Simpson MA - Search Results

1

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Harlalka GV, et al. Among authors: simpson ma. Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30. Hum Mutat. 2016. PMID: 27492651

2

Diagnostic strategies in CADASIL.

Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH, Powell JF. Markus HS, et al. Among authors: simpson ma. Neurology. 2002 Oct 22;59(8):1134-8. doi: 10.1212/wnl.59.8.1134. Neurology. 2002. PMID: 12395806

3

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH. Simpson MA, et al. Am J Hum Genet. 2003 Nov;73(5):1147-56. doi: 10.1086/379522. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564668 Free PMC article.

4

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH. Simpson MA, et al. Nat Genet. 2004 Nov;36(11):1225-9. doi: 10.1038/ng1460. Epub 2004 Oct 24. Nat Genet. 2004. PMID: 15502825 Free article.

5

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.

Wilkinson PA, Simpson MA, Bastaki L, Patel H, Reed JA, Kalidas K, Samilchuk E, Khan R, Warner TT, Crosby AH. Wilkinson PA, et al. Among authors: simpson ma. J Med Genet. 2005 Jan;42(1):80-2. doi: 10.1136/jmg.2004.020172. J Med Genet. 2005. PMID: 15635080 Free PMC article. No abstract available.

6

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT. Reed JA, et al. Among authors: simpson ma. Neurogenetics. 2005 May;6(2):79-84. doi: 10.1007/s10048-004-0209-9. Epub 2005 Feb 12. Neurogenetics. 2005. PMID: 15711826

7

Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.

Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ. Norman M, et al. Circulation. 2005 Aug 2;112(5):636-42. doi: 10.1161/CIRCULATIONAHA.104.532234. Circulation. 2005. PMID: 16061754

8

Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.

Brockmann K, Simpson MA, Faber A, Bönnemann C, Crosby AH, Gärtner J. Brockmann K, et al. Among authors: simpson ma. Neuropediatrics. 2005 Aug;36(4):274-8. doi: 10.1055/s-2005-872809. Neuropediatrics. 2005. PMID: 16138254

9

Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.

Robay D, Patel H, Simpson MA, Brown NA, Crosby AH. Robay D, et al. Among authors: simpson ma. Exp Cell Res. 2006 Sep 10;312(15):2764-77. doi: 10.1016/j.yexcr.2006.05.003. Epub 2006 May 13. Exp Cell Res. 2006. PMID: 16781711

10

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH. Simpson MA, et al. Am J Hum Genet. 2007 Nov;81(5):906-12. doi: 10.1086/522240. Epub 2007 Sep 14. Am J Hum Genet. 2007. PMID: 17924334 Free PMC article.

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