-
1
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet 1993; 4: 300-304.
-
(1993)
Nat Genet
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
Kawashima, S.4
Sakamoto, H.5
Karube, Y.6
-
2
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994; 8: 221-228.
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
-
3
-
-
26944459266
-
Fluorescent multiplex PCR - Fast method for autosomal dominant spinocerebellar ataxias screening
-
Bauer PO, Kotliarova SE, Matoska V, Musova Z, Hedvicakova P, Boday A, et al. Fluorescent multiplex PCR - fast method for autosomal dominant spinocerebellar ataxias screening. Genetika 2005; 41: 830-837.
-
(2005)
Genetika
, vol.41
, pp. 830-837
-
-
Bauer, P.O.1
Kotliarova, S.E.2
Matoska, V.3
Musova, Z.4
Hedvicakova, P.5
Boday, A.6
-
4
-
-
37849028591
-
Machado-Joseph disease enhances genetic fitness: A comparison between affected and unaffected women and between MJD and the general population
-
Prestes PR, Saraiva-Pereira ML, Silveira I, Sequeiros J, Jardim LB. Machado-Joseph disease enhances genetic fitness: a comparison between affected and unaffected women and between MJD and the general population. Ann Hum Genet 2008; 72: 57-64.
-
(2008)
Ann Hum Genet
, vol.72
, pp. 57-64
-
-
Prestes, P.R.1
Saraiva-Pereira, M.L.2
Silveira, I.3
Sequeiros, J.4
Jardim, L.B.5
-
5
-
-
0034856128
-
Machado-Joseph disease in South Brazil: Clinical and molecular characterization of kindreds
-
Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R. Machado-Joseph disease in South Brazil: clinical and molecular characterization of kindreds. Acta Neurol Scand 2001; 104: 224-231.
-
(2001)
Acta Neurol Scand
, vol.104
, pp. 224-231
-
-
Jardim, L.B.1
Pereira, M.L.2
Silveira, I.3
Ferro, A.4
Sequeiros, J.5
Giugliani, R.6
-
6
-
-
0027356605
-
Epidemiology and clinical aspects of Machado-Joseph disease
-
In: Harding A, Deufel T, Chamberlain S (Editors), New York: Raven Press
-
Sequeiros J, Coutinho P. Epidemiology and clinical aspects of Machado-Joseph disease. In: Harding A, Deufel T, Chamberlain S (Editors), Hereditary ataxias. Vol. 61. New York: Raven Press; 1993. p 139-153.
-
(1993)
Hereditary ataxias
, vol.61
, pp. 139-153
-
-
Sequeiros, J.1
Coutinho, P.2
-
8
-
-
16844384034
-
Linear high intensity area along the medial margin of the internal segment of the globus pallidus in Machado-Joseph disease patients
-
Yamada S, Nishimiya J, Nakajima T, Taketazu F. Linear high intensity area along the medial margin of the internal segment of the globus pallidus in Machado-Joseph disease patients. J Neurol Neurosurg Psychiatry 2005; 76: 573-575.
-
(2005)
J Neurol Neurosurg Psychiatry
, vol.76
, pp. 573-575
-
-
Yamada, S.1
Nishimiya, J.2
Nakajima, T.3
Taketazu, F.4
-
9
-
-
0022623282
-
Joseph's disease: Clinical and pathological studies in a Japanese family
-
Yuasa T, Ohama E, Harayama H, Yamada M, Kawase Y, Wakabayashi M, et al. Joseph's disease: clinical and pathological studies in a Japanese family. Ann Neurol 1986; 19: 152-157.
-
(1986)
Ann Neurol
, vol.19
, pp. 152-157
-
-
Yuasa, T.1
Ohama, E.2
Harayama, H.3
Yamada, M.4
Kawase, Y.5
Wakabayashi, M.6
-
10
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
-
Durr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996; 39: 490-499.
-
(1996)
Ann Neurol
, vol.39
, pp. 490-499
-
-
Durr, A.1
Stevanin, G.2
Cancel, G.3
Duyckaerts, C.4
Abbas, N.5
Didierjean, O.6
-
11
-
-
0033111229
-
Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations
-
Iwabuchi K, Tsuchiya K, Uchihara T, Yagishita S. Autosomal dominant spinocerebellar degenerations. Clinical, pathological, and genetic correlations. Rev Neurol 1999; 155: 255-270.
-
(1999)
Rev Neurol
, vol.155
, pp. 255-270
-
-
Iwabuchi, K.1
Tsuchiya, K.2
Uchihara, T.3
Yagishita, S.4
-
12
-
-
33845774797
-
Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives
-
Cecchin CR, Pires AP, Rieder CR, Monte TL, Silveira I, Carvalho T, et al. Depressive symptoms in Machado-Joseph disease (SCA3) patients and their relatives. Community Genet 2007; 10: 19-26.
-
(2007)
Community Genet
, vol.10
, pp. 19-26
-
-
Cecchin, C.R.1
Pires, A.P.2
Rieder, C.R.3
Monte, T.L.4
Silveira, I.5
Carvalho, T.6
-
13
-
-
36148943168
-
Validação da versão brasileira da medida de independência funcional
-
Riberto M, Miyazaki MH, Jucá SSH, Sakamoto H, Pinto PPN, Battistella LR. Validação da versão brasileira da medida de independência funcional. Acta Fisiatr 2004; 11: 72-76.
-
(2004)
Acta Fisiatr
, vol.11
, pp. 72-76
-
-
Riberto, M.1
Miyazaki, M.H.2
Jucá, S.S.H.3
Sakamoto, H.4
Pinto, P.P.N.5
Battistella, L.R.6
-
14
-
-
0002028917
-
Advances in functional assessment for rehabilitation
-
In: Rockville: Aspen
-
Granger CV, Hamilton BB, Keith RA, Zielezny M, Sherwin FS. Advances in functional assessment for rehabilitation. In: Anonymous, Topics in geriatric rehabilitation. Rockville: Aspen; 1986.
-
(1986)
Anonymous, Topics in geriatric rehabilitation
-
-
Granger, C.V.1
Hamilton, B.B.2
Keith, R.A.3
Zielezny, M.4
Sherwin, F.S.5
-
15
-
-
70450195021
-
Functional evaluation: The barthel index
-
Mahoney FI, Barthel DW. Functional evaluation: the Barthel index. Md State Med J 1965; 14: 61-65.
-
(1965)
Md State Med J
, vol.14
, pp. 61-65
-
-
Mahoney, F.I.1
Barthel, D.W.2
-
17
-
-
0034169505
-
Application of the Portuguese version of the abbreviated instrument of quality life WHOQOL-bref
-
Fleck MP, Louzada S, Xavier M, Chachamovich E, Vieira G, Santos L, et al. [Application of the Portuguese version of the abbreviated instrument of quality life WHOQOL-bref]. Rev Saúde Pública 2000; 34: 178-183.
-
(2000)
Rev Saúde Pública
, vol.34
, pp. 178-183
-
-
Fleck, M.P.1
Louzada, S.2
Xavier, M.3
Chachamovich, E.4
Vieira, G.5
Santos, L.6
-
18
-
-
0031775905
-
The WHOQOL group
-
Development of the World Health Organization WHOQOLBREF quality of life assessment
-
Development of the World Health Organization WHOQOLBREF quality of life assessment. The WHOQOL Group. Psychol Med 1998; 28: 551-558.
-
(1998)
Psychol Med
, vol.28
, pp. 551-558
-
-
-
19
-
-
41049088377
-
A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3)
-
Kieling C, Rieder C, Silva ACF, Saute JA, Cecchin CR, Monte TL, et al. A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3). Eur J Neurol 2008; 15: 371-376.
-
(2008)
Eur J Neurol
, vol.15
, pp. 371-376
-
-
Kieling, C.1
Rieder, C.2
Silva, A.C.F.3
Saute, J.A.4
Cecchin, C.R.5
Monte, T.L.6
-
20
-
-
33745677486
-
Scale for the assessment and rating of ataxia: Development of a new clinical scale
-
Schmitz-Hubsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006; 66: 1717-1720.
-
(2006)
Neurology
, vol.66
, pp. 1717-1720
-
-
Schmitz-Hubsch, T.1
du Montcel, S.T.2
Baliko, L.3
Berciano, J.4
Boesch, S.5
Depondt, C.6
-
21
-
-
77953923008
-
Theoretical frameworks
-
In: Turner A, Foster M, Johnson S (Editors), 5th edn. Amsterdam: Elsevier
-
Foster M. Theoretical frameworks. In: Turner A, Foster M, Johnson S (Editors), Occupational therapy and physical dysfunction. 5th edn. Amsterdam: Elsevier; 2002.
-
(2002)
Occupational therapy and physical dysfunction
-
-
Foster, M.1
-
22
-
-
45149108691
-
Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease
-
Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, et al. Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 439-446.
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147 B
, pp. 439-446
-
-
Martins, S.1
Coutinho, P.2
Silveira, I.3
Giunti, P.4
Jardim, L.B.5
Calafell, F.6
-
23
-
-
10444234195
-
Effects of a physical training program on quantitative neurological indices in mild stage type 2 spinocerebellar ataxia patients
-
Perez-Avila I, Fernandez-Vieitez JA, Martinez-Gongora E, Ochoa-Mastrapa R, Velazquez-Manresa MG. [Effects of a physical training program on quantitative neurological indices in mild stage type 2 spinocerebellar ataxia patients]. Rev Neurol 2004; 39: 907-910.
-
(2004)
Rev Neurol
, vol.39
, pp. 907-910
-
-
Perez-Avila, I.1
Fernandez-Vieitez, J.A.2
Martinez-Gongora, E.3
Ochoa-Mastrapa, R.4
Velazquez-Manresa, M.G.5
-
24
-
-
0035713274
-
Type 2 spinocerebellar ataxia: An experience in psychological rehabilitation
-
Paneque HM, Reynaldo AR, Velazquez PL, Santos FN, Miranda HE, Real PN, et al. [Type 2 spinocerebellar ataxia: an experience in psychological rehabilitation]. Rev Neurol 2001; 33: 1001-1005.
-
(2001)
Rev Neurol
, vol.33
, pp. 1001-1005
-
-
Paneque, H.M.1
Reynaldo, A.R.2
Velazquez, P.L.3
Santos, F.N.4
Miranda, H.E.5
Real, P.N.6
-
25
-
-
33846635034
-
Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy
-
Rub U, Seidel K, Ozerden I, Gierga K, Brunt ER, Schols L, et al. Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy. Brain Res Rev 2007; 53: 235-249.
-
(2007)
Brain Res Rev
, vol.53
, pp. 235-249
-
-
Rub, U.1
Seidel, K.2
Ozerden, I.3
Gierga, K.4
Brunt, E.R.5
Schols, L.6
-
26
-
-
0037356081
-
Use of fluoxetine for treatment of Machado-Joseph disease: An open-label study
-
Monte TL, Rieder CR, Tort AB, Rockenback I, Pereira ML, Silveira I, et al. Use of fluoxetine for treatment of Machado-Joseph disease: an open-label study. Acta Neurol Scand 2003; 107: 207-210.
-
(2003)
Acta Neurol Scand
, vol.107
, pp. 207-210
-
-
Monte, T.L.1
Rieder, C.R.2
Tort, A.B.3
Rockenback, I.4
Pereira, M.L.5
Silveira, I.6
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