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Results: 1 to 20 of 100

1.

Distal myopathies.

Udd B, Griggs R.

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

PMID:
11562566
[PubMed - indexed for MEDLINE]
2.

[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
[PubMed - indexed for MEDLINE]
3.

Distal myopathies.

Illa I.

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

PMID:
10787109
[PubMed - indexed for MEDLINE]
4.

Distal myopathies.

Nonaka I.

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

PMID:
10590885
[PubMed - indexed for MEDLINE]
5.

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B.

Arch Neurol. 2007 Aug;64(8):1176-82.

PMID:
17698709
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
23050857
[PubMed]
Free PMC Article
7.

[Distal myopathies].

Pénisson-Besnier I.

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

PMID:
15034479
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

[Positional cloning of the gene for Miyoshi myopathy and limb-girdle muscular dystrophy].

Aoki M, Arahata K, Brown RH Jr.

Rinsho Shinkeigaku. 1999 Dec;39(12):1272-5. Japanese.

PMID:
10791095
[PubMed - indexed for MEDLINE]
12.

The childhood muscular dystrophies: making order out of chaos.

Tsao CY, Mendell JR.

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

PMID:
10711985
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
14762596
[PubMed - indexed for MEDLINE]
Free Article
14.

Clinical and genetic aspects of distal myopathies.

Saperstein DS, Amato AA, Barohn RJ.

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

PMID:
11745945
[PubMed - indexed for MEDLINE]
15.

[Dysferlinopathy as an extrahepatic cause for the elevation of serum transaminases].

Brüss M, Homann J, Molderings GJ.

Med Klin (Munich). 2004 Jun 15;99(6):326-9. German.

PMID:
15221058
[PubMed - indexed for MEDLINE]
16.

Congenital myopathies and related disorders.

Taratuto AL.

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

PMID:
12351999
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Congenital myopathies and congenital muscular dystrophies.

Tubridy N, Fontaine B, Eymard B.

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

PMID:
11562568
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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