-
1
-
-
0027982349
-
Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness and cataracts
-
Ricker K., Koch M.C., Lehmann-Horn F,et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness and cataracts. Neurology. 44:1994;1448-1452.
-
(1994)
Neurology
, vol.44
, pp. 1448-1452
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
-
2
-
-
0028837404
-
Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy
-
Ricker K., Koch M.C., Lehmann-Horn F,et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol. 52:1995;25-31.
-
(1995)
Arch Neurol
, vol.52
, pp. 25-31
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Horn, F.3
-
3
-
-
0032191690
-
54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. 10-12th October 1997. Naarden, The Netherlands.
-
Moxley III R.T. 54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. 10-12th October 1997. Naarden, The Netherlands. Neuromusc Disord. 8:1998;508-518.
-
(1998)
Neuromusc Disord
, vol.8
, pp. 508-518
-
-
Moxley R.T. III1
-
4
-
-
0026567370
-
Cloning of the essential myotonic dystrophy region and mapping of the putative defect
-
Aslanidis C., Jansen G., Amemiya C,et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature. 355:1992;548-551.
-
(1992)
Nature
, vol.355
, pp. 548-551
-
-
Aslanidis, C.1
Jansen, G.2
Amemiya, C.3
-
5
-
-
0029976445
-
Proximal myotonic myopathy: Mini-review of a recently delineated clinical disorder
-
Moxley R.T. Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder. Neuromusc Disord. 6:1996;87-93.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 87-93
-
-
Moxley, R.T.1
-
7
-
-
0031000214
-
Proximal myotonic dystrophy - A family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism - heterogeneity of proximal myotonic disorders
-
Udd B., Krahe R., Wallgren-Pettersson C., Falck B., Kalimo H. Proximal myotonic dystrophy - a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism - heterogeneity of proximal myotonic disorders. Neuromusc Disord. 7:1997;217-228.
-
(1997)
Neuromusc Disord
, vol.7
, pp. 217-228
-
-
Udd, B.1
Krahe, R.2
Wallgren-Pettersson, C.3
Falck, B.4
Kalimo, H.5
-
8
-
-
0031811594
-
Genetic mapping of a second myotonic dystrophy locus
-
Ranum L.P.W., Rasmussen P.F., Benzow K.A., Koob M.D., Day J.W. Genetic mapping of a second myotonic dystrophy locus. Nat Genet. 19:1998;196-198.
-
(1998)
Nat Genet
, vol.19
, pp. 196-198
-
-
Ranum, L.P.W.1
Rasmussen, P.F.2
Benzow, K.A.3
Koob, M.D.4
Day, J.W.5
-
9
-
-
0031037404
-
Proximal myotonic myopathy with MRI white matter abnormalities of the brain
-
Hund E., Jansen O., Koch M.C.et al. Proximal myotonic myopathy with MRI white matter abnormalities of the brain. Neurology. 48:1997;33-37.
-
(1997)
Neurology
, vol.48
, pp. 33-37
-
-
Hund, E.1
Jansen, O.2
Koch, M.C.3
-
10
-
-
0029053081
-
Steinert's disease and pregnancy. Report of a case and review of the recent literature (in French)
-
Delest A., Elhage A., Cosson M.et al. Steinert's disease and pregnancy. Report of a case and review of the recent literature (in French). J Gynecol Obstet Biol Reprod (Paris). 24:1995;177-180.
-
(1995)
J Gynecol Obstet Biol Reprod (Paris)
, vol.24
, pp. 177-180
-
-
Delest, A.1
Elhage, A.2
Cosson, M.3
-
11
-
-
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. 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. 6:1996;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
-
12
-
-
0028334933
-
Myotonic dystrophy with no trinucleotide repeat expansion
-
Thornton C.A., Griggs R.C., Moxley III R.T. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol. 35:1994;269-272.
-
(1994)
Ann Neurol
, vol.35
, pp. 269-272
-
-
Thornton, C.A.1
Griggs, R.C.2
Moxley R.T. III3
-
17
-
-
0343177759
-
Diagnostic value of opthalmologic findings in myotonic dystrophy
-
Ashizawa T., Hejtmancik T.F., Liu J., Perryman M.B., Epstein H.F., Koch D.D. Diagnostic value of opthalmologic findings in myotonic dystrophy. Am J Med Genet. 142:1992;155-160.
-
(1992)
Am J Med Genet
, vol.142
, pp. 155-160
-
-
Ashizawa, T.1
Hejtmancik, T.F.2
Liu, J.3
Perryman, M.B.4
Epstein, H.F.5
Koch, D.D.6
-
18
-
-
0021332880
-
Reproductive problems and neonatal loss in women with myotonic dystrophy
-
O'Brien T., Harper P.S. Reproductive problems and neonatal loss in women with myotonic dystrophy. J Obstet Gynaecol. 4:1984;170-173.
-
(1984)
J Obstet Gynaecol
, vol.4
, pp. 170-173
-
-
O'Brien, T.1
Harper, P.S.2
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