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List of works by Nicholas W. Wood

A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy

article

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

scientific article published on 25 February 2004

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

scientific article published in June 2001

A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease

scientific article published in March 2004

A genetically mediated bias in decision making driven by failure of amygdala control

scientific article published on May 2009

A genome-wide association analysis of a broad psychosis phenotype identifies three loci for further investigation

scientific article published on 17 July 2013

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

scientific article

A genome-wide association study in multiple system atrophy

scientific article published on 14 September 2016

A heterozygous effect for PINK1 mutations in Parkinson's disease?

article

A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.

scientific article

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

scientific article

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

scientific article

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

article

A novel prion disease associated with diarrhea and autonomic neuropathy

scientific article

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 7 December 2012

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

scientific article published on 13 November 2013

A pharmacogenetic exploration of vigabatrin-induced visual field constriction

article

A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm ⬇️

scientific article (publication date: 8 January 2002)

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

scientific article

A single-nucleotide polymorphism tagging set for human drug metabolism and transport

scientific article published on 19 December 2004

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

scientific article published on 21 February 2014

Acellular pertussis vaccine at birth and one month induces antibody responses by two months of age

scientific article published on 01 March 2010

Active SMS-based surveillance of adverse events following immunisation with influenza and pertussis-containing vaccines in Australian pregnant women using AusVaxSafety

scientific article published on 01 June 2020

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

scientific article

Adverse events following HPV immunization in Australia: Establishment of a clinical network

scientific article published on 13 June 2016

Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson's Disease

scientific article published on 12 November 2015

Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress

scientific article published on July 2006

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease

scientific article published on January 2007

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family

scientific article published on 01 February 2011

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia

scientific article published on 18 April 2012

Ancestry-specific gene expression in peripheral monocytes mediates risk of neurodegenerative disease

Antibody and cell-mediated immunity to pertussis 4 years after monovalent acellular pertussis vaccine at birth

scientific article published in May 2014

Assessment of Parkinson's disease risk loci in Greece

scientific article published on 27 September 2013

Association between a polymorphism of ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene and sporadic Parkinson's disease

scientific article published on 01 October 2000

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease

scientific article published on 26 December 2007

Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter GeneABCB1

article

Association of slow acetylator genotype for N-acetyltransferase 2 with familial Parkinson's disease

scientific article published in October 1997

Ataxia in a young patient

scientific article published on 01 October 2011

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia

scientific article

Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats

scientific article

Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review

scientific article published on 01 July 2010

Australia needs a vaccine injury compensation scheme: Upcoming COVID-19 vaccines make its introduction urgent

scientific article published on 09 September 2020

Autobiographical memory deficits in schizophrenia.

scientific article published in April 2006

Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India.

scientific article

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

scientific article

Better colonisation of newly emerged Bordetella pertussis in the co-infection mouse model study.

scientific article published on 23 June 2016

Bioenergetic consequences of PINK1 mutations in Parkinson disease

scientific article

Birth outcomes for Australian mother-infant pairs who received an influenza vaccine during pregnancy, 2012-2014: The FluMum study

scientific article published on 9 February 2017

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

scientific article published on 24 July 2013

CASE SERIES: YELLOW FEVER VACCINATION IN EGG-ALLERGIC CHILDREN

scientific article published on 28 February 2020

CHCHD2 and Parkinson's disease.

scientific article published in July 2015

COVID-19 public health measures and respiratory syncytial virus

scientific article published on 18 September 2020

Ca2+ is a key factor in α-synuclein-induced neurotoxicity

scientific article published on 17 March 2016

Cancer and neurodegeneration: between the devil and the deep blue sea.

scientific article

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

scientific article

Cell metabolism affects selective vulnerability in PINK1-associated Parkinson's disease ⬇️

scientific article published on December 15, 2011

Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene

scientific article

Changes in patterns of hospitalized children with varicella and of associated varicella genotypes after introduction of varicella vaccine in Australia.

scientific article

Characterisation and validation of insertions and deletions in 173 patient exomes

scientific article

Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21 ⬇️

scientific article published on October 1, 1997

Chromosome 13 dementia syndromes as models of neurodegeneration ⬇️

scientific article published on December 1, 2001

Clinical and genetic analysis of spinocerebellar ataxia type 11

scientific article published on 01 January 2008

Clinical and genetic characterization of families with triple A (Allgrove) syndrome

scientific article published in December 2002

Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study

scientific article

Clinical epidemiology and predictors of outcome in children hospitalised with influenza A(H1N1)pdm09 in 2009: a prospective national study.

scientific article

Clinical genetics of familial progressive supranuclear palsy.

scientific article published in July 1999

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

scientific article published on 20 August 2008

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

scientific article

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

scientific article

Commentary on "A genome wide linkage disequilibrium screen in Parkinson's disease" by Foltynie et al. in J Neurol (2005) 252:597-602

scientific article published on 07 March 2005

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

scientific journal article

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

scientific article

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

scientific article published on 6 January 2013

Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

scientific article

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

article

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction

scientific article published on 01 November 2004

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease

scientific article published on 12 March 2012

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

scientific article published in May 2017

Cortical alpha-synuclein load is associated with amyloid-beta plaque burden in a subset of Parkinson's disease patients

scientific article published on 08 January 2008

Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike?

scientific article published in May 2002

Coxiella burnetii seroprevalence and Q fever in Australian wildlife rehabilitators

scientific article published on 21 November 2020

Coxiella burnetii seroprevalence in unvaccinated veterinary workers in Australia: Evidence to support Q fever vaccination

scientific article published on 02 November 2019

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

scientific article

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

scientific article published on 04 April 2016

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset

article

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

scientific article published on April 2016

Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72

scientific article published on 01 May 1998

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

scientific article

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

scientific article

Developmental outcomes following vaccine-proximate febrile seizures in children

scientific article published on 01 July 2020

Diagnosing Friedreich's ataxia ⬇️

scientific article published on March 1, 1998

Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy

scientific article published on 9 December 2014

Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation

scientific article published on 23 June 2003

Differential DJ-1 gene expression in Parkinson's disease

scientific article published on 28 August 2009

Direct observation of the interconversion of normal and toxic forms of α-synuclein

scientific article

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

Does a 10-valent pneumococcal-Haemophilus influenzae protein D conjugate vaccine prevent respiratory exacerbations in children with recurrent protracted bacterial bronchitis, chronic suppurative lung disease and bronchiectasis: protocol for a random

scientific article published on 05 September 2013

Dopa-responsive dystonia -- the story so far.

scientific article

Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity

scientific article published on 01 March 1996

Dopa-responsive dystonia: A clinical and molecular genetic study

scientific article published on 01 October 1998

Dopamine induced neurodegeneration in a PINK1 model of Parkinson's disease

scientific article

Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation

scientific article published in January 2005

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts

scientific article

EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.

scientific article

Effects of age and MAOA genotype on the neural processing of social rejection.

scientific article published on 18 May 2010

Effects of intravenous methylprednisolone on outcome in MRI-based prognostic subgroups in acute optic neuritis ⬇️

scientific article published on 01 January 1998

Encephalitis in Australian children: contemporary trends in hospitalisation

scientific article

Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency

scientific article published on 11 October 2010

Equating scores of the University of Pennsylvania Smell Identification Test and Sniffin' Sticks test in patients with Parkinson's disease

scientific article

Establishment of a surveillance system (utilising Midwifes Data Collection Systems) for monitoring the impact of hepatitis B vaccination on the population prevalence of chronic hepatitis B virus infection in Australia.

scientific article

Estimates of chronic hepatitis B virus infection in the Northern Territory.

scientific article

Evaluation of Combination Measles-Mumps-Rubella-Varicella Vaccine Introduction in Australia

scientific article published on 14 August 2017

Evaluation of four candidate genes encoding proteins of the dopamine pathway in familial and sporadic Parkinson's disease: evidence for association of a DRD2 allele

scientific article published in June 1997

Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor-ataxia syndrome

scientific article published in June 2009

Examining the role of common genetic variation in the γ2 subunit of the GABAA receptor in epilepsy using tagging SNPs

scientific article published on 27 June 2006

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

scientific article

Expanding insights of mitochondrial dysfunction in Parkinson's disease.

scientific article

Exploring the Infectious Contribution to Intussusception Causality Using the Effects of COVID-19 Lockdowns in Australia: An Ecological Study

scientific article published in 2024

Extending Antenatal Pertussis Immunization to Second Trimester or At-Birth Pertussis Immunization of Premature Infants?-Reply

scientific article published on 01 March 2019

Extrapyramidal reactions to anti-inflammatory drugs.

scientific article published on May 1988

Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?

scientific article published on 11 May 2005

Familial cerebral amyloid angiopathy related to stroke and dementia

scientific article published on July 1, 2001

Familial dopa-responsive cervical dystonia

scientific article published in February 2006

Febrile seizures following measles and varicella vaccines in young children in Australia.

scientific article published on 7 November 2014

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

scientific article published in January 1998

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus

scientific article

FluMum: a prospective cohort study of mother-infant pairs assessing the effectiveness of maternal influenza vaccination in prevention of influenza in early infancy.

scientific article

Frequency of Adverse Events Following Q Fever Immunisation in Young Adults

scientific article published on 13 December 2018

Friedreich's ataxia and other hereditary ataxias in Greece: an 18-year perspective

scientific article

GJB1 gene mutations in suspected inflammatory demyelinating neuropathies not responding to treatment

scientific article published in June 2009

GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs ⬇️

scientific article published on September 1, 1997

Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion

article

Genes and susceptibility to multiple sclerosis ⬇️

scientific article published on January 1, 1995

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

article

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

scientific article published on 15 February 2010

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

scientific article published on 23 May 2016

Genetic approaches to solving common diseases.

scientific article published in October 2004

Genetic aspects of parkinsonism

scientific article published on April 1, 1997

Genetic association studies of complex neurological diseases

scientific article

Genetic causes of Parkinson's disease: UCHL-1.

scientific article

Genetic complexity and Parkinson's disease ⬇️

scientific article published on July 18, 1997

Genetic linkage analysis of a large family with photoparoxysmal response.

scientific article

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin

scientific article

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic risk factors in parkinson's disease ⬇️

scientific article published on September 1, 1998

Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion

scientific article

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy

scientific article

Genetics of epilepsy: epilepsy research foundation workshop report

scientific article published in June 2007

Genetics of progressive supranuclear palsy

scientific article published on 01 January 2008

Genome scans and candidate gene approaches in the study of common diseases and variable drug responses

article

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

scientific article published in October 2013

Genome-wide association studies: the key to unlocking neurodegeneration?

scientific article published on 01 July 2010

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

scientific article

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic dissection of Australian Bordetella pertussis isolates from the 2008-2012 epidemic.

scientific article published on 27 January 2016

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

scientific article published on 8 August 2017

Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation

scientific article published on July 2013

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

scientific article published on 30 March 2018

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

scientific article published on September 2012

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

scientific article

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

scientific article

Hereditary Geniospasm: Linkage to Chromosome 9q13-q21 and Evidence for Genetic Heterogeneity ⬇️

scientific article published on October 1, 1997

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

scientific article

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

scientific journal article

Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. The European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Gro

scientific article published in October 1998

Huntington's disease progression. PET and clinical observations.

scientific article

Hypersomnia with dilated pupils in adenosine monophosphate deaminase (AMPD) deficiency

scientific article

Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data.

scientific article

Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates

scientific article

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset

article

Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene

scientific article published on 14 June 2004

Immunogenicity and Safety of Monovalent Acellular Pertussis Vaccine at Birth: A Randomized Clinical Trial.

scientific article published in November 2018

Immunogenicity of a reduced dose of A/H3N2 in the 2005 southern hemisphere formulation of inactivated split influenza vaccine

scientific article

Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a).

scientific article

Impact of Fever and Antipyretic Use on Influenza Vaccine Immune Reponses in Children

scientific article published on 19 February 2018

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

scientific article

In vivo assessment of brain monoamine systems in parkin gene carriers: a PET study

scientific article published on 4 January 2010

In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by31P magnetic resonance spectroscopy

scientific article published on 01 October 1997

Influence of COMT genotype and affective distractors on the processing of self-generated thought

scientific article

Influenza vaccine safety in children less than 5 years old: the 2010 and 2011 experience in Australia.

scientific article published on February 2012

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

scientific article published on 20 December 2017

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility

scientific article

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

scientific article

Is the MC1R variant p.R160W associated with Parkinson's?

scientific article published on 21 September 2015

Kinetic model of the aggregation of alpha-synuclein provides insights into prion-like spreading

scientific article published on 16 February 2016

LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study

scientific article

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

scientific article (publication date: September 2014)

Large-scale pathways-based association study in amyotrophic lateral sclerosis

scientific article

Large-scale visualisation of α-synuclein oligomers in Parkinson's disease brain tissue

Lesions of the dorsomedial striatum disrupt prepulse inhibition

scientific article

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

scientific journal article

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

scientific article

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease

scientific article

Management of old world cutaneous leishmaniasis in refugee children

scientific article published in April 2010

Matching health needs of refugee children with services: how big is the gap?

scientific article published in October 2009

Meningococcal vaccines in Australia: a 2019 update

scientific article published on 01 August 2019

Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

scientific article

Mild encephalopathy with reversible splenial lesion: an important differential of encephalitis

scientific article published on 13 February 2015

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

publication published on 01 April 2021

Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease

scientific article published on April 1997

Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption

scientific article

Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response

scientific article published on 21 November 2008

Mitofusin-mediated ER stress triggers neurodegeneration in pink1/parkin models of Parkinson's disease

scientific article

Mitophagy and Parkinson's disease: the PINK1-parkin link.

scientific article published on 21 August 2010

Modern trends in mortality from meningococcal disease in Australia.

scientific article published on December 2009

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

scientific article

Molecular pathogenesis of Parkinson's disease

scientific article

Monitoring vaccine reactions in Australia

scientific article published on 01 February 2006

Motor cortical physiology in patients and asymptomatic carriers of parkin gene mutations

scientific article published in October 2008

Mouse models for neurological disease

scientific article

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

scientific article published in November 2007

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

scientific article published on 05 June 2007

Multiple sclerosis and the HLA-D region: linkage and association studies

scientific article published on 01 May 1995

Multiple sclerosis in the Cambridge health district of east Anglia.

scientific article

Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration ⬇️

scientific article published on December 1, 1997

Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients

scientific article published on 05 July 2012

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

scientific article

Mutations in HPCA cause autosomal-recessive primary isolated dystonia

scientific article

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome.

scientific article published in June 2015

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

scientific article

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

scientific article

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

scientific article published on 01 October 2008

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

scientific article

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

scientific article

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

scientific article published on 15 December 2011

Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

scientific article published in October 1999

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

scientific article

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

scientific article (publication date: October 2002)

NOTCH2NLC Intermediate-length Repeat Expansion and Parkinson's Disease in Patients of European Descent

scientific article published on 30 December 2020

NR4A2 genetic variation in sporadic Parkinson's disease: a genewide approach

scientific article published on 01 November 2006

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

scientific article published on 17 May 2017

Neuronal intranuclear inclusion disease is genetically heterogeneous

scientific article published on 10 August 2020

Neuropathology of primary adult-onset dystonia

scientific article published on 01 February 2008

Nigral degeneration and striatal dopaminergic dysfunction in idiopathic and Parkin-linked Parkinson's disease

scientific article

Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study

scientific article published in November 2009

No linkage between multiple sclerosis and the T cell receptor alpha chain locus

scientific article published on June 1994

No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy.

scientific article published on 31 October 2008

No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia

scientific article

Nonmotor symptoms in Parkin gene-related parkinsonism.

scientific article published in July 2010

Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2

scientific article

Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease

scientific article published in March 2012

OPTIMUM study protocol: an adaptive randomised controlled trial of a mixed whole-cell/acellular pertussis vaccine schedule

scientific article published on 17 December 2020

Olfaction in Parkin single and compound heterozygotes in a cohort of young onset Parkinson's disease patients.

scientific article published on December 2015

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects

scientific article published on 14 February 2001

PARK11 is not linked with Parkinson's disease in European families

article

PARK6-linked parkinsonism occurs in several European families

scientific article published in January 2002

PINK1 cleavage at position A103 by the mitochondrial protease PARL.

scientific article

PINK1 deficiency in β-cells increases basal insulin secretion and improves glucose tolerance in mice

scientific article published on 7 May 2014

PINK1 function in health and disease

scientific article published on June 2009

PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons

scientific article

PINK1 protein in normal human brain and Parkinson's disease

scientific article

PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death

scientific article published on March 2009

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

scientific article

Paediatric Active Enhanced Disease Surveillance (PAEDS) annual report 2016: Prospective hospital-based surveillance for serious paediatric conditions

scientific article published on 01 February 2019

Paediatrician beliefs and practices around influenza vaccination

scientific article

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years

scientific article published on 01 April 2005

Parkin disease: a phenotypic study of a large case series

scientific article published in June 2003

Parkin is recruited into aggresomes in a stress-specific manner: over-expression of parkin reduces aggresome formation but can be dissociated from parkin's effect on neuronal survival

scientific article

Parkin mutations are frequent in patients with isolated early-onset parkinsonism

scientific article published in June 2003

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).

scientific article published in September 2005

Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease

scientific article published on 17 October 2024

Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family

scientific article published in December 1997

Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.

scientific article

Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule-binding repeat domains as demonstrated by new specific monoclonal antibodies

scientific article published on June 2003

Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS—A multicentre case–control study

scientific article published on 27 January 2025

Pertactin negative Bordetella pertussis demonstrates higher fitness under vaccine selection pressure in a mixed infection model.

scientific article published on 30 September 2015

Pertussis in early infancy: disease burden and preventive strategies

scientific article published on June 2009

Pertussis in infants: preventing deaths and hospitalisations in the very young

scientific article published on 01 April 2008

Pertussis: review of epidemiology, diagnosis, management and prevention.

scientific article published on 30 July 2008

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

scientific article (publication date: July 2008)

Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family

scientific article

Phenotypic variation of a new P0 mutation in genetically identical twins

scientific article published on 01 July 1999

Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function.

scientific article

Polygenic risk of Parkinson disease is correlated with disease age at onset

scientific article published on 13 March 2015

Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children

scientific article published on 26 May 2016

Population genetics for target identification

scientific article published on September 2004

Posthospitalization COVID-19 cognitive deficits at 1 year are global and associated with elevated brain injury markers and gray matter volume reduction

scientific article published on 23 September 2024

Postvaccination Febrile Seizure Severity and Outcome

scientific article published on 01 May 2019

Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities.

scientific article

Preliminary investigation of the influence of dopamine regulating genes on social working memory

scientific article

Prevalence and determinants of influenza vaccine coverage at tertiary pediatric hospitals

scientific article published on 21 June 2014

Progressive cognitive decline with truncal/limb ataxia and ballistic movements ⬇️

scientific article published on November 1, 1997

Q Fever Knowledge, Attitudes and Vaccination Status of Australia's Veterinary Workforce in 2014.

scientific article published on 12 January 2016

Rapid increase in pertactin-deficient Bordetella pertussis isolates, Australia.

scientific article published on April 2014

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

scientific article

Rare individual amyloid-β oligomers act on astrocytes to initiate neuronal damage

scientific article published on 09 April 2014

Real-time safety surveillance of seasonal influenza vaccines in children, Australia, 2015.

scientific article published on October 2015

Recurrence risk of a hypotonic hyporesponsive episode in two Australian specialist immunisation clinics

scientific article published on 06 September 2018

Reduction in endogenous parkin levels renders glial cells sensitive to both caspase-dependent and caspase-independent cell death.

scientific article published on October 2004

Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article published on 14 November 2014

SCN1A Variants in vaccine-related febrile seizures: A prospective study

scientific article published on 12 December 2019

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy

scientific article published on 19 July 2016

Safety and effectiveness of stoss therapy in children with vitamin D deficiency

scientific article published on 28 May 2019

Screening for VPS35 mutations in Parkinson's disease

scientific article published on 7 December 2011

Screening of mutations in NOL3 in a myoclonic syndromes series

scientific article published on 20 August 2014

Seizures following vaccination in children: Risks, outcomes and management of subsequent revaccination

scientific article published on 01 October 2020

Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping

scientific article

Sequence analysis of tau in familial and sporadic progressive supranuclear palsy.

scientific article published in March 2002

Seroprevalence of Q fever among metropolitan and non-metropolitan blood donors in New South Wales and Queensland, 2014-2015

scientific article published on 08 March 2019

Sex-dependent rearrangements resulting in CMT1A and HNPP.

scientific article published in October 1997

Signalling properties of inorganic polyphosphate in the mammalian brain ⬇️

scientific article published on January 1, 2013

Single-Molecule Imaging of Individual Amyloid Protein Aggregates in Human Biofluids

scientific article published on 22 January 2016

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

scientific article

Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

scientific article

Spinocerebellar ataxia type 11

scientific article published on January 1, 2012

Statins are underused in recent-onset Parkinson's disease with increased vascular risk: findings from the UK Tracking Parkinson's and Oxford Parkinson's Disease Centre (OPDC) discovery cohorts

scientific article published on 26 September 2016

Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism

scientific article published on 16 April 2004

Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy

scientific article published on 01 October 2001

Structural characterization of toxic oligomers that are kinetically trapped during α-synuclein fibril formation.

scientific article published on 8 April 2015

Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

scientific article published on 23 April 2012

Sub-optimal protection against past hepatitis B virus infection where subtype mismatch exists between vaccine and circulating viral genotype in northern Australia

scientific article

Surveillance of adverse events following immunisation in Australia annual report, 2017

scientific article published on 16 July 2019

Surveillance of adverse events following immunisation in Australia: annual report, 2018

scientific article published on 16 March 2020

Surveillance of adverse events following immunisation: Australia, 2000-2002

scientific article published on January 1, 2003

Susceptibility to multiple sclerosis and the immunoglobulin heavy chain variable region

scientific article published on 01 October 1995

Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition

scientific article

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease

scientific article published on 06 September 2012

Systemic amyloid deposits in familial British dementia.

scientific article

TRACKING PARKINSON'S (THE PROBAND STUDY)–INTERIM REPORT FROM THE FIRST 1000 CASES

scholarly article by Donald Grosset et al published 9 October 2013 in Journal of Neurology, Neurosurgery and Psychiatry

Targeting mitochondrial dysfunction in neurodegenerative disease: Part I.

scientific article published on April 2010

Targeting mitochondrial dysfunction in neurodegenerative disease: Part II.

scientific article published on May 2010

Tau gene and Parkinson's disease: a case-control study and meta-analysis

scientific article

Test for LRRK2 mutations in patients with Parkinson's disease.

scientific article

Th2-polarisation of cellular immune memory to neonatal pertussis vaccination.

scientific article published on 20 January 2010

The ADH1C stop mutation in multiple system atrophy patients and healthy probands in the United Kingdom and Germany

scientific article published on 01 November 2006

The GTP-cyclohydrolase I gene in atypical parkinsonian patients: a clinico-genetic study

scientific article published on September 1996

The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy

scientific article

The Safety of Influenza and Pertussis Vaccination in Pregnancy in a Cohort of Australian Mother-Infant Pairs, 2012-2015: The FluMum Study

scientific article published on 01 January 2019

The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease

scientific article

The clinical, immunological and microbiological impact of the 10-valent pneumococcal-Protein D conjugate vaccine in children with recurrent protracted bacterial bronchitis, chronic suppurative lung disease and bronchiectasis: A multi-centre, double-b

scientific article published on 12 July 2018

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

scientific article

The diversity of<i>SNCA</i>transcripts in neurons, and its impact on antisense oligonucleotide therapeutics

The end of the Australia antigen? An ecological study of the impact of universal newborn hepatitis B vaccination two decades on.

scientific article published in October 2012

The frequency of spinocerebellar ataxia type 23 in a UK population.

scientific article published on 30 October 2012

The genetic and pathological classification of familial frontotemporal dementia

scientific article published in November 2001

The genetics of Parkinson's disease

scientific article published on 01 June 2000

The genetics of dystonia: new twists in an old tale

scientific article published on 17 June 2013

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

scientific article

The human homologue of the weaver mouse gene in familial and sporadic Parkinson's disease

scientific article published on June 1996

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

article

The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1.

scientific article

The parkin gene and its phenotype

article

The pathogenesis of demyelinating disease

scientific article

The phenotypic spectrum of DYT24 due to ANO3 mutations

scientific article

The potential for improved protection against pertussis

scientific article published on 17 July 2020

The prevalence of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) in the UK.

scientific article

The promoter region of the Menkes gene ATP7A is not altered in focal or generalized dystonia

scientific article published in February 2003

The role of interruptions in polyQ in the pathology of SCA1.

scientific article

The role of pathogenic DJ-1 mutations in Parkinson's disease.

scientific article

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates

scientific article published in March 1998

The structure of the tau haplotype in controls and in progressive supranuclear palsy

scientific article

The syndrome of (predominantly cervical) dystonia and cerebellar ataxia: new cases indicate a distinct but heterogeneous entity

scientific article published on 8 December 2006

The tau locus is not significantly associated with pathologically confirmed sporadic Parkinson's disease

scientific article published in September 2002

Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication ⬇️

scientific article published on September 16, 2003

Tracking Parkinson's: Study Design and Baseline Patient Data

scientific article

Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.

scientific article

Transiently increased IgE responses in infants and pre-schoolers receiving only acellular Diphtheria-Pertussis-Tetanus (DTaP) vaccines compared to those initially receiving at least one dose of cellular vaccine (DTwP) - Immunological curiosity or ca

scientific article published on 2 June 2016

Transmission of SARS-CoV-2 in Australian educational settings: a prospective cohort study

scientific article published on 03 August 2020

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes ⬇️

scientific article published on December 1, 1997

Trinucleotide repeats and neurodegenerative disease.

scientific article published on 25 August 2004

Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia

scientific article published on 30 March 2016

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

scientific article published on June 2017

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

scientific article

UCHL-1 gene in multiple system atrophy: a haplotype tagging approach

scientific article published in October 2005

UCHL-1 is not a Parkinson's disease susceptibility gene

scientific article published in April 2006

Understanding pregnant women's attitudes and behavior toward influenza and pertussis vaccination

scientific article published on 22 September 2014

Understanding the molecular causes of Parkinson's disease.

scientific article

Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature

scientific article

Update on the COVID-19-associated inflammatory syndrome in children and adolescents; paediatric inflammatory multisystem syndrome-temporally associated with SARS-CoV-2

scientific article published on 31 July 2020

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities

scientific article published on 3 August 2012

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

scientific article published on 13 August 2012

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease

scientific article published on 14 February 2013

Utility of early influenza diagnosis through point-of-care testing in children presenting to an emergency department

scientific article published on April 2016

Vaccination for the paediatrician

scientific article published in November 2006

Vaccine discussions with parents: The experience of Australian paediatricians

scientific article published on 31 May 2017

Vaccine preventable diseases and vaccination coverage in Australia 2001 to 2002

scientific article published on 01 December 2004

Vaccine preventable diseases and vaccination coverage in Australia, 2003 to 2005

scientific article published on 01 June 2007

Vaccine preventable diseases in Australia, 2005 to 2007

scientific article published on December 1, 2010

Vascular disease and vascular risk factors in relation to motor features and cognition in early Parkinson's disease

scientific article published on 21 June 2016

Vitamin D and Tuberculosis Status in Refugee Children ⬇️

scientific article published on May 1, 2012

Vitamin D deficiency in refugee children from conflict zones

scientific article

What have PINK1 and HtrA2 genes told us about the role of mitochondria in Parkinson's disease?

scientific article

When the penny drops.

scientific article

Willingness of veterinarians in Australia to recommend Q fever vaccination in veterinary personnel: Implications for workplace health and safety compliance.

scientific article

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

scientific article published in December 2012

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