-
2
-
-
0016813740
-
Congenital myotonic dystrophy in Britain. I. Clinical aspects
-
Harper PS: Congenital myotonic dystrophy in Britain. I. Clinical aspects. Arch Dis Child 1975;50:505-513.
-
(1975)
Arch Dis Child
, vol.50
, pp. 505-513
-
-
Harper, P.S.1
-
3
-
-
0026601924
-
Expansion of an unstable DNA region and phenotype variation in myotonic dystrophy
-
Harley HG, Brook JD, Rundle SA, et al: Expansion of an unstable DNA region and phenotype variation in myotonic dystrophy. Nature 1992;355:545-546.
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Harley, H.G.1
Brook, J.D.2
Rundle, S.A.3
-
4
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton J, Shelbourne P, Davies J, et al: Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-548.
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
-
5
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region: Mapping of the putative defect
-
Aslanidis C, Jansen C, Amemiya C, et al: Cloning of the essential myotonic dystrophy region: Mapping of the putative defect. Nature 1992;355:548-551.
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
Jansen, C.2
Amemiya, C.3
-
6
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Exapansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG, et al: Molecular basis of myotonic dystrophy: Exapansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
-
7
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu YH, Pizzuti A, Fenwick RG Jr, et al: An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-1258.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwick Jr., R.G.3
-
8
-
-
0026879229
-
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
-
Tsilfidis C, Mackenzie AE, Mettler G, et al: Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1992;1:192-195.
-
(1992)
Nat Genet
, vol.1
, pp. 192-195
-
-
Tsilfidis, C.1
Mackenzie, A.E.2
Mettler, G.3
-
9
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
Mahadevan M, Tsifidis C, Sabourin L, et al: Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255:1253-1255.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsifidis, C.2
Sabourin, L.3
-
10
-
-
0026523591
-
Unstable DNA sequence in myotonic dystrophy
-
Harley HG, Rundle SA, Reardon W, et al: Unstable DNA sequence in myotonic dystrophy. Lancet 1992;339:1125-1128.
-
(1992)
Lancet
, vol.339
, pp. 1125-1128
-
-
Harley, H.G.1
Rundle, S.A.2
Reardon, W.3
-
11
-
-
0027366978
-
Myotonic dystrophy: Size- and sex-dependent dyamics of CTG meiotic instability, and somatic mosaicism
-
Lavedan C, Hoffmann-Radvany H, Shelbourne P, et al: Myotonic dystrophy: Size- and sex-dependent dyamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 1993;52:875-883.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 875-883
-
-
Lavedan, C.1
Hoffmann-Radvany, H.2
Shelbourne, P.3
-
12
-
-
0027257735
-
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
-
Anvret M, Ahlberg G, Grandell U, et al: Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Molec Genet 1993;2:1397-1400.
-
(1993)
Hum Molec Genet
, vol.2
, pp. 1397-1400
-
-
Anvret, M.1
Ahlberg, G.2
Grandell, U.3
-
13
-
-
0027716510
-
Somatic instability on CTG repeat in myotonic dystrophy
-
Ashizawa T, Dubel JR, Harati Y: Somatic instability on CTG repeat in myotonic dystrophy. Neurology 1993;43:2674-2678.
-
(1993)
Neurology
, vol.43
, pp. 2674-2678
-
-
Ashizawa, T.1
Dubel, J.R.2
Harati, Y.3
-
14
-
-
0027957470
-
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
-
Thornton CA, Johnson K, Moxley RT III: Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes. Ann Neurol 1994;35:104-107.
-
(1994)
Ann Neurol
, vol.35
, pp. 104-107
-
-
Thornton, C.A.1
Johnson, K.2
Moxley III, R.T.3
-
15
-
-
0028918009
-
Minimal somatic instability of CTG repeat in congenital myotonic dystrophy
-
Tachi N, Ohya K, Chiba S, et al: Minimal somatic instability of CTG repeat in congenital myotonic dystrophy. Pediatr Neurol 1995;12:81-83.
-
(1995)
Pediatr Neurol
, vol.12
, pp. 81-83
-
-
Tachi, N.1
Ohya, K.2
Chiba, S.3
-
16
-
-
0023232637
-
Congenital myotonic dystrophy changes in muscle pathology with aging
-
Tanabe Y, Nonaka I: Congenital myotonic dystrophy changes in muscle pathology with aging. J Neurol Sci 1987;77:59-68.
-
(1987)
J Neurol Sci
, vol.77
, pp. 59-68
-
-
Tanabe, Y.1
Nonaka, I.2
-
17
-
-
0023867379
-
Immaturity of muscle fibers in the congenital form of myotonic dystrophy: Its consequences and its origin
-
Farkas-Bargeton E, Barbet JP, Dancea S, et al: Immaturity of muscle fibers in the congenital form of myotonic dystrophy: Its consequences and its origin. J Neurol Sci 1988;83:145-159.
-
(1988)
J Neurol Sci
, vol.83
, pp. 145-159
-
-
Farkas-Bargeton, E.1
Barbet, J.P.2
Dancea, S.3
|