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Items: 1 to 20 of 209

1.

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 3rd.

Neurology. 1994 Aug;44(8):1448-52.

PMID:
8058147
2.
3.

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.

Neuromuscul Disord. 1998 Oct;8(7):439-46.

PMID:
9829272
4.
5.

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 3rd.

Arch Neurol. 1995 Jan;52(1):25-31.

PMID:
7826272
6.

[Proximal myotonic myopathy (PROMM). Clinical variability within a family].

Eger K, Schulte-Mattler WJ, Zierz S.

Nervenarzt. 1997 Oct;68(10):839-44. German.

PMID:
9441258
7.

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.

Neurology. 1997 Jan;48(1):33-7.

PMID:
9008490
9.

The expanding clinical and genetic spectrum of the myotonic dystrophies.

Ricker K.

Acta Neurol Belg. 2000 Sep;100(3):151-5.

PMID:
11098287
10.

Myotubular myopathy associated with cataract and electrical myotonia.

Hawkes CH, Absolon MJ.

J Neurol Neurosurg Psychiatry. 1975 Aug;38(8):761-4.

11.

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.

Mastaglia FL, Harker N, Phillips BA, Day TJ, Hankey GJ, Laing NG, Fabian V, Kakulas BA.

J Neurol Neurosurg Psychiatry. 1998 Apr;64(4):543-7.

12.
13.

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum.

Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP.

Neurology. 2003 Feb 25;60(4):657-64.

PMID:
12601109
14.

Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2).

Day JW, Roelofs R, Leroy B, Pech I, Benzow K, Ranum LP.

Neuromuscul Disord. 1999 Jan;9(1):19-27.

PMID:
10063831
15.

[Proximal myotonial myopathy (PROMM): clinical and histology study].

Bassez G, Attarian S, Laforêt P, Azulay JP, Rouche A, Ferrer X, Urtizberea JA, Pellissier JF, Duboc D, Fardeau M, Pouget J, Eymard B.

Rev Neurol (Paris). 2001 Feb;157(2):209-18. French.

PMID:
11283467
16.

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

Le Ber I, Martinez M, Campion D, Laquerrière A, Bétard C, Bassez G, Girard C, Saugier-Veber P, Raux G, Sergeant N, Magnier P, Maisonobe T, Eymard B, Duyckaerts C, Delacourte A, Frebourg T, Hannequin D.

Brain. 2004 Sep;127(Pt 9):1979-92.

PMID:
15215218
17.

Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM.

Sun C, Henriksen OA, Tranebjaerg L.

Clin Genet. 1999 Dec;56(6):457-61.

PMID:
10665666
18.

Cardiac involvement in proximal myotonic myopathy.

von zur Mühlen F, Klass C, Kreuzer H, Mall G, Giese A, Reimers CD.

Heart. 1998 Jun;79(6):619-21.

19.

Hypothyroidism unmasking proximal myotonic myopathy.

Sansone V, Griggs RC, Moxley RT 3rd.

Neuromuscul Disord. 2000 Mar;10(3):165-72.

PMID:
10734262
20.

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.

Seznec H, Agbulut O, Sergeant N, Savouret C, Ghestem A, Tabti N, Willer JC, Ourth L, Duros C, Brisson E, Fouquet C, Butler-Browne G, Delacourte A, Junien C, Gourdon G.

Hum Mol Genet. 2001 Nov 1;10(23):2717-26.

PMID:
11726559

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