-
1
-
-
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 III: Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;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. III7
-
2
-
-
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 III: Proximal myotonic myopathy: Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995; 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. III8
-
3
-
-
0029976445
-
Proximal myotonic myopathy: Mini-review of a recently delineated clinical disorder
-
Moxley RT III: Proximal myotonic myopathy: Mini-review of a recently delineated clinical disorder. Neuromuscul Disord 1996;6:87-93.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 87-93
-
-
Moxley R.T. III1
-
4
-
-
0032191690
-
54th ENMC international workshop: PROMM (proximal myotonic myopathy) and other proximal myotonic syndromes
-
54th ENMC International Workshop: PROMM (proximal myotonic myopathy) and other proximal myotonic syndromes. Neuromuscul Disord 1998;8:508-518.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 508-518
-
-
-
5
-
-
0032923704
-
Linkage of proximal myotonic myopathy to chromosome 3q
-
Ricker K, Grimm T, Koch MC, Schneider C, Kress W, Reimers CD, Schulte-Mattler W, Mueller-Myhsok B, Toyka KV, Mueller CR: Linkage of proximal myotonic myopathy to chromosome 3q. Neurology 1999;52:170-171.
-
(1999)
Neurology
, vol.52
, pp. 170-171
-
-
Ricker, K.1
Grimm, T.2
Koch, M.C.3
Schneider, C.4
Kress, W.5
Reimers, C.D.6
Schulte-Mattler, W.7
Mueller-Myhsok, B.8
Toyka, K.V.9
Mueller, C.R.10
-
6
-
-
0028334933
-
Myotonic dystrophy with no trinucleotidc repeat expansion
-
Thornton CA, Griggs RC, Moxley RT III: Myotonic dystrophy with no trinucleotidc repeat expansion. Ann Neurol 1994;35:269-272.
-
(1994)
Ann Neurol
, vol.35
, pp. 269-272
-
-
Thornton, C.A.1
Griggs, R.C.2
Moxley R.T. III3
-
7
-
-
0028006941
-
Thornton-Griggs-Moxley disease: Myotonic dystrophy type 2
-
Rowland LP: Thornton-Griggs-Moxley disease: Myotonic dystrophy type 2. Ann Neurol 1994;36:803-804.
-
(1994)
Ann Neurol
, vol.36
, pp. 803-804
-
-
Rowland, L.P.1
-
8
-
-
0029025584
-
Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansion
-
Stoll G, von Giesen HJ, Koch MC, Arendt G, Benecke R: Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansion. Muscle Nerve 1995;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
-
9
-
-
0030254878
-
A newly-described myotonic disorder (proximal myotonic myopathy -PROMM): Personal experience and review of the literature
-
Meola G, Sansone V: A newly-described myotonic disorder (proximal myotonic myopathy -PROMM): Personal experience and review of the literature. Ital J Neurol Sci 1996;17:347-353.
-
(1996)
Ital J Neurol Sci
, vol.17
, pp. 347-353
-
-
Meola, G.1
Sansone, V.2
-
10
-
-
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. Neuromuscul Disord 1996;6:143-150.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 143-150
-
-
Meola, G.1
Sansone, V.2
Radice, S.3
Skradski, S.4
Ptacek, L.5
-
11
-
-
0030668072
-
Proximal myotonic myopathy (PROMM). Clinical variability within a family
-
Eger K, Schulte-Mattler WJ, Zierz S: Proximal myotonic myopathy (PROMM). Clinical variability within a family. Nervenarzt 1997;68: 839-844.
-
(1997)
Nervenarzt
, vol.68
, pp. 839-844
-
-
Eger, K.1
Schulte-Mattler, W.J.2
Zierz, S.3
-
13
-
-
0005488328
-
Proximal myotonic myopathy: A report of a kindred
-
Nestor P, Dennett X, Day B: Proximal myotonic myopathy: A report of a kindred. J Clin Neurosci 1998;5:218-220.
-
(1998)
J Clin Neurosci
, vol.5
, pp. 218-220
-
-
Nestor, P.1
Dennett, X.2
Day, B.3
-
14
-
-
0032192323
-
PROMM: The expanding phenotype. A family with proximal myopathy, myotonia and deafness
-
Phillips MF, Rogers MT, Barnetson R, Braun C, Harley HG, Myring J, Stevens D, Wiles CM, Harper PS: PROMM: The expanding phenotype. A family with proximal myopathy, myotonia and deafness. Neuromuscul Disord 1998; 8:439-446.
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 439-446
-
-
Phillips, M.F.1
Rogers, M.T.2
Barnetson, R.3
Braun, C.4
Harley, H.G.5
Myring, J.6
Stevens, D.7
Wiles, C.M.8
Harper, P.S.9
-
15
-
-
0031037404
-
Proximal myotonic myopathy with MRI white matter abnormalities of the brain
-
Hund E, Jansen O, Koch MC, Ricker K, Fogel W, Niedermaier N, Otto M, Kuhn E, Meinck HM: Proximal myotonic myopathy with MRI white matter abnormalities of the brain. Neurology 1997;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
Niedermaier, N.6
Otto, M.7
Kuhn, E.8
Meinck, H.M.9
-
16
-
-
0031000214
-
Proximal myotonic dystrophy -a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes?
-
Udd B, Krahe R, Wallgren-Pettersson C, Falek B, Kalimo H: Proximal myotonic dystrophy -A family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 1997;7:217-228.
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 217-228
-
-
Udd, B.1
Krahe, R.2
Wallgren-Pettersson, C.3
Falek, B.4
Kalimo, H.5
-
17
-
-
0031811594
-
Genetic mapping of a second myotonic dystrophy locus
-
Ranum LPW, Rasmussen PF, Benzow KA, Koob MD, Day JW: Genetic mapping of a second myotonic dystrophy locus. Nat Genet 1998;19:196-198.
-
(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
|