Goldfarb LG - Search Results

1

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.

Goldfarb LG, Dalakas MC. Goldfarb LG, et al. J Clin Invest. 2009 Jul;119(7):1806-13. doi: 10.1172/JCI38027. Epub 2009 Jul 1. J Clin Invest. 2009. PMID: 19587455 Free PMC article. Review.

2

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

Dalakas MC, Dagvadorj A, Goudeau B, Park KY, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG. Dalakas MC, et al. Among authors: goldfarb lg. Neuromuscul Disord. 2003 Mar;13(3):252-8. doi: 10.1016/s0960-8966(02)00271-7. Neuromuscul Disord. 2003. PMID: 12609507

3

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

Dagvadorj A, Olivé M, Urtizberea JA, Halle M, Shatunov A, Bönnemann C, Park KY, Goebel HH, Ferrer I, Vicart P, Dalakas MC, Goldfarb LG. Dagvadorj A, et al. Among authors: goldfarb lg. J Neurol. 2004 Feb;251(2):143-9. doi: 10.1007/s00415-004-0289-3. J Neurol. 2004. PMID: 14991347

4

Missense mutations in desmin associated with familial cardiac and skeletal myopathy.

Goldfarb LG, Park KY, Cervenáková L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC. Goldfarb LG, et al. Nat Genet. 1998 Aug;19(4):402-3. doi: 10.1038/1300. Nat Genet. 1998. PMID: 9697706

5

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

Dalakas MC, Park KY, Semino-Mora C, Lee HS, Sivakumar K, Goldfarb LG. Dalakas MC, et al. Among authors: goldfarb lg. N Engl J Med. 2000 Mar 16;342(11):770-80. doi: 10.1056/NEJM200003163421104. N Engl J Med. 2000. PMID: 10717012 Free article.

6

Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.

Park KY, Dalakas MC, Semino-Mora C, Lee HS, Litvak S, Takeda K, Ferrans VJ, Goldfarb LG. Park KY, et al. Among authors: goldfarb lg. Clin Genet. 2000 Jun;57(6):423-9. doi: 10.1034/j.1399-0004.2000.570604.x. Clin Genet. 2000. PMID: 10905661

7

Desmin splice variants causing cardiac and skeletal myopathy.

Park KY, Dalakas MC, Goebel HH, Ferrans VJ, Semino-Mora C, Litvak S, Takeda K, Goldfarb LG. Park KY, et al. Among authors: goldfarb lg. J Med Genet. 2000 Nov;37(11):851-7. doi: 10.1136/jmg.37.11.851. J Med Genet. 2000. PMID: 11073539 Free PMC article.

8

Desmin myopathy.

Goldfarb LG, Vicart P, Goebel HH, Dalakas MC. Goldfarb LG, et al. Brain. 2004 Apr;127(Pt 4):723-34. doi: 10.1093/brain/awh033. Epub 2004 Jan 14. Brain. 2004. PMID: 14724127 Review.

9

Inclusion body myositis with human immunodeficiency virus infection: four cases with clonal expansion of viral-specific T cells.

Dalakas MC, Rakocevic G, Shatunov A, Goldfarb L, Raju R, Salajegheh M. Dalakas MC, et al. Ann Neurol. 2007 May;61(5):466-75. doi: 10.1002/ana.21103. Ann Neurol. 2007. PMID: 17366634

10

Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.

Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG. Kaminska A, et al. Among authors: goldfarb lg. Hum Genet. 2004 Feb;114(3):306-13. doi: 10.1007/s00439-003-1057-7. Epub 2003 Nov 27. Hum Genet. 2004. PMID: 14648196

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