-
1
-
-
0028316870
-
A worldwide study of the Huntington's disease mutation: The sensitivity and specificity of measuring CAG repeats
-
Kremer B, Goldberg P, Andrew SE, et al. A worldwide study of the Huntington's disease mutation: the sensitivity and specificity of measuring CAG repeats. N Engl J Med 1994;330:1401-1406.
-
(1994)
N Engl J Med
, vol.330
, pp. 1401-1406
-
-
Kremer, B.1
Goldberg, P.2
Andrew, S.E.3
-
2
-
-
23444451921
-
Huntington disease without CAG expansion: Phenocopies or errors in assignment?
-
Andrew SE, Goldberg YP, Kremer B, et al. Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet 1994;54:852-863.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 852-863
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Kremer, B.3
-
3
-
-
0031817038
-
Patients with features similar to Huntington's disease, without CAG expansion in huntingtin
-
Rosenblatt A, Ranen NG, Rubinsztein DC, et al. Patients with features similar to Huntington's disease, without CAG expansion in huntingtin. Neurology 1998;51:215-220.
-
(1998)
Neurology
, vol.51
, pp. 215-220
-
-
Rosenblatt, A.1
Ranen, N.G.2
Rubinsztein, D.C.3
-
4
-
-
0034741742
-
A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion
-
Margolis RL, O'Hearn E, Rosenblatt A, et al. A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion. Ann Neurol 2001;50:373-380.
-
(2001)
Ann Neurol
, vol.50
, pp. 373-380
-
-
Margolis, R.L.1
O'Hearn, E.2
Rosenblatt, A.3
-
5
-
-
18344379670
-
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2
-
Holmes SE, O'Hearn E, Rosenblatt A, et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet 2001;29:377-378.
-
(2001)
Nat Genet
, vol.29
, pp. 377-378
-
-
Holmes, S.E.1
O'Hearn, E.2
Rosenblatt, A.3
-
6
-
-
0033636778
-
Junctophilins: A novel family of junctional membrane complex proteins
-
Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K. Junctophilins: a novel family of junctional membrane complex proteins. Mol Cell 2000;6:11-22.
-
(2000)
Mol Cell
, vol.6
, pp. 11-22
-
-
Takeshima, H.1
Komazaki, S.2
Nishi, M.3
Iino, M.4
Kangawa, K.5
-
7
-
-
0037046199
-
Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions
-
Walker RH, Morgello S, Davidoff-Feldman B, et al. Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology 2002;58:1031-1037.
-
(2002)
Neurology
, vol.58
, pp. 1031-1037
-
-
Walker, R.H.1
Morgello, S.2
Davidoff-Feldman, B.3
-
9
-
-
0141605228
-
Huntington's disease-like 2: A clinical, pathological, and molecular comparison to Huntington's disease
-
Margolis RL, Holmes SE. Huntington's disease-like 2: a clinical, pathological, and molecular comparison to Huntington's disease. Clin Neurosci Res 2003;3:187-196.
-
(2003)
Clin Neurosci Res
, vol.3
, pp. 187-196
-
-
Margolis, R.L.1
Holmes, S.E.2
-
11
-
-
34548472536
-
Huntington's disease-like 2: The first case report in Latin America in a patient without African ethnic origin
-
Teive HAG, Becker N, Munhoz RP, et al. Huntington's disease-like 2: the first case report in Latin America in a patient without African ethnic origin. Mov Disord 2007;22(Suppl 16):S27.
-
(2007)
Mov Disord
, vol.22
, Issue.SUPPL. 16
-
-
Teive, H.A.G.1
Becker, N.2
Munhoz, R.P.3
-
12
-
-
42049114293
-
Huntington disease-like 2: The first patient with apparent European ancestry
-
Santos C, Wanderley H, Vedolin L, Pena SDJ, Jardim L, Sequeiros J. Huntington disease-like 2: the first patient with apparent European ancestry. Clin Genet 2008;73:480-485.
-
(2008)
Clin Genet
, vol.73
, pp. 480-485
-
-
Santos, C.1
Wanderley, H.2
Vedolin, L.3
Pena, S.D.J.4
Jardim, L.5
Sequeiros, J.6
-
13
-
-
44449161332
-
Huntington's disease phenocopies are clinically and genetically heterogeneous
-
Wild EJ, Mudanohwo EE, Sweeney MG, et al. Huntington's disease phenocopies are clinically and genetically heterogeneous. Mov Disord 2008;23:716-720.
-
(2008)
Mov Disord
, vol.23
, pp. 716-720
-
-
Wild, E.J.1
Mudanohwo, E.E.2
Sweeney, M.G.3
-
14
-
-
37549040175
-
A South African mixed ancestry family with Huntington disease-like 2: Clinical and genetic features
-
Bardien S, Abrahams F, Soodyall H, et al. A South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features. Mov Disord 2007;22:2083-2089.
-
(2007)
Mov Disord
, vol.22
, pp. 2083-2089
-
-
Bardien, S.1
Abrahams, F.2
Soodyall, H.3
-
15
-
-
9144245757
-
Huntington's Disease- like 2 (HDL2) in North America and Japan
-
Margolis RL, Holmes SE, Rosenblatt A, et al. Huntington's Disease- like 2 (HDL2) in North America and Japan. Ann Neurol 2004;56:670-674.
-
(2004)
Ann Neurol
, vol.56
, pp. 670-674
-
-
Margolis, R.L.1
Holmes, S.E.2
Rosenblatt, A.3
-
16
-
-
78650869083
-
-
IBGE, The Brazilian Institute of Geography and Statistics, Available at
-
IBGE - The Brazilian Institute of Geography and Statistics. National Census, 2000. Available at: http://www.ibge.gov.br/home/presidencia/ noticias/20122002censo.shtm.
-
(2000)
National Census
-
-
-
17
-
-
85069402765
-
-
Krause A, Temlett J, Van der Meyden K, Ross CA, Callahan C, Margolis RL. CAG/CTG repeat expansions at the HDL2 locus are a common cause of Huntington disease in Black South Africans. Presented at the Annual Meeting of The American Society of Human Genetics, 15 October 2002, Baltimore, Maryland. (Abstract program number: 2098)
-
Krause A, Temlett J, Van der Meyden K, Ross CA, Callahan C, Margolis RL. CAG/CTG repeat expansions at the HDL2 locus are a common cause of Huntington disease in Black South Africans. Presented at the Annual Meeting of The American Society of Human Genetics, 15 October 2002, Baltimore, Maryland. (Abstract program number: 2098)
-
-
-
|