-
1
-
-
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 et al (1992) 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 68:799-808
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
-
3
-
-
0031037404
-
Proximal myotonic myopathy with MRI white-matter abnormalities of the brain
-
Hund E, Jansen O, Koch MC Ricker K, Fogel W, Niedermayer N, Otto M, Kuhn E, Meinck HM (1997) Proximal myotonic myopathy with MRI white-matter abnormalities of the brain. Neurology 48:33-37
-
(1997)
Neurology
, vol.48
, pp. 33-37
-
-
Hund, E.1
Jansen, O.2
Koch, M.C.3
Ricker, K.4
Fogel, W.5
Niedermayer, N.6
Otto, M.7
Kuhn, E.8
Meinck, H.M.9
-
4
-
-
0026705098
-
The skeletal muscle chloride channel in dominant and recessive human myotonia
-
Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ (1992) The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 257:797-800
-
(1992)
Science
, vol.257
, pp. 797-800
-
-
Koch, M.C.1
Steinmeyer, K.2
Lorenz, C.3
Ricker, K.4
Wolf, F.5
Otto, M.6
Zoll, B.7
Lehmann-Horn, F.8
Grzeschik, K.H.9
Jentsch, T.J.10
-
5
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
Mahadevan M, Tsilfidis C, Sabourin L et al (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
-
6
-
-
0029945035
-
A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): A challenge for future molecular studies
-
Meola G, Sansone V, Radice S, Skradski S, Ptacek L (1996) A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromusc Disord 6:143-150
-
(1996)
Neuromusc Disord
, vol.6
, pp. 143-150
-
-
Meola, G.1
Sansone, V.2
Radice, S.3
Skradski, S.4
Ptacek, L.5
-
7
-
-
0029976445
-
Proximal myotonic myopathy: Mini-review of a recently delineated clinical disorder
-
Moxley RT (1996) Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder. Neuromusc Disord 6:87-93
-
(1996)
Neuromusc Disord
, vol.6
, pp. 87-93
-
-
Moxley, R.T.1
-
8
-
-
0027982349
-
Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
-
Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley RT (1994) Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44:1448-1452
-
(1994)
Neurology
, vol.44
, pp. 1448-1452
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
Pongratz, D.4
Otto, M.5
Heine, R.6
Moxley, R.T.7
-
9
-
-
0028837404
-
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy
-
Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Speich N, Reiners K, Schneider C, Moxley RT (1995) Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 52:25-31
-
(1995)
Arch Neurol
, vol.52
, pp. 25-31
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
Pongratz, D.4
Speich, N.5
Reiners, K.6
Schneider, C.7
Moxley, R.T.8
-
11
-
-
0029025584
-
Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions
-
Stoll G, von Giesen HJ, Koch MC, Arendt G, Benecke R (1995) Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions. Muscle Nerve 18:782-783
-
(1995)
Muscle Nerve
, vol.18
, pp. 782-783
-
-
Stoll, G.1
Von Giesen, H.J.2
Koch, M.C.3
Arendt, G.4
Benecke, R.5
-
12
-
-
0028334933
-
Myotonic dystrophy with no trinucleotide repeat expansion
-
Thornton CA, Griggs RC, Moxley RT (1994) Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 35:269-272
-
(1994)
Ann Neurol
, vol.35
, pp. 269-272
-
-
Thornton, C.A.1
Griggs, R.C.2
Moxley, R.T.3
|