SM-Youtube

1

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA. Garcia CC, et al. Among authors: buddles m. J Med Genet. 2004 Mar;41(3):183-6. doi: 10.1136/jmg.2003.013680. J Med Genet. 2004. PMID: 14985377 Free PMC article.

2

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.

Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, Venning MC, Tielemans CL, Goodship JA, Goodship TH. Richards A, et al. Among authors: buddles mr. Am J Hum Genet. 2001 Feb;68(2):485-90. doi: 10.1086/318203. Epub 2001 Jan 17. Am J Hum Genet. 2001. PMID: 11170896 Free PMC article.

3

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.

Buddles MR, Donne RL, Richards A, Goodship J, Goodship TH. Buddles MR, et al. Am J Hum Genet. 2000 May;66(5):1721-2. doi: 10.1086/302877. Am J Hum Genet. 2000. PMID: 10762557 Free PMC article. No abstract available.

4

The phenotype of limb-girdle muscular dystrophy type 2I.

Poppe M, Cree L, Bourke J, Eagle M, Anderson LV, Birchall D, Brockington M, Buddles M, Busby M, Muntoni F, Wills A, Bushby K. Poppe M, et al. Among authors: buddles m. Neurology. 2003 Apr 22;60(8):1246-51. doi: 10.1212/01.wnl.0000058902.88181.3d. Neurology. 2003. PMID: 12707425

5

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. Fratter C, et al. Among authors: buddles m. Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f. Neurology. 2010. PMID: 20479361 Free PMC article.

6

Double Trouble? CMC with a Mutation in both AIRE and STAT1.

Al Dhanhani H, Al Shehri T, Lilic D, Buddles M, Kisand K, Maccari ME, Leahy TR. Al Dhanhani H, et al. Among authors: buddles m. J Clin Immunol. 2018 Aug;38(6):635-637. doi: 10.1007/s10875-018-0536-5. Epub 2018 Jul 27. J Clin Immunol. 2018. PMID: 30054782 No abstract available.

7

Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.

O'Rourke K, Buddles MR, Farrell M, Howley R, Sukuraman S, Connolly S, Turnbull DM, Hutchinson M, Taylor RW. O'Rourke K, et al. Among authors: buddles mr. Muscle Nerve. 2009 Oct;40(4):648-51. doi: 10.1002/mus.21342. Muscle Nerve. 2009. PMID: 19618438

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