Paul J Lockhart

Paul J Lockhart

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Paul J Lockhart

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia.

Anesthesiology 2019 11;131(5):974-982

From Department of Anaesthesiology, Waikato Clinical Campus, University of Auckland, Hamilton, New Zealand (J.W.S.) Department of Anaesthesia and Pain Management, Royal Melbourne Hospital, Melbourne, Australia (K.L.) Centre for Integrated Critical Care (K.L.) Department of Pharmacology and Therapeutics (K.L.) Department of Paediatrics (A.J.D., D.J.A., P.J.L.) Department of Medical Biology (M.B.), The University of Melbourne, Melbourne, Australia Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Australia (K.L.) Department of Anaesthesia, Royal Children's Hospital, Melbourne, Australia (A.J.D.) Murdoch Children's Research Institute, Melbourne, Australia (A.J.D., D.J.A.) Royal Children's Hospital, Melbourne, Australia (D.J.A.) Population Health and Immunity Division (P.D., M.B.) Bioinformatics Division (V.L.), The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Australia (P.J.L.).

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http://dx.doi.org/10.1097/ALN.0000000000002877DOI Listing
November 2019

Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.

Eur J Med Genet 2019 Oct 1:103774. Epub 2019 Oct 1.

Murdoch Children's Research Institute, Parkville, Victoria, Australia; Royal Children's Hospital Melbourne, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2019.103774DOI Listing
October 2019

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder.

Stem Cell Res 2019 08 1;39:101516. Epub 2019 Aug 1.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101516DOI Listing
August 2019

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.

Parkinsonism Relat Disord 2019 Jul 22;64:308-311. Epub 2019 Mar 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria, 3052, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.03.013DOI Listing
July 2019

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

Eur J Hum Genet 2019 01 8;27(1):161-166. Epub 2018 Aug 8.

Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1038/s41431-018-0231-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303251PMC
January 2019

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults.

Stem Cell Res 2019 01 27;34:101380. Epub 2018 Dec 27.

Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Victoria 3052, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria 3052, Australia; Department of Anatomy and Developmental Biology, Monash University, Clayton, Victoria 3800, Australia.

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http://dx.doi.org/10.1016/j.scr.2018.101380DOI Listing
January 2019

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.

Am J Hum Genet 2018 12 29;103(6):858-873. Epub 2018 Nov 29.

Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia; Department of Medical Biology, The University of Melbourne, Melbourne 3010, VIC, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288141PMC
December 2018

Teaching NeuroImages: Imaging features of -mediated mirror movements and isolated agenesis of the corpus callosum.

Neurology 2018 08;91(9):e886-e887

From the Queensland Brain Institute (T.J.E., L.J.R.), Faculty of Medicine (T.J.E.), and School of Biomedical Sciences (L.J.R.), The University of Queensland, Brisbane; Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., P.J.L.) and Neuroscience Research Group (R.J.L.), Murdoch Children's Research Institute, and Department of Neurology (R.J.L.), Royal Children's Hospital; and Department of Paediatrics (A.P.L.M., P.J.L., R.J.L.) University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000006085DOI Listing
August 2018

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons.

Neurobiol Dis 2018 06 24;114:184-193. Epub 2018 Feb 24.

Shriners Hospitals Pediatric Research Center, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, United States; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413529PMC
June 2018

Somatic mutation in the of Sturge-Weber syndrome.

Neurol Genet 2018 Jun 1;4(3):e236. Epub 2018 May 1.

Department of Medicine (Austin Hospital) (M.S.H., J.A.D., Z.Y., L.M., I.E.S., S.F.B.), University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Childrens Research Institute (M.S.H., A.S.H., G.G., K.P., P.J.L., R.J.L.), Parkville, Victoria, Australia; Department of Paediatrics (Royal Children's Hospital) (A.S.H., G.G., K.P., P.J.L., R.J.L., I.E.S.), Department of Pathology (H.D., R.K., A.D), and Department of Medicine (Royal Melbourne Hospital) (E.O., N.C.J.), University of Melbourne, Parkville, Victoria, Australia; Department of Neurology (A.S.H., R.J.L., I.E.S.) and Department of Neurosurgery (W.M.), Royal Children's Hospital, Parkville, Victoria, Australia; Department of Neurosciences (S.M., B.N.) and Neurosurgical Department (M.W.), Lady Cilento Children's Hospital, Brisbane, Queensland, Australia; Translational Genomics and Epigenomics Laboratory (H.D., A.D.), Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia; School of Cancer Medicine (H.D., A.D.), La Trobe University, Bundoora, Victoria, Australia; Anatomical Pathology (R.K.), Austin Health, Heidelberg, Victoria, Australia; Department of Neuroscience (N.C.J.), Central Clinical School, Monash University, Victoria, Australia; and Department of Neurology (N.C.J.), The Alfred Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931068PMC
June 2018

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.

F1000Res 2018 13;7. Epub 2018 Jun 13.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.12688/f1000research.13980.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008857PMC
June 2018

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line.

Sci Rep 2018 05 14;8(1):7528. Epub 2018 May 14.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1038/s41598-018-25766-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951884PMC
May 2018

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.

Stem Cell Res 2018 04 21;28:161-164. Epub 2018 Feb 21.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2018.02.015DOI Listing
April 2018

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.

Mov Disord 2018 02 9;33(2):196-207. Epub 2018 Jan 9.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/mds.27270DOI Listing
February 2018

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans.

Cell Rep 2018 01;22(5):1105-1114

Neural Circuit Development Laboratory, Institut de Recherches Cliniques de Montréal (IRCM), Montreal, QC, Canada; Integrated Program in Neuroscience, McGill University, Montreal, QC, Canada; Department of Anatomy and Cell Biology, Division of Experimental Medicine, McGill University, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.01.004DOI Listing
January 2018

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of .

Ann Clin Transl Neurol 2017 12 7;4(12):859-864. Epub 2017 Nov 7.

Bruce Lefroy Centre for Genetic Health Research Murdoch Childrens Research Institute Parkville Victoria 3052 Australia.

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http://dx.doi.org/10.1002/acn3.487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740235PMC
December 2017

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Am J Med Genet A 2017 03 7;173(3):820-823. Epub 2017 Feb 7.

Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38076DOI Listing
March 2017

Heterozygous mutations in cause juvenile peroxisomal D-bifunctional protein deficiency.

Neurol Genet 2016 Dec 18;2(6):e114. Epub 2016 Oct 18.

Murdoch Childrens Research Institute (D.J.A., A.P.L.M., G.G., M.B.D., K.P., R.J.L., P.J.L.), Royal Children's Hospital (D.J.A., M.B.D., R.J.L.), Parkville; Department of Paediatrics (D.J.A., A.P.L.M., M.B.D., C.B., R.J.L., P.J.L.), Department of Medical Biology (R.T., M.B.), The University of Melbourne; Department of Medicine (Neuroscience) (E.S.), Central Clinical School, Monash University; and Population Health and Immunity Division (R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070413PMC
December 2016

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair.

Mol Cell 2016 11 27;64(4):704-719. Epub 2016 Oct 27.

Cancer Research UK and Medical Research Council Oxford Institute for Radiation Oncology, Department of Oncology, University of Oxford, Oxford OX3 7DQ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.molcel.2016.09.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5128727PMC
November 2016

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

Eur Heart J 2016 Sep 22;37(33):2586-90. Epub 2016 Apr 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville 3052, Victoria, Australia Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville 3052, Victoria, Australia

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http://dx.doi.org/10.1093/eurheartj/ehw160DOI Listing
September 2016

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Neurol Genet 2015 Aug 16;1(2):e16. Epub 2015 Jul 16.

Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., E.M.Y., J.C.H.S., M.B.D., P.J.L.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; Bioinformatics Division (V.L., C.B., R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; Department of Neurology (M.M.R., E.M.Y., R.J.L.) and Department of Paediatrics (A.P.L.M., M.M.R., E.M.Y., M.B.D., D.J.A., R.J.L., P.J.L.), The University of Melbourne, Royal Children's Hospital, Parkville, Australia; Victorian Clinical Genetics Services (D.J.A., G.M.) and Neuroscience Research (M.M.R., R.J.L.), Murdoch Childrens Research Institute, Parkville, Australia; Department of Neurology (E.H.S.), UCSF Benioff Children's Hospital, San Francisco, CA; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (R.T., M.B.), The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911PMC
August 2015

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

Neurology 2015 May 15;84(20):2029-32. Epub 2015 Apr 15.

From the Departments of Neurology (R.J.L., A.S.H.), Neurosurgery (W.M.), and Anatomical Pathology (D.M.), The Royal Children's Hospital, Melbourne; Department of Pediatrics (R.J.L., A.S.H., M.B.D., D.J.A., P.J.L.), The University of Melbourne; Bioinformatics Division (T.S., M.B.), The Walter and Eliza Hall Institute of Medical Research, Melbourne; Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., G.G., M.B.D., D.J.A., P.J.L.), Murdoch Childrens Research Institute (R.J.L., A.S.H.), Melbourne; Clinical Genetics (M.B.D.), Austin Health, Melbourne, Australia; and Shriners Hospital Pediatric Research Center (P.C.), Temple University, Philadelphia, PA.

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http://www.neurology.org/content/84/20/2029.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000159
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442098PMC
May 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Ann Clin Transl Neurol 2015 May 12;2(5):575-80. Epub 2015 Mar 12.

Department of Pediatrics, University of Melbourne Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia.

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http://dx.doi.org/10.1002/acn3.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435711PMC
May 2015

ARID1B-mediated disorders: Mutations and possible mechanisms.

Intractable Rare Dis Res 2015 Feb;4(1):17-23

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; ; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.5582/irdr.2014.01021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322591PMC
February 2015

Cell and gene therapy for Friedreich ataxia: progress to date.

Hum Gene Ther 2014 Aug 19;25(8):684-93. Epub 2014 Jun 19.

1 Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute , Parkville Victoria 3052, Australia .

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http://dx.doi.org/10.1089/hum.2013.180DOI Listing
August 2014

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.

Int J Stroke 2014 Aug;9(6):E26-7

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Vic., Australia; Department of Medical Biology, The University of Melbourne, Parkville, Vic., Australia.

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http://dx.doi.org/10.1111/ijs.12306DOI Listing
August 2014

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Eur J Hum Genet 2014 Jun 9;22(6):741-7. Epub 2013 Oct 9.

1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/ejhg.2013.229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023207PMC
June 2014

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.

Mov Disord 2014 Jun 3;29(7):940-3. Epub 2014 Jan 3.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia; Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia; School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia.

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http://dx.doi.org/10.1002/mds.25795DOI Listing
June 2014

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.

Discov Med 2014 Jan;17(91):25-35

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia and Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia.

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January 2014

Parkin co-regulated gene is involved in aggresome formation and autophagy in response to proteasomal impairment.

Exp Cell Res 2012 Oct 28;318(16):2059-70. Epub 2012 May 28.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Victoria, Australia.

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http://dx.doi.org/10.1016/j.yexcr.2012.05.011DOI Listing
October 2012

The COMT Val158 allele is associated with impaired delayed-match-to-sample performance in ADHD.

Behav Brain Funct 2012 May 28;8:25. Epub 2012 May 28.

The University of Queensland, Queensland Brain Institute and School of Psychology, St Lucia, 4072, Brisbane, Australia.

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http://dx.doi.org/10.1186/1744-9081-8-25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413539PMC
May 2012

Long range regulation of human FXN gene expression.

PLoS One 2011 8;6(7):e22001. Epub 2011 Jul 8.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0022001PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132285PMC
October 2011

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Genome Biol 2011 Sep 14;12(9):R85. Epub 2011 Sep 14.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1186/gb-2011-12-9-r85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3308048PMC
September 2011

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

Fertil Steril 2010 May 6;93(7):2262-8. Epub 2009 Mar 6.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, 3052, Victoria, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00150282090013
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http://dx.doi.org/10.1016/j.fertnstert.2009.01.079DOI Listing
May 2010

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

Hum Mol Genet 2010 Apr 27;19(8):1593-602. Epub 2010 Jan 27.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville 3052, Australia.

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http://dx.doi.org/10.1093/hmg/ddq031DOI Listing
April 2010

Degeneration in different parkinsonian syndromes relates to astrocyte type and astrocyte protein expression.

J Neuropathol Exp Neurol 2009 Oct;68(10):1073-83

Prince of Wales Medical Research Institute and the University of New South Wales, Barker Street, Randwick, Sydney, Australia.

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http://dx.doi.org/10.1097/NEN.0b013e3181b66f1bDOI Listing
October 2009

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

Neurosci Lett 2009 Aug 20;460(1):97-101. Epub 2009 May 20.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1016/j.neulet.2009.05.043DOI Listing
August 2009

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

Parkinsonism Relat Disord 2009 Jul 3;15(6):417-21. Epub 2009 Feb 3.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Victoria, Australia.

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http://dx.doi.org/10.1016/j.parkreldis.2008.11.009DOI Listing
July 2009

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

Parkinsonism Relat Disord 2009 Feb 2;15(2):149-52. Epub 2008 Apr 2.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.parkreldis.2008.02.010DOI Listing
February 2009

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

J Neurosci Methods 2009 Jan 5;176(2):68-71. Epub 2008 Sep 5.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1016/j.jneumeth.2008.08.029DOI Listing
January 2009

Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism.

Mov Disord 2009 Jan;24(1):104-8

Department of Medical Genetics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.

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http://dx.doi.org/10.1002/mds.22093DOI Listing
January 2009

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

Brain Res 2008 Mar 30;1201:177-86. Epub 2008 Jan 30.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, 3052, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S000689930800141
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http://dx.doi.org/10.1016/j.brainres.2008.01.050DOI Listing
March 2008

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

Neurobiol Dis 2007 Aug 18;27(2):238-47. Epub 2007 May 18.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.

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http://dx.doi.org/10.1016/j.nbd.2007.04.014DOI Listing
August 2007

Oligomeric alpha-synuclein inhibits tubulin polymerization.

Biochem Biophys Res Commun 2007 May 12;356(3):548-53. Epub 2007 Mar 12.

Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1016/j.bbrc.2007.02.163DOI Listing
May 2007

Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism.

Mov Disord 2004 Sep;19(9):1065-9

Department of Neuroscience, Birdsall Building, Mayo Clinic Jacksonville, Florida 32224, USA.

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http://doi.wiley.com/10.1002/mds.20082
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http://dx.doi.org/10.1002/mds.20082DOI Listing
September 2004

Biochemical characterization of torsinB.

Brain Res Mol Brain Res 2004 Aug;127(1-2):1-9

Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0169328X040019
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http://dx.doi.org/10.1016/j.molbrainres.2004.05.005DOI Listing
August 2004

Parkin genetics: one model for Parkinson's disease.

Hum Mol Genet 2004 Apr 19;13 Spec No 1:R127-33. Epub 2004 Feb 19.

Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA.

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http://dx.doi.org/10.1093/hmg/ddh089DOI Listing
April 2004

It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).

Mov Disord 2004 Jan;19(1):101-4

Mayo Clinic Jacksonville, Jacksonville, Florida 32224, USA.

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http://dx.doi.org/10.1002/mds.20000DOI Listing
January 2004

RING finger 1 mutations in Parkin produce altered localization of the protein.

Hum Mol Genet 2003 Nov 30;12(22):2957-65. Epub 2003 Sep 30.

Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/ddg328DOI Listing
November 2003

Identification of a novel gene linked to parkin via a bi-directional promoter.

J Mol Biol 2003 Feb;326(1):11-9

Program for Molecular Neuroscience, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.1016/s0022-2836(02)01376-1DOI Listing
February 2003

Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase.

Biochim Biophys Acta 2002 Nov;1588(2):189-94

Center for Cellular and Molecular Biology, School of Biological and Chemical Sciences, Deakin University, Building L, Burwood Campus, 221 Burwood Highway, Victoria 3125, Australia.

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http://dx.doi.org/10.1016/s0925-4439(02)00164-3DOI Listing
November 2002

Functional association of the parkin gene promoter with idiopathic Parkinson's disease.

Hum Mol Genet 2002 Oct;11(22):2787-92

Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.1093/hmg/11.22.2787DOI Listing
October 2002

The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3.

Gene 2002 Feb;285(1-2):229-37

Mayo Clinic Jacksonville, Birdsall Building, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.1016/s0378-1119(02)00402-xDOI Listing
February 2002