Delatycki MB - Search Results

1

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ. Sim JC, et al. Among authors: delatycki mb. Ann Neurol. 2016 Jan;79(1):132-7. doi: 10.1002/ana.24502. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26285051

2

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.

Amor DJ, Delatycki MB, Gardner RJ, Storey E. Amor DJ, et al. Among authors: delatycki mb. Am J Med Genet. 2001 Feb 15;99(1):29-33. doi: 10.1002/1096-8628(20010215)99:1<29::aid-ajmg1119>3.0.co;2-q. Am J Med Genet. 2001. PMID: 11170090 Review.

3

Genetic factors in athetoid cerebral palsy.

Amor DJ, Craig JE, Delatycki MB, Reddihough D. Amor DJ, et al. Among authors: delatycki mb. J Child Neurol. 2001 Nov;16(11):793-7. doi: 10.1177/08830738010160110301. J Child Neurol. 2001. PMID: 11732763

4

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.

Fahey MC, Knight MA, Shaw JH, Gardner RJ, du Sart D, Lockhart PJ, Delatycki MB, Gates PC, Storey E. Fahey MC, et al. Among authors: delatycki mb. J Neurol Neurosurg Psychiatry. 2005 Dec;76(12):1720-2. doi: 10.1136/jnnp.2004.044115. J Neurol Neurosurg Psychiatry. 2005. PMID: 16291902 Free PMC article.

5

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability.

Snape KM, Fahey MC, McGillivray G, Gupta P, Milewicz DM, Delatycki MB. Snape KM, et al. Among authors: delatycki mb. Clin Dysmorphol. 2006 Apr;15(2):95-9. doi: 10.1097/01.mcd.0000203633.86190.2d. Clin Dysmorphol. 2006. PMID: 16531736

6

Parkin Co-Regulated Gene (PACRG) is regulated by the ubiquitin-proteasomal system and is present in the pathological features of Parkinsonian diseases.

Taylor JM, Song YJ, Huang Y, Farrer MJ, Delatycki MB, Halliday GM, Lockhart PJ. Taylor JM, et al. Among authors: delatycki mb. Neurobiol Dis. 2007 Aug;27(2):238-47. doi: 10.1016/j.nbd.2007.04.014. Epub 2007 May 18. Neurobiol Dis. 2007. PMID: 17590346

7

Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain.

Brody KM, Taylor JM, Wilson GR, Delatycki MB, Lockhart PJ. Brody KM, et al. Among authors: delatycki mb. Brain Res. 2008 Mar 27;1201:177-86. doi: 10.1016/j.brainres.2008.01.050. Epub 2008 Jan 30. Brain Res. 2008. PMID: 18295750

8

Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population.

Taylor JM, Wu RM, Lin CH, Delatycki MB, Lockhart PJ. Taylor JM, et al. Among authors: delatycki mb. Parkinsonism Relat Disord. 2009 Feb;15(2):149-52. doi: 10.1016/j.parkreldis.2008.02.010. Epub 2008 Apr 2. Parkinsonism Relat Disord. 2009. PMID: 18387843

9

Identification and validation of control cell lines for accurate parkin dosage analysis.

Taylor JM, Delatycki MB, Lockhart PJ. Taylor JM, et al. Among authors: delatycki mb. J Neurosci Methods. 2009 Jan 30;176(2):68-71. doi: 10.1016/j.jneumeth.2008.08.029. Epub 2008 Sep 5. J Neurosci Methods. 2009. PMID: 18817813

10

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR. Bruno DL, et al. J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17. J Med Genet. 2009. PMID: 19015223

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