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Items: 1 to 20 of 76

1.

Distal myopathies.

Udd B, Griggs R.

Curr Opin Neurol. 2001 Oct;14(5):561-6. Review.

PMID:
11562566
2.

Distal myopathies.

Illa I.

J Neurol. 2000 Mar;247(3):169-74. Review.

PMID:
10787109
3.

Distal myopathies.

Nonaka I.

Curr Opin Neurol. 1999 Oct;12(5):493-9. Review.

PMID:
10590885
4.

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report.

Neusch C, Kuhlmann T, Kress W, Schneider-Gold C.

J Med Case Rep. 2012 Oct 10;6:345. doi: 10.1186/1752-1947-6-345.

5.

[Distal myopathies].

Pénisson-Besnier I.

Rev Neurol (Paris). 2004 Feb;160(2):211-6. Review. French.

PMID:
15034479
6.

Proteomic investigation of the molecular pathophysiology of dysferlinopathy.

De Palma S, Morandi L, Mariani E, Begum S, Cerretelli P, Wait R, Gelfi C.

Proteomics. 2006 Jan;6(1):379-85.

PMID:
16302276
7.

[Dysferlinopathy. Example of a new myopathy].

Serratrice G, Pellissier JF, N'Guyen V, Attarian S, Pouget J.

Bull Acad Natl Med. 2002;186(6):1025-32; discussion 1033-4. Review. French.

PMID:
12587341
8.

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I.

Arch Neurol. 2005 Aug;62(8):1256-9.

PMID:
16087766
9.

The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries.

Kirschner J, Bönnemann CG.

Arch Neurol. 2004 Feb;61(2):189-99. Review.

PMID:
14967765
10.

The childhood muscular dystrophies: making order out of chaos.

Tsao CY, Mendell JR.

Semin Neurol. 1999;19(1):9-23. Review.

PMID:
10711985
11.

Myopathy of distal lower limbs: the clinical variant of Miyoshi.

Soares CN, de Freitas MR, Nascimento OJ, da Silva LF, de Freitas AR, Werneck LC.

Arq Neuropsiquiatr. 2003 Dec;61(4):946-9. Epub 2004 Jan 6.

12.

Clinical and genetic aspects of distal myopathies.

Saperstein DS, Amato AA, Barohn RJ.

Muscle Nerve. 2001 Nov;24(11):1440-50. Review.

PMID:
11745945
13.

Congenital myopathies and related disorders.

Taratuto AL.

Curr Opin Neurol. 2002 Oct;15(5):553-61. Review.

PMID:
12351999
14.

Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene.

Nakagawa M, Matsuzaki T, Suehara M, Kanzato N, Takashima H, Higuchi I, Matsumura T, Goto K, Arahata K, Osame M.

J Neurol Sci. 2001 Feb 15;184(1):15-9.

PMID:
11231027
15.

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.

Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK.

J Neurol Sci. 2003 Jul 15;211(1-2):23-8.

PMID:
12767493
16.

Congenital myopathies and congenital muscular dystrophies.

Tubridy N, Fontaine B, Eymard B.

Curr Opin Neurol. 2001 Oct;14(5):575-82. Review.

PMID:
11562568
17.

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, Takano R, Kawai H, Kamakura K, Mochizuki H, Shizuka-Ikeda M, Nakagawa M, Yoshida Y, Akanuma J, Hoshino K, Saito H, Nishizawa M, Kato S, Saito K, Miyachi T, Yamashita H, Kawai M, Matsumura T, Kuzuhara S, Ibi T, Sahashi K, Nakai H, Kohnosu T, Nonaka I, Arahata K, Brown RH Jr, Saito H, Itoyama Y.

Neurology. 2003 Jun 10;60(11):1799-804.

PMID:
12796534
18.

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S.

Brain. 1996 Dec;119 ( Pt 6):1895-909.

PMID:
9009996
19.

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.

McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson LV, Soffer D, Argov Z.

Am J Med Genet. 2000 Apr 10;91(4):305-12.

PMID:
10766988
20.

Late-onset distal muscular dystrophy affecting the posterior calves.

Katz JS, Rando TA, Barohn RJ, Saperstein DS, Jackson CE, Wicklund M, Amato AA.

Muscle Nerve. 2003 Oct;28(4):443-8.

PMID:
14506716

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