Lockhart PJ - Search Results

1

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

Barbier M, Bahlo M, Pennisi A, Jacoupy M, Tankard RM, Ewenczyk C, Davies KC, Lino-Coulon P, Colace C, Rafehi H, Auger N, Ansell BRE, van der Stelt I, Howell KB, Coutelier M, Amor DJ, Mundwiller E, Guillot-Noël L, Storey E, Gardner RJM, Wallis MJ, Brusco A, Corti O, Rötig A, Leventer RJ, Brice A, Delatycki MB, Stevanin G, Lockhart PJ, Durr A. Barbier M, et al. Among authors: lockhart pj. Ann Neurol. 2022 Jul;92(1):122-137. doi: 10.1002/ana.26366. Epub 2022 May 7. Ann Neurol. 2022. PMID: 35411967 Free article.

2

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: lockhart pj. 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.

3

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: lockhart pj. 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

4

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: lockhart pj. 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

5

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: lockhart pj. 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

6

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

Taylor JM, Delatycki MB, Lockhart PJ. Taylor JM, et al. Among authors: lockhart pj. 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

7

Analysis of PArkin Co-Regulated Gene in a Taiwanese-ethnic Chinese cohort with early-onset Parkinson's disease.

Taylor JM, Wu RM, Farrer MJ, Delatycki MB, Lockhart PJ. Taylor JM, et al. Among authors: lockhart pj. Parkinsonism Relat Disord. 2009 Jul;15(6):417-21. doi: 10.1016/j.parkreldis.2008.11.009. Epub 2009 Feb 3. Parkinsonism Relat Disord. 2009. PMID: 19196541

8

Molecular analysis of the PArkin co-regulated gene and association with male infertility.

Wilson GR, Sim ML, Brody KM, Taylor JM, McLachlan RI, O'Bryan MK, Delatycki MB, Lockhart PJ. Wilson GR, et al. Among authors: lockhart pj. Fertil Steril. 2010 May 1;93(7):2262-8. doi: 10.1016/j.fertnstert.2009.01.079. Epub 2009 Mar 6. Fertil Steril. 2010. PMID: 19268936 Free article.

9

Expression and localization of the Parkin co-regulated gene in mouse CNS suggests a role in ependymal cilia function.

Wilson GR, Tan JT, Brody KM, Taylor JM, Delatycki MB, Lockhart PJ. Wilson GR, et al. Among authors: lockhart pj. Neurosci Lett. 2009 Aug 21;460(1):97-101. doi: 10.1016/j.neulet.2009.05.043. Epub 2009 May 20. Neurosci Lett. 2009. PMID: 19463890

10

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.

Wilson GR, Wang HX, Egan GF, Robinson PJ, Delatycki MB, O'Bryan MK, Lockhart PJ. Wilson GR, et al. Among authors: lockhart pj. Hum Mol Genet. 2010 Apr 15;19(8):1593-602. doi: 10.1093/hmg/ddq031. Epub 2010 Jan 27. Hum Mol Genet. 2010. PMID: 20106870

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