MacLennan DH - Search Results

1

Refined genetic localization for central core disease.

Mulley JC, Kozman HM, Phillips HA, Gedeon AK, McCure JA, Iles DE, Gregg RG, Hogan K, Couch FJ, MacLennan DH, et al. Mulley JC, et al. Among authors: maclennan dh. Am J Hum Genet. 1993 Feb;52(2):398-405. Am J Hum Genet. 1993. PMID: 8430700 Free PMC article.

2

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

Deufel T, Golla A, Iles D, Meindl A, Meitinger T, Schindelhauer D, DeVries A, Pongratz D, MacLennan DH, Johnson KJ, et al. Deufel T, et al. Among authors: maclennan dh. Am J Hum Genet. 1992 Jun;50(6):1151-61. Am J Hum Genet. 1992. PMID: 1598899 Free PMC article.

3

Multipoint mapping of the central core disease locus.

Schwemmle S, Wolff K, Palmucci LM, Grimm T, Lehmann-Horn F, Hübner C, Hauser E, Iles DE, MacLennan DH, Müller CR. Schwemmle S, et al. Among authors: maclennan dh. Genomics. 1993 Jul;17(1):205-7. doi: 10.1006/geno.1993.1302. Genomics. 1993. PMID: 8406450

4

Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.

Callen DF, Baker E, Lane S, Nancarrow J, Thompson A, Whitmore SA, MacLennan DH, Berger R, Cherif D, Järvelä I, et al. Callen DF, et al. Among authors: maclennan dh. Am J Hum Genet. 1991 Dec;49(6):1372-7. Am J Hum Genet. 1991. PMID: 1746562 Free PMC article.

5

A mutation in the human ryanodine receptor gene associated with central core disease.

Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, Britt BA, Browell AK, MacLennan DH. Zhang Y, et al. Among authors: maclennan dh. Nat Genet. 1993 Sep;5(1):46-50. doi: 10.1038/ng0993-46. Nat Genet. 1993. PMID: 8220422

6

The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.

Phillips MS, Khanna VK, De Leon S, Frodis W, Britt BA, MacLennan DH. Phillips MS, et al. Among authors: maclennan dh. Hum Mol Genet. 1994 Dec;3(12):2181-6. doi: 10.1093/hmg/3.12.2181. Hum Mol Genet. 1994. PMID: 7881417

7

A comparison of the caffeine halothane muscle contracture test with the molecular genetic diagnosis of malignant hyperthermia.

MacKenzie AE, Allen G, Lahey D, Crossan ML, Nolan K, Mettler G, Worton RG, MacLennan DH, Korneluk R. MacKenzie AE, et al. Among authors: maclennan dh. Anesthesiology. 1991 Jul;75(1):4-8. doi: 10.1097/00000542-199107000-00002. Anesthesiology. 1991. PMID: 2064058

8

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J. Monnier N, et al. Among authors: maclennan dh. Hum Mol Genet. 2000 Nov 1;9(18):2599-608. doi: 10.1093/hmg/9.18.2599. Hum Mol Genet. 2000. PMID: 11063719

9

Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.

Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, Worton RG, MacLennan DH. Gillard EF, et al. Among authors: maclennan dh. Genomics. 1992 Aug;13(4):1247-54. doi: 10.1016/0888-7543(92)90042-q. Genomics. 1992. PMID: 1354642

10

Malignant hyperthermia and central core disease: disorders of Ca2+ release channels.

Loke J, MacLennan DH. Loke J, et al. Among authors: maclennan dh. Am J Med. 1998 May;104(5):470-86. doi: 10.1016/s0002-9343(98)00108-9. Am J Med. 1998. PMID: 9626031 Review. No abstract available.

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