Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Scal). Hum. Mol. Genet. 5:33-40
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 33-40
-
-
Banfi, S.1
Servadio, A.2
Chung, M.-Y.3
Capozzoli, F.4
Duvick, L.A.5
-
4
-
-
0028017992
-
Identification and characterization of the gene causing type 1 spinocerebellar ataxia
-
Banfi S, Servadio A, Chung M-y, Kwiatkowski TJ Jr, McCall AE, et al. 1994. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat. Genet. 7:513-19
-
(1994)
Nat. Genet.
, vol.7
, pp. 513-519
-
-
Banfi, S.1
Servadio, A.2
Chung, M.-Y.3
Kwiatkowski Jr., T.J.4
McCall, A.E.5
-
5
-
-
0031714729
-
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
-
Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, et al. 1998. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 51:1081-86
-
(1998)
Neurology
, vol.51
, pp. 1081-1086
-
-
Benton, C.S.1
De Silva, R.2
Rutledge, S.L.3
Bohlega, S.4
Ashizawa, T.5
-
6
-
-
0029664992
-
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
-
Burke JR, Enghild JJ, Martin ME, Jou Y-S, Myers RM, et al. 1996. Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nat. Med. 2(3):347-50
-
(1996)
Nat. Med.
, vol.2
, Issue.3
, pp. 347-350
-
-
Burke, J.R.1
Enghild, J.J.2
Martin, M.E.3
Jou, Y.-S.4
Myers, R.M.5
-
7
-
-
0028169738
-
The Haw River syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family
-
Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, et al. 1994. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat. Genet. 7:521-24
-
(1994)
Nat. Genet.
, vol.7
, pp. 521-524
-
-
Burke, J.R.1
Wingfield, M.S.2
Lewis, K.E.3
Roses, A.D.4
Lee, J.E.5
-
8
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, et al. 1995. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82:937-48
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
Clark, H.B.2
Servadio, A.3
Matilla, T.4
Feddersen, R.M.5
-
9
-
-
0031985869
-
Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy
-
Butler R, Leigh PN, McPhaul MJ, Gallo JM. 1998. Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy. Hum. Mol. Genet. 7(1):121-27
-
(1998)
Hum. Mol. Genet.
, vol.7
, Issue.1
, pp. 121-127
-
-
Butler, R.1
Leigh, P.N.2
McPhaul, M.J.3
Gallo, J.M.4
-
10
-
-
0029026638
-
Structure and function of voltage-gated ion channels
-
Catterall WA. 1995. Structure and function of voltage-gated ion channels. Annu. Rev. Biochem. 64:493-531
-
(1995)
Annu. Rev. Biochem.
, vol.64
, pp. 493-531
-
-
Catterall, W.A.1
-
11
-
-
0033030565
-
Evidence for proteasome involvement in polyglutamine disease: Localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro
-
Chai Y, Koppenhafer SL, Shoesmith SJ, Perez MK, Paulson HL. 1999. Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro. Hum. Mol. Genet. 8(4):673-82
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.4
, pp. 673-682
-
-
Chai, Y.1
Koppenhafer, S.L.2
Shoesmith, S.J.3
Perez, M.K.4
Paulson, H.L.5
-
12
-
-
0000522537
-
Crystal structure of a dimeric chymotrypsin inhibitor 2 mutant containing an inserted glutamine repeat
-
Chen YW, Stott K, Perutz MF. 1999. Crystal structure of a dimeric chymotrypsin inhibitor 2 mutant containing an inserted glutamine repeat. Proc. Natl. Acad. Sci. USA 96(4):1257-61
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, Issue.4
, pp. 1257-1261
-
-
Chen, Y.W.1
Stott, K.2
Perutz, M.F.3
-
13
-
-
0029035710
-
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
-
Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, et al. 1995. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 10:344-50
-
(1995)
Nat. Genet.
, vol.10
, pp. 344-350
-
-
Chong, S.S.1
McCall, A.E.2
Cota, J.3
Subramony, S.H.4
Orr, H.T.5
|