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Items: 1 to 20 of 180

1.

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
2.

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
3.

Hyaline body myopathy.

Barohn RJ, Brumback RA, Mendell JR.

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

PMID:
7522681
4.

Hyaline body myopathy: adulthood manifestations.

Rafay MF, Halliday W, Bril V.

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

PMID:
16018165
5.

Autosomal dominant neuromuscular disease with cylindrical spirals.

Taratuto AL, Matteucci M, Barreiro C, Saccolitti M, Sevlever G.

Neuromuscul Disord. 1991;1(6):433-41.

PMID:
1822355
6.

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.

7.

Hereditary myosin myopathies.

Oldfors A.

Neuromuscul Disord. 2007 May;17(5):355-67. Epub 2007 Apr 16. Review.

PMID:
17434305
8.

Scapuloperoneal myopathy.

Todman DH, Cooke RA.

Clin Exp Neurol. 1984;20:169-74.

PMID:
6568938
9.

[Centronuclear myopathy with autosomal dominant inheritance(author's transl)].

Mortier W, Michaelis E, Becker J, Gerhard L.

Humangenetik. 1975;27(3):199-215. German.

PMID:
1150240
11.

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
12.

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
13.

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
14.

Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.

Wilhelmsen KC, Blake DM, Lynch T, Mabutas J, De Vera M, Neystat M, Bernstein M, Hirano M, Gilliam TC, Murphy PL, Sola MD, Bonilla E, Schotland DL, Hays AP, Rowland LP.

Ann Neurol. 1996 Apr;39(4):507-20. Review.

PMID:
8619529
15.

[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
16.

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.

Sobrido MJ, Fernández JM, Fontoira E, Pérez-Sousa C, Cabello A, Castro M, Teijeira S, Alvarez S, Mederer S, Rivas E, Seijo-Martínez M, Navarro C.

Brain. 2005 Jul;128(Pt 7):1716-27. Epub 2005 Apr 27.

PMID:
15857933
17.

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1485-96. Epub 2007 Apr 17.

PMID:
17439987
18.

Adult-onset autosomal recessive neurogenic scapuloperoneal syndrome.

Tandan R, Verma A, Mohire M.

J Neurol Sci. 1989 Dec;94(1-3):201-9.

PMID:
2614468
19.

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A.

Ann Neurol. 2003 Oct;54(4):494-500.

PMID:
14520662
20.

Familial myopathy with tubular aggregates associated with abnormal pupils.

Shahrizaila N, Lowe J, Wills A.

Neurology. 2004 Sep 28;63(6):1111-3.

PMID:
15452313

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