-
1
-
-
34250550955
-
Über das klinische und anatomische Bild des Muskelschwunds der Myotoniker
-
Steinert H. Über das klinische und anatomische Bild des Muskelschwunds der Myotoniker. Dtsch Z Nervenheilkd 1909: 37: 58-104.
-
(1909)
Dtsch Z Nervenheilkd
, vol.37
, pp. 58-104
-
-
Steinert, H.1
-
2
-
-
0001739366
-
Myotonia atrophica
-
Batten FE, Gibb HP. Myotonia atrophica. Brain 1909: 32: 187-205.
-
(1909)
Brain
, vol.32
, pp. 187-205
-
-
Batten, F.E.1
Gibb, H.P.2
-
4
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ, Housman DE. Molecular basis of myotonic dystrophy: expansion 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
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..
-
5
-
-
0028331527
-
Detection of a pre-mutation in Japanese myotonic dystrophy
-
Yamagata H, Miki T, Sakoda S-I, Yamanaka N, Davies J, Shelbourne P, Kubota R, Takenaga S, Nakagawa M, Ogihara T, Johnson K. Detection of a pre-mutation in Japanese myotonic dystrophy. Hum Mol Genet 1994: 3: 819-820.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 819-820
-
-
Yamagata, H.1
Miki, T.2
Sakoda, S.-I.3
Yamanaka, N.4
Davies, J.5
Shelbourne, P.6
Kubota, R.7
Takenaga, S.8
Nakagawa, M.9
Ogihara, T.10
Johnson, K.11
-
6
-
-
0027251874
-
Origin of the expansion mutation in myotonic dystrophy
-
Imbert G, Kretz C, Johnson K, Mandel JL. Origin of the expansion mutation in myotonic dystrophy. Nat Genet 1993: 4: 72-76.
-
(1993)
Nat Genet
, vol.4
, pp. 72-76
-
-
Imbert, G.1
Kretz, C.2
Johnson, K.3
Mandel, J.L.4
-
7
-
-
0028156915
-
High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation
-
Neville CE, Mahadevan MS, Barceló JM, Korneluk RG. High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum Mol Genet 1994: 3: 45-51.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 45-51
-
-
Neville, C.E.1
Mahadevan, M.S.2
Barceló, J.M.3
Korneluk, R.G.4
-
8
-
-
0028242797
-
Simple repeat DNA is not replicated simply
-
Richards RI, Sutherland GR. Simple repeat DNA is not replicated simply. Nat Genet 1994: 6: 114-116.
-
(1994)
Nat Genet
, vol.6
, pp. 114-116
-
-
Richards, R.I.1
Sutherland, G.R.2
-
9
-
-
0028873248
-
Somatic mosaicism, germline expansion, germline reversion and intergenerational reductions in myotonic dystrophy males-small pool PCR analyses
-
Monckton DG, Wong LJC, Ashizawa T, Caskey CT. Somatic mosaicism, germline expansion, germline reversion and intergenerational reductions in myotonic dystrophy males-small pool PCR analyses. Hum Mol Genet 1995: 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
-
10
-
-
0028947051
-
De novo myotonic dystrophy mutation in a Nigerian kindred
-
Krahe R, Eckhart M, Ogunniyi AO, Osuntokun BO, Siciliano M, Ashizawa T. De novo myotonic dystrophy mutation in a Nigerian kindred. Am J Hum Genet 1995: 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.5
Ashizawa, T.6
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