Publications by authors named "Sarah E M Stephenson"

15Publications

Genetic Analysis of in an Early-Onset Parkinson's Disease Cohort.

Front Neurol 2020 26;11:523. Epub 2020 Jun 26.

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

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http://dx.doi.org/10.3389/fneur.2020.00523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332711PMC
June 2020

Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.

Mol Brain 2020 03 30;13(1):52. Epub 2020 Mar 30.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, Victoria, 3052, Australia.

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http://dx.doi.org/10.1186/s13041-020-00584-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106796PMC
March 2020

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

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

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

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

Cytokine receptor signaling through the Jak-Stat-Socs pathway in disease.

Mol Immunol 2007 Apr 17;44(10):2497-506. Epub 2007 Jan 17.

School of Life & Environmental Sciences, Deakin University, 221 Burwood Highway, Burwood, Victoria 3125, Australia.

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http://linkinghub.elsevier.com/retrieve/pii/S016158900600719
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http://dx.doi.org/10.1016/j.molimm.2006.11.025DOI Listing
April 2007

Constitutive activation of zebrafish Stat5 expands hematopoietic cell populations in vivo.

Exp Hematol 2006 Feb;34(2):179-87

Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University, Burwood, Victoria, Australia.

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http://dx.doi.org/10.1016/j.exphem.2005.11.003DOI Listing
February 2006

A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis.

J Biol Chem 2005 Sep 28;280(39):33270-9. Epub 2005 Jul 28.

Centre for Cellular and Molecular Biology, School of Biological and Chemical Sciences, Deakin University, Burwood, Victoria 3125, Australia.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M505889200
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http://dx.doi.org/10.1074/jbc.M505889200DOI Listing
September 2005