-
1
-
-
0028141691
-
A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q
-
Takiyama, Y., Oyanagi, S., Kawashima, S., Sakamoto, H., Saito, K., Yoshida, M., Tsuji, S., Mizuno, Y. and Mshizawa, M. (1994) A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology, 44, 1302-1308.
-
(1994)
Neurology
, vol.44
, pp. 1302-1308
-
-
Takiyama, Y.1
Oyanagi, S.2
Kawashima, S.3
Sakamoto, H.4
Saito, K.5
Yoshida, M.6
Tsuji, S.7
Mizuno, Y.8
Mshizawa, M.9
-
2
-
-
0015251021
-
Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts
-
Nakano, K.K., Dawson, D.M. and Spence, A. (1972) Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology, 22, 49-55.
-
(1972)
Neurology
, vol.22
, pp. 49-55
-
-
Nakano, K.K.1
Dawson, D.M.2
Spence, A.3
-
3
-
-
0015412724
-
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: A unique and partially treatable clinicopathological entity
-
Woods, B.T. and Schaumburg, H.H. (1972) Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinicopathological entity. J. Neurol. Sci., 17, 149-166.
-
(1972)
J. Neurol. Sci.
, vol.17
, pp. 149-166
-
-
Woods, B.T.1
Schaumburg, H.H.2
-
4
-
-
0017117382
-
Autosomal dominant striatonigral degeneration: A clinical, pathologic, and biochemical study of a new genetic disorder
-
Rosenberg, R.N., Nyhan, W.L., Bay, C. and Shore, P. (1976) Autosomal dominant striatonigral degeneration: a clinical, pathologic, and biochemical study of a new genetic disorder. Neurology, 26, 703-714.
-
(1976)
Neurology
, vol.26
, pp. 703-714
-
-
Rosenberg, R.N.1
Nyhan, W.L.2
Bay, C.3
Shore, P.4
-
5
-
-
0027356605
-
Epidemiology and clinical aspects of Machado-Joseph disease
-
Sequeiros, J. and Coutinho, P. (1993) Epidemiology and clinical aspects of Machado-Joseph disease. Adv. Neurol., 61, 139-153.
-
(1993)
Adv. Neurol.
, vol.61
, pp. 139-153
-
-
Sequeiros, J.1
Coutinho, P.2
-
6
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama, Y., Nishizawa, M., Tanaka, H., Kawashima, S., Sakamoto, H., Karube, Y., Shimazaki, H., Soutome, M., Endo, K., Ohta, S., Kagawa, Y., Kanazawa, I., Mizuno, Y., Yoshida, M., Yuasa, T., Horikawa, Y., Oyanagi, K., Nagai, H., Kondo, T., Inuzuka, T., Onodera, O. and Tsuji, S. (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet., 4, 300-304.
-
(1993)
Nature Genet.
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
Kawashima, S.4
Sakamoto, H.5
Karube, Y.6
Shimazaki, H.7
Soutome, M.8
Endo, K.9
Ohta, S.10
Kagawa, Y.11
Kanazawa, I.12
Mizuno, Y.13
Yoshida, M.14
Yuasa, T.15
Horikawa, Y.16
Oyanagi, K.17
Nagai, H.18
Kondo, T.19
Inuzuka, T.20
Onodera, O.21
Tsuji, S.22
more..
-
7
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q 32.1
-
Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S., Kawakami, H., Nakamura, S., Nishimura, M., Akiguchi, I., Kimura, J., Narumiya, S. and Kakizuka, A. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q 32.1. Nature Genet., 8, 221-227.
-
(1994)
Nature Genet.
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
Kimura, J.11
Narumiya, S.12
Kakizuka, A.13
-
8
-
-
0029009456
-
Evidence for inter-generational instability in the CAG repeat in the MJDI gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
-
Takiyama, Y., Igarashi, S., Rogaeva, E.A., Endo, K., Rogaev, E.I., Tanaka, H., Sherrington, R., Sanpei, K., Liang, Y., Saito, M., Tsuda, T., Takano, H., Ikeda, M., Lin, C., Chi, H., Kennedy, J.L., Lang, A.E., Wherrett, J.R., Segawa, M., Nomura, Y., Yuasa, T., Weissenbach, J., Yoshida, M., Nishizawa, M., Kidd, K.K., Tsuji, S. and St George-Hyslop, P. (1995) Evidence for inter-generational instability in the CAG repeat in the MJDI gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum. Mol. Genet., 4, 1137-1146.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
Endo, K.4
Rogaev, E.I.5
Tanaka, H.6
Sherrington, R.7
Sanpei, K.8
Liang, Y.9
Saito, M.10
Tsuda, T.11
Takano, H.12
Ikeda, M.13
Lin, C.14
Chi, H.15
Kennedy, J.L.16
Lang, A.E.17
Wherrett, J.R.18
Segawa, M.19
Nomura, Y.20
Yuasa, T.21
Weissenbach, J.22
Yoshida, M.23
Nishizawa, M.24
Kidd, K.K.25
Tsuji, S.26
St George-Hyslop, P.27
more..
-
9
-
-
2442761245
-
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJDI) is affected by the genotype of the normal chromosome: Implication for the molecular mechanisms of the instability of the CAG repeat
-
Igarashi, S., Takiyama, Y., Cancel, G., Rogaeva, E.A., Sasaki, H., Wakisaka, A., Zhou, Y.X., Takano, H., Endo, K., Sanpei, K., Oyake, M., Tanaka, H., Stevanin, G., Abbas, N., Dürr, A., Rogaev, E.I., Sherrington, R., Tsuda, T., Ikeda, M., Cassa, E., Nishizawa, M., Benomar, A., Julien, J., Weissenbach, J., Wang, G.X., Agid, Y., St. George-Hyslop, P.M., Brice, A. and Tsuji, S. (1996) Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJDI) is affected by the genotype of the normal chromosome: implication for the molecular mechanisms of the instability of the CAG repeat. Hum. Mol. Genet., 5, 923-932.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 923-932
-
-
Igarashi, S.1
Takiyama, Y.2
Cancel, G.3
Rogaeva, E.A.4
Sasaki, H.5
Wakisaka, A.6
Zhou, Y.X.7
Takano, H.8
Endo, K.9
Sanpei, K.10
Oyake, M.11
Tanaka, H.12
Stevanin, G.13
Abbas, N.14
Dürr, A.15
Rogaev, E.I.16
Sherrington, R.17
Tsuda, T.18
Ikeda, M.19
Cassa, E.20
Nishizawa, M.21
Benomar, A.22
Julien, J.23
Weissenbach, J.24
Wang, G.X.25
Agid, Y.26
St. George-Hyslop, P.M.27
Brice, A.28
Tsuji, S.29
more..
-
10
-
-
0029865956
-
Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: The mutant allele is preferentially transmitted in male meiosis
-
Ikeuchi, T., Igarashi, S., Takiyama, Y., Onodera, O., Oyake, M., Takano, H., Koide, R., Tanaka, H. and Tsuji, S. (1996) Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis. Am. J. Hum. Genet., 58, 730-733.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 730-733
-
-
Ikeuchi, T.1
Igarashi, S.2
Takiyama, Y.3
Onodera, O.4
Oyake, M.5
Takano, H.6
Koide, R.7
Tanaka, H.8
Tsuji, S.9
-
11
-
-
0029084074
-
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum
-
Leeflang, E.P., Zhang, L., Tavare, S., Hubert, R., Srinidhi, J., MacDonald, M.E., Myers, R.H., de Yong, M., Wexler, N.S., Gusella, J.F. and Arnheim, N. (1995) Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum. Hum. Mol. Genet., 4, 1519-1526.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1519-1526
-
-
Leeflang, E.P.1
Zhang, L.2
Tavare, S.3
Hubert, R.4
Srinidhi, J.5
MacDonald, M.E.6
Myers, R.H.7
De Yong, M.8
Wexler, N.S.9
Gusella, J.F.10
Arnheim, N.11
-
12
-
-
0028890669
-
Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
-
Wong, L.J.C., Ashizawa T., Monckton, D.G., Caskey, C.T. and Richards, C.S. (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am. J. Hum. Genet., 56, 114-122.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 114-122
-
-
Wong, L.J.C.1
Ashizawa, T.2
Monckton, D.G.3
Caskey, C.T.4
Richards, C.S.5
-
13
-
-
0028925739
-
CAG repeat length variation in sperm from a patient with Kennedy's disease
-
Zhang, L., Fischbeck, K.H. and Arnheim, N. (1995) CAG repeat length variation in sperm from a patient with Kennedy's disease. Hum. Mol. Genet., 4, 303-305.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 303-305
-
-
Zhang, L.1
Fischbeck, K.H.2
Arnheim, N.3
-
14
-
-
0029035710
-
Gametic and somatic tissue-specific heterogeneity of the expanded SCAI CAG repeat in spinocerebellar ataxia type 1
-
Chong, S.S., McCall, A.E., Cota, J., Subramony, S.H., Orr, H.T., Hughes, M.R. and Zoghbi, H.Y. (1995) Gametic and somatic tissue-specific heterogeneity of the expanded SCAI CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 10, 344-350.
-
(1995)
Nature 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
Hughes, M.R.6
Zoghbi, H.Y.7
-
15
-
-
0028873248
-
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
-
Monckton, D.G., Wong, L.J.C., Ashizawa, T. and Caskey, C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet., 4, 1-8.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1-8
-
-
Monckton, D.G.1
Wong, L.J.C.2
Ashizawa, T.3
Caskey, C.T.4
-
16
-
-
0028058252
-
Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring
-
Ashizawa, T., Dunne, P.W., Ward, P.A., Seltzer, W.K. and Richards, C.S. (1994) Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology, 44, 120-122.
-
(1994)
Neurology
, vol.44
, pp. 120-122
-
-
Ashizawa, T.1
Dunne, P.W.2
Ward, P.A.3
Seltzer, W.K.4
Richards, C.S.5
-
17
-
-
0028592675
-
Meiotic drive at the myotonic dystrophy locus
-
Gennarelli, M., Dallapiccola, B., Baiget, M., Martorell, L. and Novelli, G. (1994) Meiotic drive at the myotonic dystrophy locus. J. Med. Genet., 31, 980.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 980
-
-
Gennarelli, M.1
Dallapiccola, B.2
Baiget, M.3
Martorell, L.4
Novelli, G.5
-
18
-
-
0028321831
-
Meiotic drive at the myotonic dystrophy locus?
-
Carrey, N., Johnson, K., Nokelainen, P., Peltonen, L., Savontaus, M.L., Juvonen, V., Anvrer, M., Grandell, U., Chotai, K., Robertson, E., Middleton-Price, H. and Malcolm, S. (1994) Meiotic drive at the myotonic dystrophy locus? Nature Genet., 6, 117-118.
-
(1994)
Nature Genet.
, vol.6
, pp. 117-118
-
-
Carrey, N.1
Johnson, K.2
Nokelainen, P.3
Peltonen, L.4
Savontaus, M.L.5
Juvonen, V.6
Anvrer, M.7
Grandell, U.8
Chotai, K.9
Robertson, E.10
Middleton-Price, H.11
Malcolm, S.12
-
19
-
-
0027511450
-
Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission
-
O'Hoy, K.L., Tsilfidis, C., Mahadevan, M.S., Neville, C.E., Barcelo, J., Hunter, A.G.W. and Korneluk, R.G. (1993) Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science, 259, 809-812.
-
(1993)
Science
, vol.259
, pp. 809-812
-
-
O'Hoy, K.L.1
Tsilfidis, C.2
Mahadevan, M.S.3
Neville, C.E.4
Barcelo, J.5
Hunter, A.G.W.6
Korneluk, R.G.7
-
20
-
-
0027473897
-
Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counselling and genetic anticipation
-
Hunter, A.G.W., Jacob, P., O'Hoy, K.L., MacDonald, I., Matter, G., Tsilfidis, C. and Korneluk, R.G. (1993) Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation. Am. J. Med. Genet., 45, 401-407.
-
(1993)
Am. J. Med. Genet.
, vol.45
, pp. 401-407
-
-
Hunter, A.G.W.1
Jacob, P.2
O'Hoy, K.L.3
MacDonald, I.4
Matter, G.5
Tsilfidis, C.6
Korneluk, R.G.7
-
21
-
-
0028102488
-
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes
-
Ouweland, A.M.W., Deelen, W.H., Kunst, C.B., Uzielli, M.L.G., Nelson, D.L., Warren, S.T., Oostra, B.A. and Halley, D.J.J. (1994) Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum. Mol. Genet., 3, 1823-1827.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1823-1827
-
-
Ouweland, A.M.W.1
Deelen, W.H.2
Kunst, C.B.3
Uzielli, M.L.G.4
Nelson, D.L.5
Warren, S.T.6
Oostra, B.A.7
Halley, D.J.J.8
-
22
-
-
0004136246
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
Maniatis, T., Fritsch, E.F. and Sambrook, J. (1989) Molecular Cloning: A Laboratory Manual. 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
-
(1989)
Molecular Cloning: A Laboratory Manual. 2nd Edn.
-
-
Maniatis, T.1
Fritsch, E.F.2
Sambrook, J.3
-
23
-
-
0028364565
-
Complex gene conversion events in germline mutation at human minisatellites
-
Jeffreys, A.J., Tamaki, K., MacLeod, A., Monckton, D.G., Neil, D.L. and Armour, J.A.L. (1994) Complex gene conversion events in germline mutation at human minisatellites. Nature Genet., 6, 136-145.
-
(1994)
Nature Genet.
, vol.6
, pp. 136-145
-
-
Jeffreys, A.J.1
Tamaki, K.2
MacLeod, A.3
Monckton, D.G.4
Neil, D.L.5
Armour, J.A.L.6
-
24
-
-
0003505215
-
-
Academic Press
-
Innis, M.A., Gelfand, D.H., Sninsky, J.J. and White, T.J. (1990) PCR Protocols: A Guide to Methods and Applications. Academic Press.
-
(1990)
PCR Protocols: A Guide to Methods and Applications
-
-
Innis, M.A.1
Gelfand, D.H.2
Sninsky, J.J.3
White, T.J.4
-
25
-
-
0024399081
-
Single-sperm typing: Determination of genetic distance between the Gγ-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers
-
Cui, X., Li, H., Goradia, T.M., Lange, K., Kazazian, J.H.H., Galas, D. and Arnheim, N. (1989) Single-sperm typing: determination of genetic distance between the Gγ-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc. Natl Acad. Sci. USA, 86, 9389-9393.
-
(1989)
Proc. Natl Acad. Sci. USA
, vol.86
, pp. 9389-9393
-
-
Cui, X.1
Li, H.2
Goradia, T.M.3
Lange, K.4
Kazazian, J.H.H.5
Galas, D.6
Arnheim, N.7
-
26
-
-
0027982427
-
Studying human mutations by sperm typing: Instability of CAG trinucleotide repeats in the human androgen receptor gene
-
Zhang, L., Leeflang, E.P., Yu, J. and Arnheim, N. (1994) Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene. Nature Genet., 7, 531-535.
-
(1994)
Nature Genet.
, vol.7
, pp. 531-535
-
-
Zhang, L.1
Leeflang, E.P.2
Yu, J.3
Arnheim, N.4
|