Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 23

1.

Screening two mutations in the dysferlin gene by exon capture and sequence analysis: A case report.

Wang X, Yang Y, Zhou R.

Exp Ther Med. 2016 Jul;12(1):41-44. Epub 2016 May 11.

2.

Upregulated IL-1β in dysferlin-deficient muscle attenuates regeneration by blunting the response to pro-inflammatory macrophages.

Cohen TV, Many GM, Fleming BD, Gnocchi VF, Ghimbovschi S, Mosser DM, Hoffman EP, Partridge TA.

Skelet Muscle. 2015 Aug 7;5:24. doi: 10.1186/s13395-015-0048-4. eCollection 2015.

3.

Myogenesis in dysferlin-deficient myoblasts is inhibited by an intrinsic inflammatory response.

Cohen TV, Cohen JE, Partridge TA.

Neuromuscul Disord. 2012 Jul;22(7):648-58. doi: 10.1016/j.nmd.2012.03.002. Epub 2012 May 3.

4.

Membrane wounding triggers ATP release and dysferlin-mediated intercellular calcium signaling.

Covian-Nares JF, Koushik SV, Puhl HL 3rd, Vogel SS.

J Cell Sci. 2010 Jun 1;123(Pt 11):1884-93. doi: 10.1242/jcs.066084. Epub 2010 May 4.

5.

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.

Dinçer P, Akçören Z, Demir E, Richard I, Sancak O, Kale G, Ozme S, Karaduman A, Tan E, Urtizberea JA, Beckmann JS, Topaloğlu H.

J Med Genet. 2000 May;37(5):361-7.

6.

Calpainopathy-a survey of mutations and polymorphisms.

Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, Beckmann JS.

Am J Hum Genet. 1999 Jun;64(6):1524-40.

7.

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.

Nicolao P, Xiang F, Gunnarsson LG, Giometto B, Edström L, Anvret M, Zhang Z.

Am J Hum Genet. 1999 Mar;64(3):788-92.

8.

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.

Speer MC, Vance JM, Grubber JM, Lennon Graham F, Stajich JM, Viles KD, Rogala A, McMichael R, Chutkow J, Goldsmith C, Tim RW, Pericak-Vance MA.

Am J Hum Genet. 1999 Feb;64(2):556-62.

9.

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.

Feit H, Silbergleit A, Schneider LB, Gutierrez JA, Fitoussi RP, Réyès C, Rouleau GA, Brais B, Jackson CE, Beckmann JS, Seboun E.

Am J Hum Genet. 1998 Dec;63(6):1732-42.

10.

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.

Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K.

Am J Hum Genet. 1998 Jul;63(1):140-7.

12.

The heart in limb girdle muscular dystrophy.

van der Kooi AJ, de Voogt WG, Barth PG, Busch HF, Jennekens FG, Jongen PJ, de Visser M.

Heart. 1998 Jan;79(1):73-7.

13.

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L.

Am J Hum Genet. 1998 Mar;62(3):620-6.

14.

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

Fanin M, Duggan DJ, Mostacciuolo ML, Martinello F, Freda MP, Sorarù G, Trevisan CP, Hoffman EP, Angelini C.

J Med Genet. 1997 Dec;34(12):973-7.

15.

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.

Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR.

Am J Hum Genet. 1997 Jul;61(1):151-9.

16.

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS.

Am J Hum Genet. 1997 May;60(5):1128-38.

17.

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA.

Am J Hum Genet. 1997 Apr;60(4):891-5.

18.

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K, Zatz M.

J Med Genet. 1996 Feb;33(2):97-102.

19.
20.

Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.

Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K.

Am J Hum Genet. 1996 Oct;59(4):872-8.

Items per page

Supplemental Content

Write to the Help Desk