Sambuughin N - Search Results

1

Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population.

Mulligan CJ, Robin RW, Osier MV, Sambuughin N, Goldfarb LG, Kittles RA, Hesselbrock D, Goldman D, Long JC. Mulligan CJ, et al. Among authors: sambuughin n. Hum Genet. 2003 Sep;113(4):325-36. doi: 10.1007/s00439-003-0971-z. Epub 2003 Jul 12. Hum Genet. 2003. PMID: 12884000 Free article.

2

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

Lee HS, Sambuughin N, Cervenakova L, Chapman J, Pocchiari M, Litvak S, Qi HY, Budka H, del Ser T, Furukawa H, Brown P, Gajdusek DC, Long JC, Korczyn AD, Goldfarb LG. Lee HS, et al. Among authors: sambuughin n. Am J Hum Genet. 1999 Apr;64(4):1063-70. doi: 10.1086/302340. Am J Hum Genet. 1999. PMID: 10090891 Free PMC article.

3

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: sambuughin n. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.

4

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB, Dagvadorj A, Ji J, Zhang Y, Kimonis VE, Hardy J, Hallett M, Goldfarb LG. Shatunov A, et al. Among authors: sambuughin n. Brain. 2006 Sep;129(Pt 9):2318-31. doi: 10.1093/brain/awl120. Epub 2006 May 15. Brain. 2006. PMID: 16702189 Free article.

5

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG. Sambuughin N, et al. Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Am J Hum Genet. 2010. PMID: 21109227 Free PMC article.

6

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: sambuughin n. 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.

7

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.

Sambuughin N, Holley H, Muldoon S, Brandom BW, de Bantel AM, Tobin JR, Nelson TE, Goldfarb LG. Sambuughin N, et al. Anesthesiology. 2005 Mar;102(3):515-21. doi: 10.1097/00000542-200503000-00007. Anesthesiology. 2005. PMID: 15731587 Free article.

8

Genetic variants in potassium channels are associated with type 2 diabetes in a Mongolian population.

Odgerel Z, Lee HS, Erdenebileg N, Gandbold S, Luvsanjamba M, Sambuughin N, Sonomtseren S, Sharavdorj P, Jodov E, Altaisaikhan K, Goldfarb LG. Odgerel Z, et al. Among authors: sambuughin n. J Diabetes. 2012 Sep;4(3):238-42. doi: 10.1111/j.1753-0407.2011.00177.x. J Diabetes. 2012. PMID: 22151254 Free PMC article.

9

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

Goudeau B, Rodrigues-Lima F, Fischer D, Casteras-Simon M, Sambuughin N, de Visser M, Laforet P, Ferrer X, Chapon F, Sjöberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, Vicart P. Goudeau B, et al. Among authors: sambuughin n. Hum Mutat. 2006 Sep;27(9):906-13. doi: 10.1002/humu.20351. Hum Mutat. 2006. PMID: 16865695

10

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Pfeffer G, Sambuughin N, Olivé M, Tyndel F, Toro C, Goldfarb LG, Chinnery PF. Pfeffer G, et al. Among authors: sambuughin n. Neuromuscul Disord. 2014 Mar;24(3):241-4. doi: 10.1016/j.nmd.2013.12.001. Epub 2013 Dec 11. Neuromuscul Disord. 2014. PMID: 24444549 Free PMC article.

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