Lee HS - Search Results

1

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: lee hs. Nat Genet. 1998 Aug;19(4):402-3. doi: 10.1038/1300. Nat Genet. 1998. PMID: 9697706

2

Novel PRNP sequence variant associated with familial encephalopathy.

Cervenáková L, Buetefisch C, Lee HS, Taller I, Stone G, Gibbs CJ Jr, Brown P, Hallett M, Goldfarb LG. Cervenáková L, et al. Among authors: lee hs. Am J Med Genet. 1999 Dec 15;88(6):653-6. doi: 10.1002/(sici)1096-8628(19991215)88:6<653::aid-ajmg14>3.0.co;2-e. Am J Med Genet. 1999. PMID: 10581485

3

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

4

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

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: lee hs. 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

Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy.

Dagvadorj A, Petersen RB, Lee HS, Cervenakova L, Shatunov A, Budka H, Brown P, Gambetti P, Goldfarb LG. Dagvadorj A, et al. Among authors: lee hs. Ann Neurol. 2002 Sep;52(3):355-9. doi: 10.1002/ana.10267. Ann Neurol. 2002. PMID: 12205650

7

Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt-Jakob disease.

Cervenáková L, Goldfarb LG, Garruto R, Lee HS, Gajdusek DC, Brown P. Cervenáková L, et al. Among authors: lee hs. Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13239-41. doi: 10.1073/pnas.95.22.13239. Proc Natl Acad Sci U S A. 1998. PMID: 9789072 Free PMC article.

8

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.

Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, Dalakas MC, Goldfarb LG. Sambuughin N, et al. Among authors: lee hs. J Neurol Sci. 1998 Nov 26;161(1):23-8. doi: 10.1016/s0022-510x(98)00264-0. J Neurol Sci. 1998. PMID: 9879677

9

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.

Odgerel Z, Sarkozy A, Lee HS, McKenna C, Rankin J, Straub V, Lochmüller H, Paola F, D'Amico A, Bertini E, Bushby K, Goldfarb LG. Odgerel Z, et al. Among authors: lee hs. Neuromuscul Disord. 2010 Jul;20(7):438-42. doi: 10.1016/j.nmd.2010.05.004. Epub 2010 Jun 3. Neuromuscul Disord. 2010. PMID: 20605452 Free PMC article.

10

APOE in non-Alzheimer amyloidoses: transmissible spongiform encephalopathies.

Chapman J, Cervenáková L, Petersen RB, Lee HS, Estupinan J, Richardson S, Vnencak-Jones CL, Gajdusek DC, Korczyn AD, Brown P, Goldfarb LG. Chapman J, et al. Among authors: lee hs. Neurology. 1998 Aug;51(2):548-53. doi: 10.1212/wnl.51.2.548. Neurology. 1998. PMID: 9710033

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