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Items: 1 to 20 of 557

1.

Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.

Kesper K, Kornblum C, Reimann J, Lutterbey G, Schröder R, Wattjes MP.

Acta Neurol Scand. 2009 Aug;120(2):111-8. doi: 10.1111/j.1600-0404.2008.01129.x.

PMID:
19154541
2.

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

Paradas C, Llauger J, Diaz-Manera J, Rojas-García R, De Luna N, Iturriaga C, Márquez C, Usón M, Hankiewicz K, Gallardo E, Illa I.

Neurology. 2010 Jul 27;75(4):316-23. doi: 10.1212/WNL.0b013e3181ea1564.

PMID:
20574037
3.

Dysferlinopathy: a clinical and histopathological study of 28 patients from India.

Nalini A, Gayathri N.

Neurol India. 2008 Jul-Sep;56(3):379-85; discussion 386-7.

4.

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H.

Clin Neurol Neurosurg. 2013 Aug;115(8):1234-7. doi: 10.1016/j.clineuro.2012.11.010.

PMID:
23254335
5.

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
6.

Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF.

Diers A, Carl M, Stoltenburg-Didinger G, Vorgerd M, Spuler S.

Neuromuscul Disord. 2007 Feb;17(2):157-62.

PMID:
17129727
7.

Novel DYSF mutations in Thai patients with distal myopathy.

Liewluck T, Pongpakdee S, Witoonpanich R, Sangruchi T, Pho-Iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Sopassathit V, Phudhichareonrat S, Suthiponpaisan U, Raksadawan N, Goto K, Hayashi YK, Nishino I.

Clin Neurol Neurosurg. 2009 Sep;111(7):613-8. doi: 10.1016/j.clineuro.2009.05.001.

PMID:
19493611
8.

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):205-8.

PMID:
17698502
9.

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.

Ten Dam L, van der Kooi AJ, Rövekamp F, Linssen WH, de Visser M.

Neuromuscul Disord. 2014 Dec;24(12):1097-102. doi: 10.1016/j.nmd.2014.07.004.

PMID:
25176504
10.

[Amyloidosis in muscular dystrophy].

Carl M, Röcken C, Spuler S.

Pathologe. 2009 May;30(3):235-9. doi: 10.1007/s00292-009-1129-0. German.

PMID:
19326120
11.

Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

Szymanska S, Rokicki D, Karkucinska-Wieckowska A, Szymanska-Debinska T, Ciara E, Ploski R, Grajkowska W, Pronicki M.

Folia Neuropathol. 2014;52(4):452-6.

12.

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.

13.

Symptomatic dysferlin gene mutation carriers: characterization of two cases.

Illa I, De Luna N, Domínguez-Perles R, Rojas-García R, Paradas C, Palmer J, Márquez C, Gallano P, Gallardo E.

Neurology. 2007 Apr 17;68(16):1284-9.

PMID:
17287450
14.

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
15.

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
16.
17.

Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.

Jaiswal JK, Marlow G, Summerill G, Mahjneh I, Mueller S, Hill M, Miyake K, Haase H, Anderson LV, Richard I, Kiuru-Enari S, McNeil PL, Simon SM, Bashir R.

Traffic. 2007 Jan;8(1):77-88.

18.

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.

19.

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
20.

Dysferlinopathies.

Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N.

Neurol India. 2008 Jul-Sep;56(3):289-97. Review.

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