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Items: 1 to 20 of 135

1.

Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings.

Bohlega S, Lach B, Meyer BF, Al Said Y, Kambouris M, Al Homsi M, Cupler EJ.

Neurology. 2003 Dec 9;61(11):1519-23.

PMID:
14663035
2.

Hyaline body myopathy: adulthood manifestations.

Rafay MF, Halliday W, Bril V.

Can J Neurol Sci. 2005 May;32(2):253-6.

PMID:
16018165
3.

Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology.

Masuzugawa S, Kuzuhara S, Narita Y, Naito Y, Taniguchi A, Ibi T.

Neurology. 1997 Jan;48(1):253-7.

PMID:
9008527
4.

Hyaline body myopathy.

Barohn RJ, Brumback RA, Mendell JR.

Neuromuscul Disord. 1994 May;4(3):257-62.

PMID:
7522681
5.

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

Selcen D, Ohno K, Engel AG.

Brain. 2004 Feb;127(Pt 2):439-51. Epub 2004 Jan 7.

PMID:
14711882
6.

Gene-related protein surplus myopathies.

Goebel HH, Warlo I.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):267-75. Review.

PMID:
11001821
7.

[Autosomal dominant distal myopathy with rimmed vacuoles and cytoplasmic inclusions: report of a family].

Uesaka Y, Nakamichi K, Kojima S, Ida M, Takagi A.

Rinsho Shinkeigaku. 1997 Jan;37(1):1-6. Japanese.

PMID:
9146065
8.

Spheroid body myopathy revisited.

Goebel HH, D'Agostino AN, Wilson J, Cole G, Foroud T, Koller D, Farlow M, Azzarelli B, Muller J.

Muscle Nerve. 1997 Sep;20(9):1127-36.

PMID:
9270668
9.

Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literature.

Wanschit J, Nakano S, Goudeau B, Ströbel T, Rinner W, Wimmer G, Resch H, Jaksch M, Akiguchi I, Vicart P, Budka H.

Clin Neuropathol. 2002 Sep-Oct;21(5):220-31. Review.

PMID:
12365725
10.

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield LK, De Girolami U, Iannaccone ST, Laing NG, North KN, Beggs AH.

Neurology. 2003 Feb 25;60(4):665-73.

PMID:
12601110
11.

Familial cardioneuromyopathy with hyaline masses and nemaline rods: a novel phenotype.

Selcen D, Krueger BR, Engel AG.

Ann Neurol. 2002 Feb;51(2):224-34.

PMID:
11835379
12.

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.

Laing NG, Ceuterick-de Groote C, Dye DE, Liyanage K, Duff RM, Dubois B, Robberecht W, Sciot R, Martin JJ, Goebel HH.

Neurology. 2005 Feb 8;64(3):527-9.

PMID:
15699387
13.

Dominantly inherited cytoplasmic body myopathy in a Japanese kindred.

Abe K, Kobayashi K, Chida K, Kimura N, Kogure K.

Tohoku J Exp Med. 1993 Aug;170(4):261-72.

14.

Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32.

Onengüt S, Uğur SA, Karasoy H, Yüceyar N, Tolun A.

Neuromuscul Disord. 2004 Jan;14(1):4-9.

PMID:
14659406
15.

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.

Hutchinson DO, Charlton A, Laing NG, Ilkovski B, North KN.

Neuromuscul Disord. 2006 Feb;16(2):113-21. Epub 2006 Jan 19.

PMID:
16427282
16.

The role of muscle biopsy in investigating isolated muscle pain.

Filosto M, Tonin P, Vattemi G, Bertolasi L, Simonati A, Rizzuto N, Tomelleri G.

Neurology. 2007 Jan 16;68(3):181-6.

PMID:
17224570
17.

Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy.

Ceuterick C, Martin JJ, Martens C.

Clin Neuropathol. 1993 Mar-Apr;12(2):79-83.

PMID:
7682901
18.

Hereditary distal myopathy with granulo-filamentous cytoplasmic inclusions containing desmin, dystrophin and vimentin.

Helliwell TR, Green AR, Green A, Edwards RH.

J Neurol Sci. 1994 Jul;124(2):174-87.

PMID:
7964869
19.

Analysis of muscle proteins in acute quadriplegic myopathy.

Matsumoto N, Nakamura T, Yasui Y, Torii J.

Muscle Nerve. 2000 Aug;23(8):1270-6.

PMID:
10918267
20.

A mutation in myotilin causes spheroid body myopathy.

Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC.

Neurology. 2005 Dec 27;65(12):1936-40.

PMID:
16380616

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