Macmillan C - Search Results

1

A "Fille du Roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians.

Laberge AM, Jomphe M, Houde L, Vezina H, Tremblay M, Desjardins B, Labuda D, St-Hilaire M, Macmillan C, Shoubridge EA, Brais B. Laberge AM, et al. Among authors: macmillan c. Am J Hum Genet. 2005 Aug;77(2):313-7. doi: 10.1086/432491. Epub 2005 Jun 13. Am J Hum Genet. 2005. PMID: 15954041 Free PMC article.

2

Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect.

Macmillan C, Johns TA, Fu K, Shoubridge EA. Macmillan C, et al. Am J Hum Genet. 2000 Jan;66(1):332-5. doi: 10.1086/302716. Am J Hum Genet. 2000. PMID: 10631164 Free PMC article. No abstract available.

3

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

Macmillan C, Kirkham T, Fu K, Allison V, Andermann E, Chitayat D, Fortier D, Gans M, Hare H, Quercia N, Zackon D, Shoubridge EA. Macmillan C, et al. Neurology. 1998 Feb;50(2):417-22. doi: 10.1212/wnl.50.2.417. Neurology. 1998. PMID: 9484365

4

Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation.

Macmillan CJ, Shoubridge EA. Macmillan CJ, et al. Pediatr Neurol. 1996 Apr;14(3):203-10. doi: 10.1016/0887-8994(96)00018-5. Pediatr Neurol. 1996. PMID: 8736403

5

Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation.

Macmillan C, Lach B, Shoubridge EA. Macmillan C, et al. Neurology. 1993 Aug;43(8):1586-90. doi: 10.1212/wnl.43.8.1586. Neurology. 1993. PMID: 8351017

6

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA. Zhu Z, et al. Among authors: macmillan c. Nat Genet. 1998 Dec;20(4):337-43. doi: 10.1038/3804. Nat Genet. 1998. PMID: 9843204

7

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P. Jaksch M, et al. Among authors: macmillan c. Neurology. 2001 Oct 23;57(8):1440-6. doi: 10.1212/wnl.57.8.1440. Neurology. 2001. PMID: 11673586

8

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G; SYNAPS Study Group; Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H. Schottlaender LV, et al. Among authors: macmillan c. Am J Hum Genet. 2020 Mar 5;106(3):412-421. doi: 10.1016/j.ajhg.2020.02.007. Am J Hum Genet. 2020. PMID: 32142645 Free PMC article.

9

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M. Freisinger P, et al. Among authors: macmillan c. J Inherit Metab Dis. 2004;27(1):67-79. doi: 10.1023/B:BOLI.0000016614.47380.2f. J Inherit Metab Dis. 2004. PMID: 14970747

10

Impairment of force generation after adenovirus-mediated gene transfer to muscle is alleviated by adenoviral gene inactivation and host CD8+ T cell deficiency.

Petrof BJ, Lochmüller H, Massie B, Yang L, Macmillan C, Zhao JE, Nalbantoglu J, Karpati G. Petrof BJ, et al. Among authors: macmillan c. Hum Gene Ther. 1996 Oct 1;7(15):1813-26. doi: 10.1089/hum.1996.7.15-1813. Hum Gene Ther. 1996. PMID: 8894673

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