Dalakas MC - Search Results

1

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.

Toro C, Olivé M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, Vidal N, Farrero E, Sambuughin N, Goldfarb LG. Toro C, et al. Among authors: dalakas mc. BMC Neurol. 2013 Mar 20;13:29. doi: 10.1186/1471-2377-13-29. BMC Neurol. 2013. PMID: 23514108 Free PMC article.

2

Desmin myopathy.

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

3

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. Neuromuscul Disord. 2003 Mar;13(3):252-8. doi: 10.1016/s0960-8966(02)00271-7. Neuromuscul Disord. 2003. PMID: 12609507

4

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: dalakas mc. J Neurol. 2004 Feb;251(2):143-9. doi: 10.1007/s00415-004-0289-3. J Neurol. 2004. PMID: 14991347

5

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG. Shatunov A, et al. Among authors: dalakas mc. Eur J Hum Genet. 2009 May;17(5):656-63. doi: 10.1038/ejhg.2008.226. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050726 Free PMC article.

6

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

Goldfarb LG, Dalakas MC. Goldfarb LG, et al. Among authors: dalakas mc. 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.

7

Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy.

Sivakumar K, Cervenáková L, Dalakas MC, Leon-Monzon M, Isaacson SH, Nagle JW, Vasconcelos O, Goldfarb LG. Sivakumar K, et al. Among authors: dalakas mc. Ann Neurol. 1995 Aug;38(2):267-9. doi: 10.1002/ana.410380222. Ann Neurol. 1995. PMID: 7654077

8

Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation.

Sivakumar K, Vasconcelos O, Goldfarb L, Dalakas MC. Sivakumar K, et al. Among authors: dalakas mc. Neurology. 1996 May;46(5):1337-42. doi: 10.1212/wnl.46.5.1337. Neurology. 1996. PMID: 8628478

9

The spectrum of familial inclusion body myopathies in 13 families and a description of a quadriceps-sparing phenotype in non-Iranian Jews.

Sivakumar K, Dalakas MC. Sivakumar K, et al. Among authors: dalakas mc. Neurology. 1996 Oct;47(4):977-84. doi: 10.1212/wnl.47.4.977. Neurology. 1996. PMID: 8857730

10

Inclusion body myositis and myopathies.

Sivakumar K, Dalakas MC. Sivakumar K, et al. Among authors: dalakas mc. Curr Opin Neurol. 1997 Oct;10(5):413-20. doi: 10.1097/00019052-199710000-00010. Curr Opin Neurol. 1997. PMID: 9330888 Review.

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