Sambuughin N - Search Results

1

Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE. Sambuughin N, et al. Am J Hum Genet. 2001 Jul;69(1):204-8. doi: 10.1086/321270. Epub 2001 May 29. Am J Hum Genet. 2001. PMID: 11389482 Free PMC article.

2

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.

Sambuughin N, de Bantel A, McWilliams S, Sivakumar K. Sambuughin N, et al. Neurology. 2003 Feb 11;60(3):506-8. doi: 10.1212/01.wnl.0000044048.27971.fc. Neurology. 2003. PMID: 12578939

3

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.

4

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.

Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb LG. Sambuughin N, et al. Neuromuscul Disord. 2001 Sep;11(6-7):530-7. doi: 10.1016/s0960-8966(01)00202-4. Neuromuscul Disord. 2001. PMID: 11525881

5

North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.

Sambuughin N, Sei Y, Gallagher KL, Wyre HW, Madsen D, Nelson TE, Fletcher JE, Rosenberg H, Muldoon SM. Sambuughin N, et al. Anesthesiology. 2001 Sep;95(3):594-9. doi: 10.1097/00000542-200109000-00009. Anesthesiology. 2001. PMID: 11575529 Free article.

6

Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.

McWilliams S, Nelson T, Sudo RT, Zapata-Sudo G, Batti M, Sambuughin N. McWilliams S, et al. Among authors: sambuughin n. Clin Genet. 2002 Jul;62(1):80-3. doi: 10.1034/j.1399-0004.2002.620111.x. Clin Genet. 2002. PMID: 12123492

7

Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.

Sei Y, Sambuughin NN, Davis EJ, Sachs D, Cuenca PB, Brandom BW, Tautz T, Rosenberg H, Nelson TE, Muldoon SM. Sei Y, et al. Among authors: sambuughin nn. Anesthesiology. 2004 Oct;101(4):824-30. doi: 10.1097/00000542-200410000-00005. Anesthesiology. 2004. PMID: 15448513 Free article.

8

Childhood-onset spastic paraplegia with NIPAL gene mutation.

Bien-Willner R, Sambuughin N, Holley H, Bodensteiner J, Sivakumar K. Bien-Willner R, et al. Among authors: sambuughin n. J Child Neurol. 2006 Nov;21(11):974-7. doi: 10.1177/08830738060210111501. J Child Neurol. 2006. PMID: 17092466

9

Malignant hyperthermia and apparent heat stroke.

Tobin JR, Jason DR, Challa VR, Nelson TE, Sambuughin N. Tobin JR, et al. Among authors: sambuughin n. JAMA. 2001 Jul 11;286(2):168-9. doi: 10.1001/jama.286.2.168. JAMA. 2001. PMID: 11448278 No abstract available.

10

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Sivakumar K, et al. Among authors: sambuughin n. Brain. 2005 Oct;128(Pt 10):2304-14. doi: 10.1093/brain/awh590. Epub 2005 Jul 13. Brain. 2005. PMID: 16014653

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