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Items: 16


Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice.

Pozsgai ER, Griffin DA, Heller KN, Mendell JR, Rodino-Klapac LR.

Mol Ther. 2017 Apr 5;25(4):855-869. doi: 10.1016/j.ymthe.2017.02.013. Epub 2017 Mar 9.


Neuromuscular disorders: genes, genetic counseling and therapeutic trials.

Zatz M, Passos-Bueno MR, Vainzof M.

Genet Mol Biol. 2016 Jul-Sep;39(3):339-48. doi: 10.1590/1678-4685-GMB-2016-0019.


Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.

Sandonà D, Betto R.

Expert Rev Mol Med. 2009 Sep 28;11:e28. doi: 10.1017/S1462399409001203. Review.


Stem cells from umbilical cord blood do have myogenic potential, with and without differentiation induction in vitro.

Jazedje T, Secco M, Vieira NM, Zucconi E, Gollop TR, Vainzof M, Zatz M.

J Transl Med. 2009 Jan 14;7:6. doi: 10.1186/1479-5876-7-6.


Transplanted hematopoietic stem cells demonstrate impaired sarcoglycan expression after engraftment into cardiac and skeletal muscle.

Lapidos KA, Chen YE, Earley JU, Heydemann A, Huber JM, Chien M, Ma A, McNally EM.

J Clin Invest. 2004 Dec;114(11):1577-85.


Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy.

Wheeler MT, Allikian MJ, Heydemann A, Hadhazy M, Zarnegar S, McNally EM.

J Clin Invest. 2004 Mar;113(5):668-75.


Secondary coronary artery vasospasm promotes cardiomyopathy progression.

Wheeler MT, Korcarz CE, Collins KA, Lapidos KA, Hack AA, Lyons MR, Zarnegar S, Earley JU, Lang RM, McNally EM.

Am J Pathol. 2004 Mar;164(3):1063-71.


Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.

Barresi R, Di Blasi C, Negri T, Brugnoni R, Vitali A, Felisari G, Salandi A, Daniel S, Cornelio F, Morandi L, Mora M.

J Med Genet. 2000 Feb;37(2):102-7.


Molecular organization of sarcoglycan complex in mouse myotubes in culture.

Chan YM, Bönnemann CG, Lidov HG, Kunkel LM.

J Cell Biol. 1998 Dec 28;143(7):2033-44.


Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.

Anderson LV, Davison K, Moss JA, Richard I, Fardeau M, Tomé FM, Hübner C, Lasa A, Colomer J, Beckmann JS.

Am J Pathol. 1998 Oct;153(4):1169-79.


Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin.

Hack AA, Ly CT, Jiang F, Clendenin CJ, Sigrist KS, Wollmann RL, McNally EM.

J Cell Biol. 1998 Sep 7;142(5):1279-87.


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.


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.


Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y.

Am J Hum Genet. 1997 Sep;61(3):599-610.


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.

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