Dalakas MC - Search Results

1

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.

Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Arikawa-Hirasawa E, et al. Among authors: dalakas mc. Am J Hum Genet. 2002 May;70(5):1368-75. doi: 10.1086/340390. Epub 2002 Apr 8. Am J Hum Genet. 2002. PMID: 11941538 Free PMC article.

2

Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

Ho NC, Sandusky S, Madike V, Francomano CA, Dalakas MC. Ho NC, et al. Among authors: dalakas mc. BMC Neurol. 2003 Jul 2;3:3. doi: 10.1186/1471-2377-3-3. Epub 2003 Jul 2. BMC Neurol. 2003. PMID: 12839625 Free PMC article.

3

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. Among authors: dalakas mc. Nat Genet. 1998 Aug;19(4):402-3. doi: 10.1038/1300. Nat Genet. 1998. PMID: 9697706

4

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: dalakas mc. 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.

5

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: dalakas mc. Clin Genet. 2000 Jun;57(6):423-9. doi: 10.1034/j.1399-0004.2000.570604.x. Clin Genet. 2000. PMID: 10905661

6

Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.

Gottlieb E, Ciccone C, Darvish D, Naiem-Cohen S, Dalakas MC, Savelkoul PJ, Krasnewich DM, Gahl WA, Huizing M. Gottlieb E, et al. Among authors: dalakas mc. Mol Genet Metab. 2005 Sep-Oct;86(1-2):244-9. doi: 10.1016/j.ymgme.2005.07.003. Mol Genet Metab. 2005. PMID: 16112887

7

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.

8

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC. Huizing M, et al. Among authors: dalakas mc. Mol Genet Metab. 2004 Mar;81(3):196-202. doi: 10.1016/j.ymgme.2003.11.012. Mol Genet Metab. 2004. PMID: 14972325

9

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. N Engl J Med. 2000 Mar 16;342(11):770-80. doi: 10.1056/NEJM200003163421104. N Engl J Med. 2000. PMID: 10717012 Free article.

10

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

Fananapazir L, Dalakas MC, Cyran F, Cohn G, Epstein ND. Fananapazir L, et al. Among authors: dalakas mc. Proc Natl Acad Sci U S A. 1993 May 1;90(9):3993-7. doi: 10.1073/pnas.90.9.3993. Proc Natl Acad Sci U S A. 1993. PMID: 8483915 Free PMC article.

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