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List of works by Carolyn Sue

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The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

scientific article published on 26 June 2012
Parkinson's disease and the gastrointestinal microbiome

scientific article published on 30 April 2019
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

scientific article published on 28 September 2016
Phenotypic variability of parkin mutations in single kindred

scientific article published on 17 July 2012
LRRK2 mutations impair depolarization-induced mitophagy through inhibition of mitochondrial accumulation of RAB10

scientific article published on 19 April 2019
Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models.

scientific article
Apomorphine can increase cutaneous inhibition of motor activity in Parkinson's disease

scientific article published in February 1996
Is Sydenham's chorea an antiphospholipid syndrome?

scientific article published on January 1998
Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques

scientific article published on 21 December 2011
A functional polymorphism in the parkin gene promoter affects the age of onset of Parkinson's disease

scientific article published on 7 January 2007
Genetic mimics of cerebral palsy

scientific article published on 26 March 2019
Commentary: Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease

scientific article published on 19 September 2017
Movement disorders in mitochondrial disease

scientific article published on 6 January 2018
Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019
Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD)

scientific article published on 23 May 2011
Hereditary parkinsonism-associated genetic variations in PARK9 locus lead to functional impairment of ATPase type 13A2.

scientific article
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

scientific article published on 21 November 2017
Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

scientific article published on 20 July 2018
Another case of Hashimoto's encephalopathy

scientific article published in May 1997
Practical approaches to commencing device-assisted therapies for Parkinson's disease in Australia.

scientific article published on 14 February 2017
The gut microbiota: A novel therapeutic target in Parkinson's disease?

scientific article published on 12 August 2019
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review

scientific article published on 07 May 2019
Transcranial cortical stimulation in disorders of the central motor pathways

scientific article published on 01 January 1997
A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

scientific article published in October 2015
Mitochondrial DNA haplogroups J and K are not protective for Parkinson's disease in the Australian community

article
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes

scientific article published on 07 November 2019
Patient-Derived Stem Cell Models in HSP: Disease Modelling and Drug Discovery

An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models

scientific article published on 02 June 2015
The polymerase chain reaction in the study of mitochondrial genetics

scientific article published on December 17, 1997
A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease

scientific article published in March 2010
Oxidative Stress-Induced Axon Fragmentation Is a Consequence of Reduced Axonal Transport in Hereditary Spastic Paraplegia SPAST Patient Neurons

scientific article published on 07 May 2020
Mitochondrial diseases

scientific article published on 01 January 2018
The impact of device-assisted therapies on the gut microbiome in Parkinson’s disease

scientific article published on 15 June 2021
Hashimoto's encephalopathy

scientific article published on 01 January 1997
LARS2 variations can cause lethal infantile multisystem failure

scholarly article by Lisa G. Riley published in September 2015
Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

scientific article published on 3 January 2023
Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells

scientific article published on 20 August 2020
The Gut Microbiome in Parkinson's Disease: A Longitudinal Study of the Impacts on Disease Progression and the Use of Device-Assisted Therapies

scientific article published on 17 May 2022
Gastrointestinal dysfunction in Parkinson's disease

scientific article published on 27 January 2020
Dopamine and cortical iPSC-derived neurons with different Parkinsonian mutations show variation in lysosomal and mitochondrial dysfunction: implications for protein deposition versus selective cell loss

ADEM presenting as a movement disorder

scientific article published on 01 October 2010
Transgenic A53T mice have astrocytic α-synuclein aggregates in dopamine and striatal regions

Hereditary sensory and autonomic neuropathy type IC accompanied by upper motor neuron abnormalities and type II juxtafoveal retinal telangiectasias

scientific article published on 04 April 2019
NEMoE: A nutrition aware regularized mixture of experts model addressing diet-cohort heterogeneity of gut microbiota in Parkinson’s disease

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants

scientific article published on 8 April 2022
Motor Evoked Potentials in Hereditary Spastic Paraplegia-A Systematic Review

scientific article published on 18 September 2019
Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia

scientific article published on 17 August 2021
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing

scientific article published on 01 August 2019
Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia

scientific article published on 17 December 2020
mity: A Highly Sensitive Mitochondrial Variant Analysis Pipeline for Whole Genome Sequencing Data

scholarly article

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