Sweeney MG - Search Results

1

Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita.

Portaro S, Musumeci O, Rizzo V, Rodolico C, Sweeney MG, Buccafusca M, Hanna MG, Toscano A. Portaro S, et al. Among authors: sweeney mg. Neuromuscul Disord. 2013 Jan;23(1):52-5. doi: 10.1016/j.nmd.2012.07.005. Epub 2012 Aug 24. Neuromuscul Disord. 2013. PMID: 22921319

2

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Suetterlin K, Matthews E, Sud R, McCall S, Fialho D, Burge J, Jayaseelan D, Haworth A, Sweeney MG, Kullmann DM, Schorge S, Hanna MG, Männikkö R. Suetterlin K, et al. Among authors: sweeney mg. Brain. 2022 Apr 18;145(2):607-620. doi: 10.1093/brain/awab344. Brain. 2022. PMID: 34529042 Free PMC article.

3

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S. Rajakulendran S, et al. Among authors: sweeney mg. PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016. PLoS One. 2016. PMID: 26735972 Free PMC article.

4

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.

Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna MG, Dallapiccola B. Brancati F, et al. Among authors: sweeney mg. J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1339-41. doi: 10.1136/jnnp.74.9.1339. J Neurol Neurosurg Psychiatry. 2003. PMID: 12933953 Free PMC article.

5

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R. Nesbitt V, et al. Among authors: sweeney mg. J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):936-8. doi: 10.1136/jnnp-2012-303528. Epub 2013 Jan 25. J Neurol Neurosurg Psychiatry. 2013. PMID: 23355809

6

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.

Tomlinson SE, Tan SV, Burke D, Labrum RW, Haworth A, Gibbons VS, Sweeney MG, Griggs RC, Kullmann DM, Bostock H, Hanna MG. Tomlinson SE, et al. Among authors: sweeney mg. Brain. 2016 Feb;139(Pt 2):380-91. doi: 10.1093/brain/awv380. Brain. 2016. PMID: 26912519 Free PMC article.

7

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM. Horga A, et al. Among authors: sweeney mg. Brain. 2014 Dec;137(Pt 12):3200-12. doi: 10.1093/brain/awu279. Epub 2014 Oct 3. Brain. 2014. PMID: 25281868 Free PMC article.

8

Increased risk of stroke in patients with the A12308G polymorphism in mitochondria.

Pulkes T, Sweeney MG, Hanna MG. Pulkes T, et al. Among authors: sweeney mg. Lancet. 2000 Dec 16;356(9247):2068-9. doi: 10.1016/s0140-6736(00)03408-5. Lancet. 2000. PMID: 11145497

9

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.

Pitceathly RD, Tomlinson SE, Hargreaves I, Bhardwaj N, Holton JL, Morrow JM, Evans J, Smith C, Fratter C, Woodward CE, Sweeney MG, Rahman S, Hanna MG. Pitceathly RD, et al. Among authors: sweeney mg. J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):107-10. doi: 10.1136/jnnp-2012-303232. Epub 2012 Aug 29. J Neurol Neurosurg Psychiatry. 2013. PMID: 22933815

10

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation.

Hanna MG, Nelson I, Sweeney MG, Cooper JM, Watkins PJ, Morgan-Hughes JA, Harding AE. Hanna MG, et al. Among authors: sweeney mg. Am J Hum Genet. 1995 May;56(5):1026-33. Am J Hum Genet. 1995. PMID: 7726155 Free PMC article.

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