Simpson MA - Search Results

1

Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.

Hashemzadeh Chaleshtori M, Simpson MA, Farrokhi E, Dolati M, Hoghooghi Rad L, Amani Geshnigani S, Crosby AH. Hashemzadeh Chaleshtori M, et al. Among authors: simpson ma. Clin Genet. 2007 Sep;72(3):261-3. doi: 10.1111/j.1399-0004.2007.00852.x. Clin Genet. 2007. PMID: 17718865 Free article. No abstract available.

2

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. Simpson MA, et al. Clin Genet. 2009 Mar;75(3):271-6. doi: 10.1111/j.1399-0004.2008.01118.x. Clin Genet. 2009. PMID: 19250384

3

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.

4

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

Simpson MA, Cook RW, Solanki P, Patton MA, Dennis JA, Crosby AH. Simpson MA, et al. Anim Genet. 2009 Feb;40(1):42-6. doi: 10.1111/j.1365-2052.2008.01796.x. Epub 2008 Nov 11. Anim Genet. 2009. PMID: 19016676

5

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.

6

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.

7

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

8

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.

9

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN. Crosby AH, et al. Among authors: simpson ma. Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21. Am J Hum Genet. 2010. PMID: 20970105 Free PMC article.

10

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH. Dick KJ, et al. Among authors: simpson ma. Neurology. 2008 Jul 22;71(4):248-52. doi: 10.1212/01.wnl.0000319610.29522.8a. Epub 2008 May 7. Neurology. 2008. PMID: 18463364

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