-
2
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
-
Aslanidis, C., Jansen, G., Amemiya, C., Shutler, G., Mahadevan, M., Tsilfidis, C., Chen, C., Alleman, J., Wormskamp, N.G.M., Vooijs, M., Buxton, J., Johnson, K., Smeets, H.J.M., Lennon, G.G., Carrano, A.V., Korneluk, R.G., Wieringa, B. and de Jong, P.J. (1992) Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature, 355, 548-551.
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
Jansen, G.2
Amemiya, C.3
Shutler, G.4
Mahadevan, M.5
Tsilfidis, C.6
Chen, C.7
Alleman, J.8
Wormskamp, N.G.M.9
Vooijs, M.10
Buxton, J.11
Johnson, K.12
Smeets, H.J.M.13
Lennon, G.G.14
Carrano, A.V.15
Korneluk, R.G.16
Wieringa, B.17
De Jong, P.J.18
-
3
-
-
0026566108
-
Molecular basis of myotonic dystrophy-expansion of a trinudeotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook, J.D., McCurrach, M.E., Harley, H.G., Buckler, A.J., Church, D., Aburatani, H., Hunter, K., Stanton, V.P., Thirion, J.P., Hudson, T., Sohn, R., Zemelman, B., Snell, R.G., Rundle, S.A., Crow, S., Davies, J., Shelbourne, P., Buxton, J., Jones, C., Juvonen, V., Johnson, K., Harper, P.S., Shaw, D.J. and Housman, D.E. (1992) Molecular basis of myotonic dystrophy-expansion of a trinudeotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell, 68, 799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburatani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.P.9
Hudson, T.10
Sohn, R.11
Zemelman, B.12
Snell, R.G.13
Rundle, S.A.14
Crow, S.15
Davies, J.16
Shelbourne, P.17
Buxton, J.18
Jones, C.19
Juvonen, V.20
Johnson, K.21
Harper, P.S.22
Shaw, D.J.23
Housman, D.E.24
more..
-
4
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton, J., Shelbourne, P., Davies, J., Jones, C., Van Tongeren, T., Aslanidis, C., de Jong, P., Jansen, G., Anvret, M., Riley, B., Williamson, R. and Johnson, K. (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature, 355, 547-548.
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
Jones, C.4
Van Tongeren, T.5
Aslanidis, C.6
De Jong, P.7
Jansen, G.8
Anvret, M.9
Riley, B.10
Williamson, R.11
Johnson, K.12
-
5
-
-
0026598119
-
An unstable repeat in a gene related to myotonic muscular dystrophy
-
Fu, Y.H., Pizzuti, A., Fenwick, R.G. Jr, King, J., Rsinsrsysn, S., Dunne, P.W., Dubel, J., Nasser, G.A., Ashizawa, T., de Jong, P., Wieringa, B., Korneluk, R., Ferryman, M.B., Epstein, H.F. and Caskey, C.T. (1992) An unstable repeat in a gene related to myotonic muscular dystrophy. Science, 255, 1256-1258.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwick Jr., R.G.3
King, J.4
Rsinsrsysn, S.5
Dunne, P.W.6
Dubel, J.7
Nasser, G.A.8
Ashizawa, T.9
De Jong, P.10
Wieringa, B.11
Korneluk, R.12
Ferryman, M.B.13
Epstein, H.F.14
Caskey, C.T.15
-
6
-
-
0026601924
-
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
-
Harley, G.H., Brook, J.D., Shelley, A.R., Crow, S., Reardon, W., Buckler, A.J., Harper, P.S., Housman, D.E. and Shaw, D.J. (1992) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature, 355, 545-546.
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Harley, G.H.1
Brook, J.D.2
Shelley, A.R.3
Crow, S.4
Reardon, W.5
Buckler, A.J.6
Harper, P.S.7
Housman, D.E.8
Shaw, D.J.9
-
7
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Ameniya, C., Jansen, G., Neville, C., Narang, M., Barcelo, J., O'Hoy, K., Leblond, S., Earle-Macdonald, J., de Jong, P.J., Wieringa, B. and Komeluk, R.G. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science, 255, 1253-1255.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
Shutler, G.4
Ameniya, C.5
Jansen, G.6
Neville, C.7
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
Leblond, S.11
Earle-Macdonald, J.12
De Jong, P.J.13
Wieringa, B.14
Komeluk, R.G.15
-
8
-
-
0026885037
-
Anticipation in myotonic-dystrophy - New light on an old problem
-
Harper, P.S., Harley, H.G., Reardon, W. and Shaw, D.J. (1992) Anticipation in myotonic-dystrophy - new light on an old problem. Am. J. Hum.Genet., 51, 10-16.
-
(1992)
Am. J. Hum.Genet.
, vol.51
, pp. 10-16
-
-
Harper, P.S.1
Harley, H.G.2
Reardon, W.3
Shaw, D.J.4
-
9
-
-
0027366978
-
Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism
-
Lavedan, C., Hofmann-Radvanyi, H., Shelbourne, P., Rabes, J.-P., Duros, C., Savoy, D., Dehaupus, I., Luce, S., Johnson, K.J. and Junien, C. (1993) Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am. J. Hum. Genet. 52, 875-883.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 875-883
-
-
Lavedan, C.1
Hofmann-Radvanyi, H.2
Shelbourne, P.3
Rabes, J.-P.4
Duros, C.5
Savoy, D.6
Dehaupus, I.7
Luce, S.8
Johnson, K.J.9
Junien, C.10
-
10
-
-
0027291764
-
Myotonic dystrophy: Absence of CTG enlarged transcript in congenital form and low expression of the normal allele
-
Hoffman-Radvanyi, H., Lavedan, C., Rabes, J.P., Savoy, D., Duros, C., Johnson, K. and Junien, C. (1993) Myotonic dystrophy: absence of CTG enlarged transcript in congenital form and low expression of the normal allele. Hum. Mol. Genet., 2, 1263-1266.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1263-1266
-
-
Hoffman-Radvanyi, H.1
Lavedan, C.2
Rabes, J.P.3
Savoy, D.4
Duros, C.5
Johnson, K.6
Junien, C.7
-
11
-
-
0028234725
-
A case of paternally inherited congenital myotonic dystrophy
-
Nakagawa, M., Yamada, H., Higuchi, I., Kaminishi, Y., Miki, T., Johnson, K.J. and Osame, M. (1994) A case of paternally inherited congenital myotonic dystrophy. J. Med. Genet., 31, 397-400.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 397-400
-
-
Nakagawa, M.1
Yamada, H.2
Higuchi, I.3
Kaminishi, Y.4
Miki, T.5
Johnson, K.J.6
Osame, M.7
-
12
-
-
0027257735
-
Larger expansions of the CTG repeat in muscle than in lymphocytes from patients with myotonic dystrophy
-
Anvret, M., Grandell, U., Ahlberg, G., Hedberg, B., Johnson, K.J. and Edstrom, L. (1993) Larger expansions of the CTG repeat in muscle than in lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet., 2, 1397-1400.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1397-1400
-
-
Anvret, M.1
Grandell, U.2
Ahlberg, G.3
Hedberg, B.4
Johnson, K.J.5
Edstrom, L.6
-
13
-
-
0027957470
-
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
-
Thornton, C., Johnson, K.J., and Moxley, R. (1994) Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann. Neurol., 35, 104-107
-
(1994)
Ann. Neurol.
, vol.35
, pp. 104-107
-
-
Thornton, C.1
Johnson, K.J.2
Moxley, R.3
-
14
-
-
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
-
15
-
-
0027408596
-
Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy offspring
-
Redman, J.B., Fenwick, R.G., Fu, Y.H and Pizzuti, A. (1993) Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy offspring. J. Am. Med Assoc., 269, 1960-1965.
-
(1993)
J. Am. Med Assoc.
, vol.269
, pp. 1960-1965
-
-
Redman, J.B.1
Fenwick, R.G.2
Fu, Y.H.3
Pizzuti, A.4
-
16
-
-
0029085338
-
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period
-
Martorell, L., Martinez, J.M., Carey, N., Johnson, K.J. and Baiget, M. (1995) Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J. Med. Genet., 32, 593-596.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 593-596
-
-
Martorell, L.1
Martinez, J.M.2
Carey, N.3
Johnson, K.J.4
Baiget, M.5
-
17
-
-
0027416569
-
Characterisation and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy
-
Mahadevan, M.S., Foitzik, M.A., Surh, L.C. and Korneluk, R.G. (1993) Characterisation and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy. Genomics, 15, 446-448.
-
(1993)
Genomics
, vol.15
, pp. 446-448
-
-
Mahadevan, M.S.1
Foitzik, M.A.2
Surh, L.C.3
Korneluk, R.G.4
-
18
-
-
0027251874
-
Origin of the expansion mutation in myotonic dystrophy
-
Imbert, G., Kretz, C., Johnson, K. and Mandel, J.-L. (1993) Origin of the expansion mutation in myotonic dystrophy. Nature Genet., 4, 72-76.
-
(1993)
Nature Genet.
, vol.4
, pp. 72-76
-
-
Imbert, G.1
Kretz, C.2
Johnson, K.3
Mandel, J.-L.4
-
19
-
-
0028321831
-
Meiotic drive at the myotonic dystrophy locus?
-
Carey, N., Nokelainen, P., Peltonen, L., Savontaus, M.-L., Juvonen, V., Anvret, M., Grandell, U., Chotai, K., Robertson, E., Middleton-Price, H., Malcolm, S. and Johnson, K.J. (1994) Meiotic drive at the myotonic dystrophy locus? Nature Genet., 6, 117-118.
-
(1994)
Nature Genet.
, vol.6
, pp. 117-118
-
-
Carey, N.1
Nokelainen, P.2
Peltonen, L.3
Savontaus, M.-L.4
Juvonen, V.5
Anvret, M.6
Grandell, U.7
Chotai, K.8
Robertson, E.9
Middleton-Price, H.10
Malcolm, S.11
Johnson, K.J.12
-
20
-
-
0028156915
-
High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation
-
Neville, C.E., Mahadevan, M.S., Barcelo, J.M. and Korneluk, R.G. (1994) High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum. Mol. Genet., 3, 45-51.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 45-51
-
-
Neville, C.E.1
Mahadevan, M.S.2
Barcelo, J.M.3
Korneluk, R.G.4
-
21
-
-
0028947051
-
De novo myotonic dystrophy mutation in a Nigerian kindred
-
Krahe, R., Eckhart, M., Ogunniyi, A.O., Osuntokun, B.O., Siciliano, M.J. and Ashizawa, T. (1995) De novo myotonic dystrophy mutation in a Nigerian kindred. Am. J. Hum. Genet., 56, 1067-1074.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1067-1074
-
-
Krahe, R.1
Eckhart, M.2
Ogunniyi, A.O.3
Osuntokun, B.O.4
Siciliano, M.J.5
Ashizawa, T.6
-
22
-
-
0029038408
-
New founder haplotypes at the myotonic dystrophy locus in Southern Africa
-
Goldman, A., Ramsay, M. and Jenkins, T. (1995) New founder haplotypes at the myotonic dystrophy locus in Southern Africa. Am. J. Hum. Genet., 56, 1373-1378.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1373-1378
-
-
Goldman, A.1
Ramsay, M.2
Jenkins, T.3
-
23
-
-
0028902594
-
The Drosophila tumour suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation
-
Justice, R.W., Zilian, O., Woods, D.F., Noll, M. and Bryant, P.J. (1995) The Drosophila tumour suppressor gene warts encodes a homolog of human myotonic dystrophy kinase and is required for the control of cell shape and proliferation. Genes Dev., 9, 534-546.
-
(1995)
Genes Dev.
, vol.9
, pp. 534-546
-
-
Justice, R.W.1
Zilian, O.2
Woods, D.F.3
Noll, M.4
Bryant, P.J.5
-
24
-
-
0026583041
-
cot-1, a gene required for hyphal elongation in Neurospora crassa, encodes a protein kinase
-
Yarden, O., Plamann, M., Ebbole, D.J. and Yanofsky, C. (1992) cot-1, a gene required for hyphal elongation in Neurospora crassa, encodes a protein kinase. EMBO J., 11, 2159-2166.
-
(1992)
EMBO J.
, vol.11
, pp. 2159-2166
-
-
Yarden, O.1
Plamann, M.2
Ebbole, D.J.3
Yanofsky, C.4
-
25
-
-
0025210546
-
The product of the Saccharomyces cerevisiae cell cycle gene DBF2 has homology with protein kinases and is periodically expressed in the cell cycle
-
Johnston, L.H., Eberly, S.L., Chapman, H., Araki, H. and Sugino, A. (1990) The product of the Saccharomyces cerevisiae cell cycle gene DBF2 has homology with protein kinases and is periodically expressed in the cell cycle. Mol. Cell Biol., 10, 1358-1366.
-
(1990)
Mol. Cell Biol.
, vol.10
, pp. 1358-1366
-
-
Johnston, L.H.1
Eberly, S.L.2
Chapman, H.3
Araki, H.4
Sugino, A.5
-
26
-
-
0025768388
-
The cell-cycle regulated budding yeast gene DBF2, encoding a putative protein kinase, has a homologue that is not under cell-cycle control
-
Toyn, J.H., Araki, H., Sugino, A. and Johnston, L.H. (1991) The cell-cycle regulated budding yeast gene DBF2, encoding a putative protein kinase, has a homologue that is not under cell-cycle control. Gene, 104, 63-70.
-
(1991)
Gene
, vol.104
, pp. 63-70
-
-
Toyn, J.H.1
Araki, H.2
Sugino, A.3
Johnston, L.H.4
-
27
-
-
0027288790
-
Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene
-
Mahadaven, M.S., Amemiya, C., Jansen, G., Sabourin, L., Baird, S., Neville, C.E., Wormskamp, N., Segers, B., Batzer, M., Lamerdin, J., de Jong, P., Wieringa, B. and Korneluk, R.G. (1993) Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum. Mol. Genet., 2, 299-304.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 299-304
-
-
Mahadaven, M.S.1
Amemiya, C.2
Jansen, G.3
Sabourin, L.4
Baird, S.5
Neville, C.E.6
Wormskamp, N.7
Segers, B.8
Batzer, M.9
Lamerdin, J.10
De Jong, P.11
Wieringa, B.12
Korneluk, R.G.13
-
28
-
-
0029351158
-
Drosophila WARTS - Tumour suppressor and member of the myotonic dystrophy protein kinase family
-
Watson, K.L. (1995) Drosophila WARTS - tumour suppressor and member of the myotonic dystrophy protein kinase family. BioEssays, 17, 673-676.
-
(1995)
BioEssays
, vol.17
, pp. 673-676
-
-
Watson, K.L.1
-
29
-
-
0028104051
-
Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition
-
Dunne, P.W., Walch, E.T. and Epstein, H.F. (1994) Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition. Biochemistry, 33, 10809-10814.
-
(1994)
Biochemistry
, vol.33
, pp. 10809-10814
-
-
Dunne, P.W.1
Walch, E.T.2
Epstein, H.F.3
-
30
-
-
0028219886
-
The Dbf2 and Dbf20 protein kinases of budding yeast are activated after the metaphase to anaphase cell cycle transition
-
Toyn, J.H. and Johnston, L.H. (1994) The Dbf2 and Dbf20 protein kinases of budding yeast are activated after the metaphase to anaphase cell cycle transition. EMBO J., 13, 1103-1113.
-
(1994)
EMBO J.
, vol.13
, pp. 1103-1113
-
-
Toyn, J.H.1
Johnston, L.H.2
-
31
-
-
9144226790
-
The first fifty tumour suppressor genes
-
Watson, K.L., Justice, R.W. and Bryant, P.J. (1994) The first fifty tumour suppressor genes. J. Cell Sci. (Suppl.), 18, 11302-11306
-
(1994)
J. Cell Sci. (Suppl.)
, vol.18
, pp. 11302-11306
-
-
Watson, K.L.1
Justice, R.W.2
Bryant, P.J.3
-
32
-
-
0027504088
-
Anti-oncogenes and human cancer
-
Knudson, A.G. (1993) Anti-oncogenes and human cancer. Proc. Natl Acad. Sci. USA, 90, 10914-10921.
-
(1993)
Proc. Natl Acad. Sci. USA
, vol.90
, pp. 10914-10921
-
-
Knudson, A.G.1
-
33
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada, R.A., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, R.A.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
34
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk, A.J.M.H., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P.A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F. Eussen, B.E., van Ommen, G.J.B., Blonden, L.A.J., Riggens, G.J., Chastain, J.L., Kunst, C.B., Galjaard, H., Caskey, C.T., Nelson, D.L., Oostra, B.A. and Warren, S.T. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, D.P.A.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.10
Eussen, B.E.11
Van Ommen, G.J.B.12
Blonden, L.A.J.13
Riggens, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Galjaard, H.17
Caskey, C.T.18
Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
more..
-
35
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntingtons disease chromosomes
-
Macdonald, M.E., Ambrose, C.M., Duyao, M.P., Myers, R.H., Lin, C., Srinidhi, L., Barnes, G., Taylor, S.A., James, M., Groot, N., Macfarlane, H., Jenkins, B., Anderson, M.A., Wexler, N.S., Gusella, J.F., Bates, G.P., Baxendale, S., Hummerich, H., Kirby, S., North, M., Youngman, S., Mott, R., Zehetner, G., Sedlacek, Z., Poustka, A., Frischauf, A.M., Lehrach, H., Buckler, A.J., Church, D., Doucettestamm, L., Odonovan, M.C., Ribaramirez, L., Shah, M., Stanton, V.P., Strobel, S.A., Draths, K.M., Wales, J.L., Dervan, P., Housman, D.E., Altherr, M., Shiang, R., Thompson, L., Fielder, T., Wasmuth, J.J., Tagle, D., Valdes, J., Elmer, L., Allard, M., Castilla, L., Swaroop, M., Blanchard, K., Collins, F.S., Snell, R., Holloway, T., Gillespie, K., Datson, N., Shaw, D. and Harper, P.S. (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntingtons disease chromosomes. Cell, 72, 971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
Macdonald, M.E.1
Ambrose, C.M.2
Duyao, M.P.3
Myers, R.H.4
Lin, C.5
Srinidhi, L.6
Barnes, G.7
Taylor, S.A.8
James, M.9
Groot, N.10
Macfarlane, H.11
Jenkins, B.12
Anderson, M.A.13
Wexler, N.S.14
Gusella, J.F.15
Bates, G.P.16
Baxendale, S.17
Hummerich, H.18
Kirby, S.19
North, M.20
Youngman, S.21
Mott, R.22
Zehetner, G.23
Sedlacek, Z.24
Poustka, A.25
Frischauf, A.M.26
Lehrach, H.27
Buckler, A.J.28
Church, D.29
Doucettestamm, L.30
Odonovan, M.C.31
Ribaramirez, L.32
Shah, M.33
Stanton, V.P.34
Strobel, S.A.35
Draths, K.M.36
Wales, J.L.37
Dervan, P.38
Housman, D.E.39
Altherr, M.40
Shiang, R.41
Thompson, L.42
Fielder, T.43
Wasmuth, J.J.44
Tagle, D.45
Valdes, J.46
Elmer, L.47
Allard, M.48
Castilla, L.49
Swaroop, M.50
Blanchard, K.51
Collins, F.S.52
Snell, R.53
Holloway, T.54
Gillespie, K.55
Datson, N.56
Shaw, D.57
Harper, P.S.58
more..
-
36
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type-1
-
Orr, H.T., Chung, M.Y., Banfi, S., Kwiatkowski, T.J., Servadio, A., Beaudet, A.L., McCall, A.E., Duvick, L.A., Ranum, L.P.W. and Zoghbi, H.Y. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type-1. Nature Genet., 4, 221-226.
-
(1993)
Nature Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski, T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
37
-
-
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., 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 14q32.1. Nature Genet., 8, 221-228.
-
(1994)
Nature Genet.
, vol.8
, pp. 221-228
-
-
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
-
38
-
-
0027203684
-
Trinucleotide repeat amplification and hyper-methylation of a CpG island in FraxE mental retardation
-
Knight, S.J.L., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middletonprice, H.R., Barnicoat, A., Pembrey, M.E., Holland, J., Oostra, B.A., Bobrow, M. and Davies, K.E. (1993) Trinucleotide repeat amplification and hyper-methylation of a CpG island in FraxE mental retardation. Cell, 74, 127-134.
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.L.1
Flannery, A.V.2
Hirst, M.C.3
Campbell, L.4
Christodoulou, Z.5
Phelps, S.R.6
Pointon, J.7
Middletonprice, H.R.8
Barnicoat, A.9
Pembrey, M.E.10
Holland, J.11
Oostra, B.A.12
Bobrow, M.13
Davies, K.E.14
-
39
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F. and Tsuji, S. (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet., 6, 9-13.
-
(1994)
Nature Genet.
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
Saito, M.11
Tomoda, A.12
Miike, T.13
Naito, H.14
Ikuta, F.15
Tsuji, S.16
-
40
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano, V., Montermini, L., Molto, M.D., Pianese, L., Cossee, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Canizares, J., Koutnikova, H., Bidichandani, S.I., Gellerea, C., Brice, A., Trouillas, P., De Michele, G., Filla, A., De Frutos, R., Palau, F., Patel, P.I., Di Donato, S., Mandel, J.L., Cocozza, S., Koenig, M. and Pandolfo, M. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271, 1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Canizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellerea, C.15
Brice, A.16
Trouillas, P.17
De Michele, G.18
Filla, A.19
De Frutos, R.20
Palau, F.21
Patel, P.I.22
Di Donato, S.23
Mandel, J.L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
41
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti, M., Zhang, F.P, Fu, Y.H., Warren, S.T., Oostra, B.A., Caskey, C.T. and Nelson, D.L. (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66, 817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
42
-
-
0030137717
-
Identification of the gene FMR2, associated with FRAXE mental retardation
-
Gecz, J., Gedeon, A.K., Sutherland, G.R. and Mulley, J.C (1996) Identification of the gene FMR2, associated with FRAXE mental retardation. Nature Genet., 13, 105-108.
-
(1996)
Nature Genet.
, vol.13
, pp. 105-108
-
-
Gecz, J.1
Gedeon, A.K.2
Sutherland, G.R.3
Mulley, J.C.4
-
43
-
-
0030138905
-
Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
-
Gu, Y., Shen, Y., Gibbs, R.A. and Nelson, D.L. (1996) Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nature Genet., 13, 109-113.
-
(1996)
Nature Genet.
, vol.13
, pp. 109-113
-
-
Gu, Y.1
Shen, Y.2
Gibbs, R.A.3
Nelson, D.L.4
-
44
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Trottier, Y., Lutz. Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F, Weber, C., David, G., Tora, L., Agid, Y., Brice, A. and Mandel, J.-L. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature, 378, 403-406.
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
Lutz, Y.2
Stevanin, G.3
Imbert, G.4
Devys, D.5
Cancel, G.6
Saudou, F.7
Weber, C.8
David, G.9
Tora, L.10
Agid, Y.11
Brice, A.12
Mandel, J.-L.13
-
45
-
-
0027502568
-
A study of DNA methylation in myotonic dystrophy
-
Shaw, D.J., Chaudhary, S., Rundle, S.A., Crow, S., Brook, J.D., Harper, P.S. and Harley, H.G. (1993) A study of DNA methylation in myotonic dystrophy. J. Med Genet., 30, 189-192.
-
(1993)
J. Med Genet.
, vol.30
, pp. 189-192
-
-
Shaw, D.J.1
Chaudhary, S.2
Rundle, S.A.3
Crow, S.4
Brook, J.D.5
Harper, P.S.6
Harley, H.G.7
-
46
-
-
0028932050
-
Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements
-
Wang, Y.H. and Griffith, J. (1995) Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements. Genomics, 25, 570-573.
-
(1995)
Genomics
, vol.25
, pp. 570-573
-
-
Wang, Y.H.1
Griffith, J.2
-
47
-
-
0029059218
-
Triplet repeat expansion in myotonic-dystrophy alters the adjacent chromatin structure
-
Otten, A.D. and Tapscott, S.J. (1995) Triplet repeat expansion in myotonic-dystrophy alters the adjacent chromatin structure. Proc. Natl Acad. Sci. USA, 92, 5465-5469.
-
(1995)
Proc. Natl Acad. Sci. USA
, vol.92
, pp. 5465-5469
-
-
Otten, A.D.1
Tapscott, S.J.2
-
48
-
-
0026895235
-
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs
-
Jansen, G., Mahadevan, M., Amemiya, C., Wormskamp, N., Segers, B., Hendriks, W., O'Hoy, K., Baird, S., Sabourin, L., Lennon, G., Jap, PL., Iles, D., Coerwinkel, M., Hofker, M., Carrano, AV., de Jong, PJ., Korneluk, RG. and Wieringa, B. (1992) Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nature Genet., 1, 261-238.
-
(1992)
Nature Genet.
, vol.1
, pp. 261-1238
-
-
Jansen, G.1
Mahadevan, M.2
Amemiya, C.3
Wormskamp, N.4
Segers, B.5
Hendriks, W.6
O'Hoy, K.7
Baird, S.8
Sabourin, L.9
Lennon, G.10
Jap, P.L.11
Iles, D.12
Coerwinkel, M.13
Hofker, M.14
Carrano, A.V.15
De Jong, P.J.16
Korneluk, R.G.17
Wieringa, B.18
-
49
-
-
0029038947
-
Structural organization and developmental expression pattern of the mouse Wd-repeat gene Dmr-N9 immediately upstream of the myotonic-dystrophy locus
-
Jansen, G., Bachner, D., Coerwinkel, M., Wormskamp, N., Hameister, H. and Wieringa, B. (1995) Structural organization and developmental expression pattern of the mouse Wd-repeat gene Dmr-N9 immediately upstream of the myotonic-dystrophy locus. Hum. Mol. Genet., 4, 843-852.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 843-852
-
-
Jansen, G.1
Bachner, D.2
Coerwinkel, M.3
Wormskamp, N.4
Hameister, H.5
Wieringa, B.6
-
50
-
-
0027729047
-
Genomic organisation and transcriptional units at the myotonic dystrophy locus
-
Shaw, D.J., McCurrach, M., Rundle, S.A., Harley, H.G., Crow, S.R., Sohn, R., Thirion, J.-P., Hamshere, M.G., Buckler, A.J., Harper, P.S., Housman, D.E. and Brook, J.D. (1993) Genomic organisation and transcriptional units at the myotonic dystrophy locus. Genomics, 18, 673-679.
-
(1993)
Genomics
, vol.18
, pp. 673-679
-
-
Shaw, D.J.1
McCurrach, M.2
Rundle, S.A.3
Harley, H.G.4
Crow, S.R.5
Sohn, R.6
Thirion, J.-P.7
Hamshere, M.G.8
Buckler, A.J.9
Harper, P.S.10
Housman, D.E.11
Brook, J.D.12
-
51
-
-
0029993053
-
Is myotonic dystrophy a single gene disorder?
-
Johnson, K.J., Boucher, C.A., King, S.K., Winchester, C.L., Bailey, M.E.S., Hamilton, G.M. and Carey, N. (1996) Is myotonic dystrophy a single gene disorder? Biochem. Soc. Trans.
-
(1996)
Biochem. Soc. Trans.
-
-
Johnson, K.J.1
Boucher, C.A.2
King, S.K.3
Winchester, C.L.4
Bailey, M.E.S.5
Hamilton, G.M.6
Carey, N.7
-
52
-
-
0028818586
-
n repeat
-
n repeat. Hum. Mol. Genet., 4, 1919-1925.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1919-1925
-
-
Boucher, C.A.1
King, S.K.2
Carey, N.3
Krahe, R.4
Winchester, C.L.5
Rahman, S.6
Creavin, T.7
Meghji, P.8
Bailey, M.E.S.9
Chartier, F.L.10
Brown, S.D.11
Siciliano, M.J.12
Johnson, K.J.13
-
53
-
-
0030059840
-
RNA recognition and translational regulation by a homeodomain protein
-
Dubnau, J. and Struhl, G. (1996) RNA recognition and translational regulation by a homeodomain protein. Nature, 379, 694-699.
-
(1996)
Nature
, vol.379
, pp. 694-699
-
-
Dubnau, J.1
Struhl, G.2
-
54
-
-
0027246344
-
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy
-
Fu, Y.-H., Friedman, D.L., Richards, S., Pearlman, J.A., Gibbs, R.A., Pizzuti, A., Ashizawa, T., Ferryman, M.B., Scarlato, G., Fenwick, R.G. Jr, and Caskey, C.T. (1993) Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science, 260, 235-238.
-
(1993)
Science
, vol.260
, pp. 235-238
-
-
Fu, Y.-H.1
Friedman, D.L.2
Richards, S.3
Pearlman, J.A.4
Gibbs, R.A.5
Pizzuti, A.6
Ashizawa, T.7
Ferryman, M.B.8
Scarlato, G.9
Fenwick Jr., R.G.10
Caskey, C.T.11
-
55
-
-
0027372107
-
Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
-
Carango, P., Noble, J.E., Marks, H.G. and Funanage, V.L. (1993) Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics, 18, 340-348.
-
(1993)
Genomics
, vol.18
, pp. 340-348
-
-
Carango, P.1
Noble, J.E.2
Marks, H.G.3
Funanage, V.L.4
-
56
-
-
0029161979
-
Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing
-
Krahe, R., Ashizawa, T., Abbruzzese, C., Roeder, E., Carango, P., Giacanelli, M., Funanage, V.L. and Siciliano, M.J. (1995) Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics, 28, 1-14.
-
(1995)
Genomics
, vol.28
, pp. 1-14
-
-
Krahe, R.1
Ashizawa, T.2
Abbruzzese, C.3
Roeder, E.4
Carango, P.5
Giacanelli, M.6
Funanage, V.L.7
Siciliano, M.J.8
-
57
-
-
0027163546
-
Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene
-
Sabourin, L.A., Mahadevan, M.S., Narang, M., Lee, D.S.C., Surh, L.C. and Korneluk, R.G. (1993) Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nature Genet., 4, 233-238.
-
(1993)
Nature Genet.
, vol.4
, pp. 233-238
-
-
Sabourin, L.A.1
Mahadevan, M.S.2
Narang, M.3
Lee, D.S.C.4
Surh, L.C.5
Korneluk, R.G.6
-
58
-
-
0028940741
-
Myotonic dystrophy: Evidence for a possible dominant negative RNA mutation
-
Wang, J.Z., Pegoraro, E., Menegazzo, E., Gennarelli, M., Hoop, R.C., Angelini, C. and Hoffman, E.P. (1995) Myotonic dystrophy: evidence for a possible dominant negative RNA mutation. Hum. Mol. Genet., 4, 599-606.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 599-606
-
-
Wang, J.Z.1
Pegoraro, E.2
Menegazzo, E.3
Gennarelli, M.4
Hoop, R.C.5
Angelini, C.6
Hoffman, E.P.7
-
59
-
-
0028947317
-
Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues
-
Taneja, K.L., McCurrach, M., Schalling, M., Housman, D. and Singer, R.H. (1995) Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol., 128, 995-1002.
-
(1995)
J. Cell Biol.
, vol.128
, pp. 995-1002
-
-
Taneja, K.L.1
McCurrach, M.2
Schalling, M.3
Housman, D.4
Singer, R.H.5
-
60
-
-
0030043709
-
Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: Implications for myotonic dystrophy
-
Timchenko, L.T., Timchenko, N.A., Caskey, C.T. and Roberts, R. (1996) Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum. Mol. Genet., 5, 115-121.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 115-121
-
-
Timchenko, L.T.1
Timchenko, N.A.2
Caskey, C.T.3
Roberts, R.4
-
61
-
-
8944235350
-
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
-
Jansen, J., Groenen, P.J.T.A., Bachner, D., Jap, P.H.K., Coerwinkel, M., Oerlemans, F., van den Broek, W., Gohlsch, B., Pette, D., Plomp, J.J., Molenaar, P.C., Nederhof, M.G.J., van Edited, C.J.A., Dekker, M., Bems, A., Hameister, H. and Wieringa, B. (1996) Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nature Genet., 13, 316-324.
-
(1996)
Nature Genet.
, vol.13
, pp. 316-324
-
-
Jansen, J.1
Groenen, P.J.T.A.2
Bachner, D.3
Jap, P.H.K.4
Coerwinkel, M.5
Oerlemans, F.6
Van Den Broek, W.7
Gohlsch, B.8
Pette, D.9
Plomp, J.J.10
Molenaar, P.C.11
Nederhof, M.G.J.12
Van Edited, C.J.A.13
Dekker, M.14
Bems, A.15
Hameister, H.16
Wieringa, B.17
-
62
-
-
0027525217
-
Myotonic dystrophy kinase is a component of neuromuscular junctions
-
Van der Ven, P.F.M., Jansen, G., Vankepuvelt, Thmsm., Perryman, M.B., Lupa, M., Dunne, P.W., Terlaak, H.J., Jap, P.H.K., Veerkamp, J.H., Epstein, H.F and Wieringa, B. (1993) Myotonic dystrophy kinase is a component of neuromuscular junctions. Hum. Mol. Genet., 2, 1889-1894.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1889-1894
-
-
Van Der Ven, P.F.M.1
Jansen, G.2
Vankepuvelt, T.3
Perryman, M.B.4
Lupa, M.5
Dunne, P.W.6
Terlaak, H.J.7
Jap, P.H.K.8
Veerkamp, J.H.9
Epstein, H.F.10
Wieringa, B.11
-
63
-
-
0029586039
-
Localization of myotonic dystrophy protein kinase in skeletal muscle and its alteration with disease
-
Dunne, P.W., Ma, L., Casey, D.L., Harati, Y. And Epstein, H.F. (1996) Localization of myotonic dystrophy protein kinase in skeletal muscle and its alteration with disease. Cell Motility Cytoskeleton, 33, 52-63.
-
(1996)
Cell Motility Cytoskeleton
, vol.33
, pp. 52-63
-
-
Dunne, P.W.1
Ma, L.2
Casey, D.L.3
Harati, Y.4
Epstein, H.F.5
-
64
-
-
8944259903
-
Mice lacking the myotonic dystrophy protein develop a late onset progressive myopathy
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Reddy, S., Smith, D. B. J., Rich, M. N., Leferovich, H. M., Reilly, P., Davis, B. M., Tran, K., Rayburn, H., Bronson, R., Cros, D., Balice-Gordon, R. J. and Housman, D. (1996) Mice lacking the myotonic dystrophy protein develop a late onset progressive myopathy. Nature Genet. 13, 325-335.
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(1996)
Nature Genet.
, vol.13
, pp. 325-335
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Reddy, S.1
Smith, D.B.J.2
Rich, M.N.3
Leferovich, H.M.4
Reilly, P.5
Davis, B.M.6
Tran, K.7
Rayburn, H.8
Bronson, R.9
Cros, D.10
Balice-Gordon, R.J.11
Housman, D.12
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