-
1
-
-
0028275968
-
Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy
-
Barcelo JM, Pluscauskas M, MacKenzie AE, Tsifildis C, Narang M, Korneluk RG (1994) Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy. Am J Hum Genet 54:1124-1125
-
(1994)
Am J Hum Genet
, vol.54
, pp. 1124-1125
-
-
Barcelo, J.M.1
Pluscauskas, M.2
MacKenzie, A.E.3
Tsifildis, C.4
Narang, M.5
Korneluk, R.G.6
-
2
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of trinucleotide (CTG) repeat at the 3-prime end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG et al (1992) Molecular basis of myotonic dystrophy: expansion of trinucleotide (CTG) repeat at the 3-prime 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
-
3
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton J, Shelbourne P, Davies J et al (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 335:547-548
-
(1992)
Nature
, vol.335
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
-
4
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic dystrophy
-
Fu YH, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Nasser GA, Ashizaqa T, de Jong P, Wieringa B, Korneluk R, Perryman MB, Epstein HF, Caskey CT (1992) An unstable triplet repeat in a gene related to myotonic dystrophy. Science 255:1256-1258
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwick, R.G.3
King, J.4
Rajnarayan, S.5
Dunne, P.W.6
Nasser, G.A.7
Ashizaqa, T.8
De Jong, P.9
Wieringa, B.10
Korneluk, R.11
Perryman, M.B.12
Epstein, H.F.13
Caskey, C.T.14
-
5
-
-
0029807830
-
Prediction of myotonic dystrophy clinical severity based on the number of intragenic (CTG)n trinucleotide repeats
-
Gennarelli M, Novelli G, Bassi FA, Martorell L, Cornet M, Menegazzo E, Mostacciuolo ML, Martinez JM, Angelini C, Pizzuti M, Baiget M, Dallapiccola B (1996) Prediction of myotonic dystrophy clinical severity based on the number of intragenic (CTG)n trinucleotide repeats. Am J Med Gen 65:342-347
-
(1996)
Am J Med Gen
, vol.65
, pp. 342-347
-
-
Gennarelli, M.1
Novelli, G.2
Bassi, F.A.3
Martorell, L.4
Cornet, M.5
Menegazzo, E.6
Mostacciuolo, M.L.7
Martinez, J.M.8
Angelini, C.9
Pizzuti, M.10
Baiget, M.11
Dallapiccola, B.12
-
6
-
-
0027480184
-
Congenital myotonic dystrophy: A report on thirteen cases and a review of the literature
-
Hageman AT, Gabreels FJ, Liem KD, Renkawek K, Boon JM (1993) Congenital myotonic dystrophy: a report on thirteen cases and a review of the literature. J Neurol Sci 115:95-101
-
(1993)
J Neurol Sci
, vol.115
, pp. 95-101
-
-
Hageman, A.T.1
Gabreels, F.J.2
Liem, K.D.3
Renkawek, K.4
Boon, J.M.5
-
7
-
-
0026601924
-
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
-
Harley HG, Brook D, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Howman DA, Shaw DJ (1992) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355:545-548
-
(1992)
Nature
, vol.355
, pp. 545-548
-
-
Harley, H.G.1
Brook, D.2
Rundle, S.A.3
Crow, S.4
Reardon, W.5
Buckler, A.J.6
Harper, P.S.7
Howman, D.A.8
Shaw, D.J.9
-
8
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, Reardon W, Fenton I, Shaw DJ, Harper PS (1993) Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Gen 52:1164-1174
-
(1993)
Am J Hum Gen
, vol.52
, pp. 1164-1174
-
-
Harley, H.G.1
Rundle, S.A.2
MacMillan, J.C.3
Myring, J.4
Brook, J.D.5
Crow, S.6
Reardon, W.7
Fenton, I.8
Shaw, D.J.9
Harper, P.S.10
-
10
-
-
0026457624
-
The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy
-
Hunter A, Tsifildis C, Mettler G, Jacob P, Mahadevan M, Surh L, Korneluk R (1992) The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy. J Med Genet 29:774-779
-
(1992)
J Med Genet
, vol.29
, pp. 774-779
-
-
Hunter, A.1
Tsifildis, C.2
Mettler, G.3
Jacob, P.4
Mahadevan, M.5
Surh, L.6
Korneluk, R.7
-
12
-
-
0027366978
-
Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism
-
Lavedon C, Hofmann-Radvanyi H, Shelbourne P et al (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
-
-
Lavedon, C.1
Hofmann-Radvanyi, H.2
Shelbourne, P.3
-
13
-
-
0026556498
-
Myotonic dystrophy: Clinical assessment of muscular disability in an isolated population with presumed homogenous mutation
-
Mathieu J, De Braekeleer M, PrCvost C, Boily C (1992) Myotonic dystrophy: clinical assessment of muscular disability in an isolated population with presumed homogenous mutation. Neurology 42:203-209
-
(1992)
Neurology
, vol.42
, pp. 203-209
-
-
Mathieu, J.1
De Braekeleer, M.2
PrCvost, C.3
Boily, C.4
-
14
-
-
0027498921
-
The natural history of congenital myotonic dystrophy: Mortality and long term clinical aspects
-
Reardon W, Newcombe R, Fenton I, Sibert J, Harper PS (1993) The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child 68:177-181
-
(1993)
Arch Dis Child
, vol.68
, pp. 177-181
-
-
Reardon, W.1
Newcombe, R.2
Fenton, I.3
Sibert, J.4
Harper, P.S.5
-
15
-
-
0027940625
-
Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy
-
Roig M, Balliu PR, Navarro C, Brugera R, Losada M (1994) Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol 11:208-213
-
(1994)
Pediatr Neurol
, vol.11
, pp. 208-213
-
-
Roig, M.1
Balliu, P.R.2
Navarro, C.3
Brugera, R.4
Losada, M.5
-
16
-
-
0030957518
-
Myotonic dystrophy: The role of large triplet repeat length in the development of mental retardation
-
Spranger M, Spranger S, Kircheisen R, Tischendorf M, Meinck H-M (1997) Myotonic dystrophy: the role of large triplet repeat length in the development of mental retardation. Arch Neurol 54:251-254
-
(1997)
Arch Neurol
, vol.54
, pp. 251-254
-
-
Spranger, M.1
Spranger, S.2
Kircheisen, R.3
Tischendorf, M.4
Meinck, H.-M.5
-
17
-
-
0027957470
-
Myotonic dystrophy patients have larger CTG expansion in skeletal muscle than in leukocytes
-
Thornton CA, Johnson KJ, Moxley RT (1994) Myotonic dystrophy patients have larger CTG expansion in skeletal muscle than in leukocytes. Ann Neurol 35:104-107
-
(1994)
Ann Neurol
, vol.35
, pp. 104-107
-
-
Thornton, C.A.1
Johnson, K.J.2
Moxley, R.T.3
-
18
-
-
0026879229
-
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy
-
Tsilfildis C, Mackenzie AE, Mettler G, Barcelo J, Korneluk RG (1992) Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet 1:192-195
-
(1992)
Nat Genet
, vol.1
, pp. 192-195
-
-
Tsilfildis, C.1
Mackenzie, A.E.2
Mettler, G.3
Barcelo, J.4
Korneluk, R.G.5
-
19
-
-
0028213423
-
Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification
-
Turnpenny P, Clark C, Kelly K (1994) Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Genet 31:300-305
-
(1994)
J Med Genet
, vol.31
, pp. 300-305
-
-
Turnpenny, P.1
Clark, C.2
Kelly, K.3
|