List of works - Carolyn Sue

"Dancing feet dyskinesias": a clue to parkin gene mutations

scientific article published on 27 January 2012

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

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

scientific article

A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases.

scientific article published on 27 April 2016

A functional polymorphism in the parkin gene promoter affects the age of onset of Parkinson's disease

scientific article published on 7 January 2007

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

scientific article published in March 2010

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

scientific article published on 18 July 2015

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

scientific article published on 20 December 2012

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

scientific article published in October 2015

ADEM presenting as a movement disorder

scientific article published on 01 October 2010

Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.

scientific article published on July 2016

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

scientific article published on 02 June 2015

Another case of Hashimoto's encephalopathy

scientific article published in May 1997

Antibody-free targeted proteomics assay for absolute measurement of α-tubulin acetylation

scientific article published on 08 July 2020

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

scientific article published in February 1996

Axonal excitability during ischemia in MELAS

scientific article published on 29 March 2013

Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD)

scientific article published on 23 May 2011

Cochlear origin of hearing loss in MELAS syndrome

scientific article published on March 1998

Commentary: Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease

scientific article published on 19 September 2017

Confusion, cortical blindness and fever.

scientific article published on May 1995

Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia.

scientific article published on 12 February 2015

Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein

scientific article

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

scientific article published on 28 September 2016

Depression in Parkinson's disease: Perspectives from an Australian cohort

scientific article published on 11 September 2020

Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019

Disease-specific, neurosphere-derived cells as models for brain disorders

scientific article published on 10 August 2010

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 phenotype of GMPPB mutations.

scientific article published on 12 February 2015

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

scientific article published on 20 July 2018

Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease.

scientific article

Gastrointestinal dysfunction in Parkinson's disease

scientific article published on 27 January 2020

Genetic mimics of cerebral palsy

scientific article published on 26 March 2019

Hashimoto's encephalopathy

scientific article published on 01 January 1997

Hereditary parkinsonism-associated genetic variations in PARK9 locus lead to functional impairment of ATPase type 13A2.

scientific article

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

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia

scientific article published on 01 February 2019

High-resolution HLA-DRB1 genotyping in an Australian inclusion body myositis (s-IBM) cohort: an analysis of disease-associated alleles and diplotypes.

scientific article published on 26 May 2012

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome

scientific article published on 31 July 2002

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing

scientific article published on 01 August 2019

Is Sydenham's chorea an antiphospholipid syndrome?

scientific article published on January 1998

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

scientific journal article

LARS2 variations can cause lethal infantile multisystem failure

scholarly article by Lisa G. Riley published in September 2015

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

Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia

scientific article

MELAS A3243G mitochondrial DNA mutation and age related maculopathy

scientific article published in December 2004

Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia

scientific article published on 27 May 2016

Mitochondrial DNA disease prevalence: still underrecognized?

scientific article published on 01 October 2008

Mitochondrial DNA haplogroups J and K are not protective for Parkinson's disease in the Australian community

article

Mitochondrial DNA haplogroups and age-related hearing loss

scientific article published in September 2007

Mitochondrial DNA haplogroups and age-related maculopathy

scientific article published on 01 September 2007

Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.

scientific article published on 3 April 2018

Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells

scientific article published on 20 August 2020

Mitochondrial diseases

scientific article published on 01 January 2018

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred

scientific article

Motor Evoked Potentials in Hereditary Spastic Paraplegia-A Systematic Review

scientific article published on 18 September 2019

Movement disorders in mitochondrial disease

scientific article published on 6 January 2018

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

scientific article published on 2 January 2015

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

scientific article

Neurophysiological Features Of Hemiballism

scientific article published on 19 May 2016

Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis

scientific article

New insights into the complex role of mitochondria in Parkinson's disease

scientific article published on 13 September 2018

Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease

scientific article published on 10 March 2017

Nutritional Intake and Gut Microbiome Composition Predict Parkinson's Disease

scientific article published on 11 May 2022

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

Parkin western blotting is useful for identification of patients with Parkin-related Parkinson's disease

scientific article published on 09 May 2014

Parkinson's disease and the gastrointestinal microbiome

scientific article published on 30 April 2019

Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

scientific article

Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes

scientific article

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

scientific article

Patient-Derived Stem Cell Models in HSP: Disease Modelling and Drug Discovery

Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques

scientific article published on 21 December 2011

Phenotypic variability of parkin mutations in single kindred

scientific article published on 17 July 2012

Population prevalence of the MELAS A3243G mutation

scientific article published on 8 January 2007

Practical approaches to commencing device-assisted therapies for Parkinson's disease in Australia.

scientific article published on 14 February 2017

Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease

scientific article published in May 2007

Prevalence and neurodegenerative or other associations with olfactory impairment in an older community.

scientific article published in March 2010

Prevalence of mitochondrial 1555A-->G mutation in adults of European descent

scientific article published in February 2009

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

scientific article

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

Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia

scientific article published on 17 August 2021

Systematic review of cardiac electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy.

scientific article published on 13 December 2014

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

scientific article published on 19 February 2018

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

The broadening spectrum of mitochondrial disease: shifts in the diagnostic paradigm

scientific article

The deubiquitinase USP15 antagonizes Parkin-mediated mitochondrial ubiquitination and mitophagy

scientific article

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

scientific article published on 21 April 2020

The genetics of mitochondrial disease.

scientific article

The gut microbiota: A novel therapeutic target in Parkinson's disease?

scientific article published on 12 August 2019

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

scientific article published on 26 June 2012

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms

scientific article published on 21 April 2015

Thioredoxin interacting protein (TXNIP) regulates tubular autophagy and mitophagy in diabetic nephropathy through the mTOR signaling pathway.

scientific article published on 06 July 2016

Transcranial cortical stimulation in disorders of the central motor pathways

scientific article published on 01 January 1997

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings

scientific article published on 23 March 2010

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

scientific article published on 05 October 2015

Variance of gene expression identifies altered network constraints in neurological disease

scientific article

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes

scientific article published on 07 November 2019

mity: A Highly Sensitive Mitochondrial Variant Analysis Pipeline for Whole Genome Sequencing Data

scholarly article

List of works by Carolyn Sue

"Dancing feet dyskinesias": a clue to parkin gene mutations

A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases.

A functional polymorphism in the parkin gene promoter affects the age of onset of Parkinson's disease

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

ADEM presenting as a movement disorder

Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.

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

Another case of Hashimoto's encephalopathy

Antibody-free targeted proteomics assay for absolute measurement of α-tubulin acetylation

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

Axonal excitability during ischemia in MELAS

Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD)

Cochlear origin of hearing loss in MELAS syndrome

Commentary: Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease

Confusion, cortical blindness and fever.

Cortical excitability changes distinguish the motor neuron disease phenotypes from hereditary spastic paraplegia.

Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

Depression in Parkinson's disease: Perspectives from an Australian cohort

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Disease-specific, neurosphere-derived cells as models for brain disorders

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

Expanding the phenotype of GMPPB mutations.

Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms

Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease.

Gastrointestinal dysfunction in Parkinson's disease

Genetic mimics of cerebral palsy

Hashimoto's encephalopathy

Hereditary parkinsonism-associated genetic variations in PARK9 locus lead to functional impairment of ATPase type 13A2.

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

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia

High-resolution HLA-DRB1 genotyping in an Australian inclusion body myositis (s-IBM) cohort: an analysis of disease-associated alleles and diplotypes.

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing

Is Sydenham's chorea an antiphospholipid syndrome?

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

LARS2 variations can cause lethal infantile multisystem failure

LRRK2 mutations impair depolarization-induced mitophagy through inhibition of mitochondrial accumulation of RAB10

Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models.

Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia

MELAS A3243G mitochondrial DNA mutation and age related maculopathy

Mechanism of impaired microtubule-dependent peroxisome trafficking and oxidative stress in SPAST-mutated cells from patients with Hereditary Spastic Paraplegia

Mitochondrial DNA disease prevalence: still underrecognized?

Mitochondrial DNA haplogroups J and K are not protective for Parkinson's disease in the Australian community

Mitochondrial DNA haplogroups and age-related hearing loss

Mitochondrial DNA haplogroups and age-related maculopathy

Mitochondrial Dysfunction in Parkinson's Disease: New Mechanistic Insights and Therapeutic Perspectives.

Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells

Mitochondrial diseases

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred

Motor Evoked Potentials in Hereditary Spastic Paraplegia-A Systematic Review

Movement disorders in mitochondrial disease

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Neurophysiological Features Of Hemiballism

Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis

New insights into the complex role of mitochondria in Parkinson's disease

Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease

Nutritional Intake and Gut Microbiome Composition Predict Parkinson's Disease

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

Parkin western blotting is useful for identification of patients with Parkin-related Parkinson's disease

Parkinson's disease and the gastrointestinal microbiome

Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

Patient-Derived Stem Cell Models in HSP: Disease Modelling and Drug Discovery

Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques

Phenotypic variability of parkin mutations in single kindred

Population prevalence of the MELAS A3243G mutation

Practical approaches to commencing device-assisted therapies for Parkinson's disease in Australia.

Prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson's disease

Prevalence and neurodegenerative or other associations with olfactory impairment in an older community.

Prevalence of mitochondrial 1555A-->G mutation in adults of European descent

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).