-
2
-
-
0025912905
-
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker
-
Harley, H., Brook, J., Floyd, J., Rundle S., Crow, S., Walsh, K., Thibault, M.-C., Harper, P. and Shaw, D. (1991) Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am. J. Hum. Genet., 49, 68-75.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 68-75
-
-
Harley, H.1
Brook, J.2
Floyd, J.3
Rundle, S.4
Crow, S.5
Walsh, K.6
Thibault, M.-C.7
Harper, P.8
Shaw, D.9
-
3
-
-
0031811594
-
Genetic mapping of a second myotonic dystrophy locus
-
Ranum, L., Rasmussen, P., Benzow, K., Koob, M. and Day, J. (1998) Genetic mapping of a second myotonic dystrophy locus. Nature Genet., 19, 196-198.
-
(1998)
Nature Genet.
, vol.19
, pp. 196-198
-
-
Ranum, L.1
Rasmussen, P.2
Benzow, K.3
Koob, M.4
Day, J.5
-
4
-
-
0032923704
-
Linkage of proximal myotonic myopathy to chromosome 3q
-
Ricker, K., Grimm, T., Koch, M., Schneider, C., Kress, W., Reimers, C., Schulte-Mattler, W., Mueller-Myhsok, B., Toyka, K. and Mueller, C. (1999) Linkage of proximal myotonic myopathy to chromosome 3q. Neurology, 52, 170-171.
-
(1999)
Neurology
, vol.52
, pp. 170-171
-
-
Ricker, K.1
Grimm, T.2
Koch, M.3
Schneider, C.4
Kress, W.5
Reimers, C.6
Schulte-Mattler, W.7
Mueller-Myhsok, B.8
Toyka, K.9
Mueller, C.10
-
5
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide CTG repeat at the 3′ end of the transcript encoded a protein kinase family member
-
Brook, J., Currach, M., Harley, H., Buckler, A., Church, D., Aburatani, H., Hunter, K., Stanton, V. et al. (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide CTG repeat at the 3′ end of the transcript encoded a protein kinase family member. Cell, 68, 799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.1
Currach, M.2
Harley, H.3
Buckler, A.4
Church, D.5
Aburatani, H.6
Hunter, K.7
Stanton, V.8
-
6
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton, J., Shelbourne, P., Davies, J., Jones, C., Tongeren, T., Aslanidis, C., John, 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
Tongeren, T.5
Aslanidis, C.6
John, P.7
Jansen, G.8
Anvret, M.9
Riley, B.10
Williamson, R.11
Johnson, K.12
-
7
-
-
0026598119
-
An unstable triplet repeat in the gene related to myotonic muscular dystrophy
-
Fu, Y., Pizzuti, A., Fenwick, R., King, J., Rajnarayan, S., Dunne, P., Dubel, J., Nasser, G., Ashizawa, T., Jong, P. et al. (1992) An unstable triplet repeat in the gene related to myotonic muscular dystrophy. Science, 255, 1256-1258.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.1
Pizzuti, A.2
Fenwick, R.3
King, J.4
Rajnarayan, S.5
Dunne, P.6
Dubel, J.7
Nasser, G.8
Ashizawa, T.9
Jong, P.10
-
8
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barcelo, J., O'Hoy, K., Leblong, S., Earle-Mac-donald, J., Hohn, P., Wieringa, B. and Korneluk, R. (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
Amemiya, C.5
Jansen, G.6
Neville, C.7
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
Leblong, S.11
Earle-Mac-Donald, J.12
Hohn, P.13
Wieringa, B.14
Korneluk, R.15
-
9
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley, H., Rundle, S., MacMillan, J., Myring, J., Brook, J., Crow, S., Reardon, W., Fenton, I., Shaw, D. and Harper, P. (1993) Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am. J. Hum Genet., 52, 1164-1174.
-
(1993)
Am. J. Hum Genet.
, vol.52
, pp. 1164-1174
-
-
Harley, H.1
Rundle, S.2
MacMillan, J.3
Myring, J.4
Brook, J.5
Crow, S.6
Reardon, W.7
Fenton, I.8
Shaw, D.9
Harper, P.10
-
10
-
-
8944259903
-
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
-
Reddy, S., Smith, D., Rich, M., Leferovich, J., Reilly, P., Davis, B., Tran, K., Raybum, H., Bronson, R., Cros, D., Balice-Gordon, R. and Housman, D. (1996) Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature Genet., 13, 325-335.
-
(1996)
Nature Genet.
, vol.13
, pp. 325-335
-
-
Reddy, S.1
Smith, D.2
Rich, M.3
Leferovich, J.4
Reilly, P.5
Davis, B.6
Tran, K.7
Raybum, H.8
Bronson, R.9
Cros, D.10
Balice-Gordon, R.11
Housman, D.12
-
11
-
-
8944235350
-
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
-
Jansen, G., Groenen, P., Bachener, D., Jap, P., Coerwinkel, M., Oerlemans, F., van den Broek, W., Gohlsch, B., Pette, D., Plomp, J. et al. (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, G.1
Groenen, P.2
Bachener, D.3
Jap, P.4
Coerwinkel, M.5
Oerlemans, F.6
Van Den Broek, W.7
Gohlsch, B.8
Pette, D.9
Plomp, J.10
-
12
-
-
0031054076
-
Hypermutable myotonic dystrophy CTG repeats in transgenic mice
-
Monckton, D., Coolbaugh, M., Ashizawa, K., Siciliano, M. and Caskey, C. (1997) Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nature Genet, 15, 193-196.
-
(1997)
Nature Genet
, vol.15
, pp. 193-196
-
-
Monckton, D.1
Coolbaugh, M.2
Ashizawa, K.3
Siciliano, M.4
Caskey, C.5
-
13
-
-
0032520688
-
Myotonic dystrophy: Molecular windows on a complex etiology
-
Korade-Mirnics, Z., Babitzke, P. and Hoffman, E. (1998) Myotonic dystrophy: molecular windows on a complex etiology. Nucleic Acids Res., 26, 1363-1368.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 1363-1368
-
-
Korade-Mirnics, Z.1
Babitzke, P.2
Hoffman, E.3
-
14
-
-
0027246344
-
Decreased expression of myotonic protein kinase messenger RNA and protein in the adult form of myotonic dystrophy
-
Fu, Y.-H., Friedman, D.L., Richards, S., Pearlman, J.A., Gibbs, R.A., Pizzuti, A., Ashizawa, T., Perryman, H.B., Scarleto, G., Fenwick, R.G. and Caskey, C.T. (1993) Decreased expression of myotonic protein kinase messenger RNA and protein in the 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
Perryman, H.B.8
Scarleto, G.9
Fenwick, R.G.10
Caskey, C.T.11
-
15
-
-
0027964557
-
Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy
-
Koga, R., Nakao, Y., Kurano, Y., Tsukahara, T., Nakamura, A., Ishiura, S., Nonaka, I. and Arahata, K. (1994) Decreased myotonin-protein kinase in the skeletal and cardiac muscles in myotonic dystrophy. Biochem. Biophys. Res. Commun., 202, 577-585.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.202
, pp. 577-585
-
-
Koga, R.1
Nakao, Y.2
Kurano, Y.3
Tsukahara, T.4
Nakamura, A.5
Ishiura, S.6
Nonaka, I.7
Arahata, K.8
-
16
-
-
0029161979
-
Effect of myotonic dystrophy trinucleolide 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 trinucleolide repeat expansion on DMPK transcription and processing. Genamics, 28, 1-14.
-
(1995)
Genamics
, 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
-
17
-
-
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
-
18
-
-
0028940741
-
Myotonic dystrophy: Evidence for a possible dominant-negative RNA mutation
-
Wang, J., Pegoraro, E., Menegazzo, E., Gennarelli, M., Hoop, R., Angelini, C. and Hoffman, E. (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.1
Pegoraro, E.2
Menegazzo, E.3
Gennarelli, M.4
Hoop, R.5
Angelini, C.6
Hoffman, E.7
-
19
-
-
0030968054
-
RNA metabolism in myotonic dystrophy: Patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance
-
Morrone, A., Pegoraro, E., Angelini, C., Zammarchi, E., Marconi, G. and Hoffman, E. (1997) RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. J. Clin. Invest., 99, 1691-1698.
-
(1997)
J. Clin. Invest.
, vol.99
, pp. 1691-1698
-
-
Morrone, A.1
Pegoraro, E.2
Angelini, C.3
Zammarchi, E.4
Marconi, G.5
Hoffman, E.6
-
20
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
Philips, A., Timchenko, L. and Cooper, T. (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science, 280, 737-741.
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.1
Timchenko, L.2
Cooper, T.3
-
21
-
-
0030861573
-
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
-
Thormon, C., Wymer, J., Simmons, Z., McClain, C. and Moxley, R. III (1997) Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nature Genet., 16, 407-409.
-
(1997)
Nature Genet.
, vol.16
, pp. 407-409
-
-
Thormon, C.1
Wymer, J.2
Simmons, Z.3
McClain, C.4
Moxley R. III5
-
22
-
-
0030845879
-
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
-
Klesert, T., Otten, A., Bird, T. and Tapscott, S. (1997) Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nature Genet., 16, 402-406.
-
(1997)
Nature Genet.
, vol.16
, pp. 402-406
-
-
Klesert, T.1
Otten, A.2
Bird, T.3
Tapscott, S.4
-
23
-
-
0003880161
-
-
Alberts, B., Grey, D., Lewis, J., Raff, M., Roberts, K. and Watson, J. (1989) Molecular Biology of the Cell, 2nd edn.
-
(1989)
Molecular Biology of the Cell, 2nd Edn.
-
-
Alberts, B.1
Grey, D.2
Lewis, J.3
Raff, M.4
Roberts, K.5
Watson, J.6
-
24
-
-
84984933234
-
High density synthetic oligonucleotide arrays
-
Lipshutz, R., Fodor, S., Gingeras, T. and Lockhart, D. (1999) High density synthetic oligonucleotide arrays. Nature Genet., 21 (suppl.), 20-24.
-
(1999)
Nature Genet.
, vol.21
, Issue.SUPPL.
, pp. 20-24
-
-
Lipshutz, R.1
Fodor, S.2
Gingeras, T.3
Lockhart, D.4
-
25
-
-
0029886294
-
Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy
-
Ishii, S., Nishio, T., Sunohara, N., Yoshihara, T., Takemura, K., Hikiji, K., Tsujino, S. and Sakuragawa, N. (1996) Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy. Hum. Genet., 98, 138-140.
-
(1996)
Hum. Genet.
, vol.98
, pp. 138-140
-
-
Ishii, S.1
Nishio, T.2
Sunohara, N.3
Yoshihara, T.4
Takemura, K.5
Hikiji, K.6
Tsujino, S.7
Sakuragawa, N.8
-
26
-
-
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.9
Chartier, F.L.10
-
27
-
-
0030947268
-
Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus
-
Heath, S., Carne, S., Hoyle, C., Johnson, K. and Wells, D. (1997) Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus. Hum. Mol. Genet., 6, 651-657.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 651-657
-
-
Heath, S.1
Carne, S.2
Hoyle, C.3
Johnson, K.4
Wells, D.5
-
28
-
-
0029617682
-
Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development
-
Oliver, G., Mailhos, A., Wehr, R., Copeland, N.G., Jenkins, N.A. and Gruss, P. (1995) Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development. Development, 121, 4045-4055.
-
(1995)
Development
, vol.121
, pp. 4045-4055
-
-
Oliver, G.1
Mailhos, A.2
Wehr, R.3
Copeland, N.G.4
Jenkins, N.A.5
Gruss, P.6
-
29
-
-
0028904766
-
Homeobox genes and connective tissue patterning
-
Oliver, G., Wehr, R., Jenkins, N.A., Copeland, N.G., Cheyette, B.N., Hartenstein, V., Zipursky, S.L. and Gruss, P. (1995) Homeobox genes and connective tissue patterning. Development, 121, 693-705.
-
(1995)
Development
, vol.121
, pp. 693-705
-
-
Oliver, G.1
Wehr, R.2
Jenkins, N.A.3
Copeland, N.G.4
Cheyette, B.N.5
Hartenstein, V.6
Zipursky, S.L.7
Gruss, P.8
-
30
-
-
0030590443
-
Identification and expression of six family genes in mouse retina
-
Kawakami, K., Ohio, H., Takizawa, T. and Saito, T. (1996) Identification and expression of six family genes in mouse retina. FEBS Lett., 393, 259-263.
-
(1996)
FEBS Lett.
, vol.393
, pp. 259-263
-
-
Kawakami, K.1
Ohio, H.2
Takizawa, T.3
Saito, T.4
-
31
-
-
0029916927
-
Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development
-
Kawakami, K., Ohto, H., Ikeda, K. and Roeder, R.G. (1996) Structure, function and expression of a murine homeobox protein AREC3, a homologue of Drosophila sine oculis gene product, and implication in development. Nucleic Acids Res., 24, 303-310.
-
(1996)
Nucleic Acids Res.
, vol.24
, pp. 303-310
-
-
Kawakami, K.1
Ohto, H.2
Ikeda, K.3
Roeder, R.G.4
-
32
-
-
0029892086
-
Cloning of the human SIX1 gene and its assignment to chromosome 14
-
Boucher, C.A., Carey, N., Edwards, Y.H., Siciliano, M.J. and Johnson, K.J. (1996) Cloning of the human SIX1 gene and its assignment to chromosome 14. Genomics, 33, 140-142.
-
(1996)
Genomics
, vol.33
, pp. 140-142
-
-
Boucher, C.A.1
Carey, N.2
Edwards, Y.H.3
Siciliano, M.J.4
Johnson, K.J.5
-
33
-
-
0031053157
-
A combination of MEF3 and NFI proteins activates transcription in a subset of fast-twitch muscles
-
Spitz, F., Salminen, M., Demignon, J., Kahn, A., Daegelen, D. and Maire, P. (1997) A combination of MEF3 and NFI proteins activates transcription in a subset of fast-twitch muscles. Mol. Cell. Biol., 17, 656-666.
-
(1997)
Mol. Cell. Biol.
, vol.17
, pp. 656-666
-
-
Spitz, F.1
Salminen, M.2
Demignon, J.3
Kahn, A.4
Daegelen, D.5
Maire, P.6
-
34
-
-
0030740466
-
Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes
-
Hamshere, M., Newman, E., Alwazzan, D., Athwal, D. and Brook, J. (1997) Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proc. Natl Acad. Sci. USA, 94, 7394-7399.
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 7394-7399
-
-
Hamshere, M.1
Newman, E.2
Alwazzan, D.3
Athwal, D.4
Brook, J.5
-
35
-
-
0030581164
-
Influence of PAX6 gene dosage on development: Overexpression causes severe eye abnormalities
-
Schedl, A., Ross, A., Lee, M., Engelkamp, D., Rashbass, P., van Heyningen, V. and Hastie, N.D. (1996) Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell, 86, 71-82.
-
(1996)
Cell
, vol.86
, pp. 71-82
-
-
Schedl, A.1
Ross, A.2
Lee, M.3
Engelkamp, D.4
Rashbass, P.5
Van Heyningen, V.6
Hastie, N.D.7
-
36
-
-
0031783721
-
A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy
-
Gennarelli, M., Pavoni, M., Amicucci, P., Novelli, G. and Dallapiccola, B. (1998) A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy. Diagn. Mol. Pathol., 7, 135-137.
-
(1998)
Diagn. Mol. Pathol.
, vol.7
, pp. 135-137
-
-
Gennarelli, M.1
Pavoni, M.2
Amicucci, P.3
Novelli, G.4
Dallapiccola, B.5
-
37
-
-
0027486670
-
Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome
-
McConkie-Rosell, A., Lachiewicz, A., Spiridigiozzi, G., Tarleton, J., Schoenwald, S., Phelan, M., Goonewardena, P., Ding, X. and Brown, W. (1993) Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am. J. Hum. Genet., 53, 800-809.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 800-809
-
-
McConkie-Rosell, A.1
Lachiewicz, A.2
Spiridigiozzi, G.3
Tarleton, J.4
Schoenwald, S.5
Phelan, M.6
Goonewardena, P.7
Ding, X.8
Brown, W.9
-
38
-
-
0028229055
-
Pathophysiology of sodium channelopathies
-
Zhou, J. and Hoffman, E. (1994) Pathophysiology of sodium channelopathies. J. Biol. Chem., 269, 18563-18571.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 18563-18571
-
-
Zhou, J.1
Hoffman, E.2
|