Gabrielle R. Wilson

Flemington Road
Parkville, VIC 3052, Australia

Last Updated: 09/26/2026

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Found 11 publications

Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort.

Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort.

Journal: Frontiers in neurology

Published: February 01, 2020

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

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

Journal: Molecular brain

Published: December 03, 2019

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

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

Journal: Parkinsonism & related disorders

Published: January 13, 2019

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

Journal: Human molecular genetics

Published: March 12, 2018

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

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

Journal: Stem cell research

Published: January 24, 2018

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

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

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 05, 2017

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.

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.

Journal: European heart journal

Published: February 22, 2016

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Journal: American journal of human genetics

Published: September 22, 2014

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

Journal: Orphanet journal of rare diseases

Published: December 03, 2013

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

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

Journal: European journal of human genetics : EJHG

Published: April 24, 2013

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.

Journal: European journal of human genetics : EJHG

Published: January 12, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026