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Items: 1 to 20 of 117

1.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.

Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr.

Neurology. 2001 Jul 24;57(2):271-8.

PMID:
11468312
2.

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr.

Nat Genet. 1998 Sep;20(1):31-6.

PMID:
9731526
3.

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Béroud C, Urtizberea A, Eymard B, Leturcq F, Lévy N.

Hum Mutat. 2005 Aug;26(2):165.

PMID:
16010686
4.

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
5.

[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
6.

Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, Nylen E, Sukhorukov VS, Poleshchuk VV, Markova ED, Wrogemann K.

Neurology. 2000 Dec 26;55(12):1931-3.

PMID:
11134403
7.

Dysferlin protein analysis in limb-girdle muscular dystrophies.

Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M.

J Mol Neurosci. 2001 Aug;17(1):71-80.

PMID:
11665864
8.

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, Robinson PN, Kress W, Osterziel KJ, Spuler S.

Hum Mutat. 2006 Jun;27(6):599-600.

PMID:
16705711
9.
10.

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V.

Eur J Hum Genet. 2011 Sep;19(9):974-80. doi: 10.1038/ejhg.2011.70.

11.

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
12.

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

Weiler T, Bashir R, Anderson LV, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby CR, Wrogemann K.

Hum Mol Genet. 1999 May;8(5):871-7.

PMID:
10196377
13.

Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.

Ro LS, Lee-Chen GJ, Lin TC, Wu YR, Chen CM, Lin CY, Chen ST.

Arch Neurol. 2004 Oct;61(10):1594-9.

PMID:
15477515
14.

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

Kawabe K, Goto K, Nishino I, Angelini C, Hayashi YK.

Eur J Neurol. 2004 Oct;11(10):657-61.

PMID:
15469449
15.

A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy.

Ueyama H, Kumamoto T, Nagao S, Masuda T, Horinouchi H, Fujimoto S, Tsuda T.

Neuromuscul Disord. 2001 Mar;11(2):139-45.

PMID:
11257469
16.

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
17.

Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy.

Shunchang S, Fan Q, Huacheng W, Leturcq F, Yongjian S, Bingfeng Z, Wen Y, Deburgrave N.

Clin Neurol Neurosurg. 2006 Jun;108(4):369-73.

PMID:
16023782
18.

Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].

Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA.

Muscle Nerve. 2013 May;47(5):740-7. doi: 10.1002/mus.23666. Erratum in: Muscle Nerve. 2013 Aug;48(2):310.

PMID:
23519732
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.

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
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