Filtros de búsqueda

Lista de obras de 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

artículo científico publicado en 2004

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

artículo científico publicado en 2001

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

A genome-wide association study in multiple system atrophy

artículo científico publicado en 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.

artículo científico publicado en 2001

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

artículo científico publicado en 2015

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

artículo científico publicado en 2000

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

artículo científico publicado en 1999

A novel prion disease associated with diarrhea and autonomic neuropathy

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

A pharmacogenetic exploration of vigabatrin-induced visual field constriction

article

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

artículo científico publicado el 8 de enero de 2002

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 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.

artículo científico publicado en 2014

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 1997

Ataxia in a young patient

scientific article published on 01 October 2011

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

Autobiographical memory deficits in schizophrenia.

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Bioenergetic consequences of PINK1 mutations in Parkinson disease

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

CASE SERIES: YELLOW FEVER VACCINATION IN EGG-ALLERGIC CHILDREN

artículo científico publicado en 2020

CHCHD2 and Parkinson's disease.

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado el 15 de diciembre de 2011

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

artículo científico publicado en 2001

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

artículo científico publicado en 2013

Characterisation and validation of insertions and deletions in 173 patient exomes

artículo científico publicado en 2012

Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21 ⬇️

artículo científico publicado el 1 de octubre de 1997

Chromosome 13 dementia syndromes as models of neurodegeneration ⬇️

artículo científico publicado el 1 de diciembre de 2001

Clinical and genetic analysis of spinocerebellar ataxia type 11

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico publicado en 2002

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

artículo científico publicado en 2014

Clinical genetics of familial progressive supranuclear palsy.

artículo científico publicado en 1999

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

artículo científico publicado en 2008

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

artículo científico publicado en 1997

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico

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

artículo científico

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

article

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 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?

artículo científico publicado en 2002

Coxiella burnetii seroprevalence and Q fever in Australian wildlife rehabilitators

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 1998

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2016

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.

artículo científico publicado en 2011

Developmental outcomes following vaccine-proximate febrile seizures in children

artículo científico publicado en 2020

Diagnosing Friedreich's ataxia ⬇️

artículo científico publicado el 1 de marzo de 1998

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

Differential DJ-1 gene expression in Parkinson's disease

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Dopa-responsive dystonia -- the story so far.

artículo científico publicado en 2002

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

artículo científico publicado en 1996

Dopa-responsive dystonia: A clinical and molecular genetic study

artículo científico publicado en 1998

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2001

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

artículo científico publicado en 2001

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

artículo científico publicado en 2010

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

artículo científico publicado el 1 de enero de 1998

Encephalitis in Australian children: contemporary trends in hospitalisation

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 1997

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Expanding insights of mitochondrial dysfunction in Parkinson's disease.

artículo científico publicado en 2006

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

artículo científico publicado en 2024

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

artículo científico publicado en 2019

Extrapyramidal reactions to anti-inflammatory drugs.

artículo científico publicado en 1988

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

artículo científico publicado en 2005

Familial cerebral amyloid angiopathy related to stroke and dementia

artículo científico publicado el 1 de julio de 2001

Familial dopa-responsive cervical dystonia

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 1998

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado el 1 de septiembre de 1997

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

article

Genes and susceptibility to multiple sclerosis ⬇️

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 2016

Genetic approaches to solving common diseases.

artículo científico publicado en 2004

Genetic aspects of parkinsonism

artículo científico publicado el 1 de abril de 1997

Genetic association studies of complex neurological diseases

artículo científico publicado en 2006

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

artículo científico publicado en 2004

Genetic complexity and Parkinson's disease ⬇️

artículo científico publicado el 18 de julio de 1997

Genetic linkage analysis of a large family with photoparoxysmal response.

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Genetic risk factors in parkinson's disease ⬇️

artículo científico publicado el 1 de septiembre de 1998

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Genetics of epilepsy: epilepsy research foundation workshop report

artículo científico publicado en 2007

Genetics of progressive supranuclear palsy

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

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

artículo científico publicado en 2016

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

artículo científico publicado en 2012

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

artículo científico publicado en 2012

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

artículo científico publicado en 2009

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

artículo científico publicado el 1 de octubre de 1997

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

artículo científico publicado en 2004

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

artículo científico publicado en 1998

Huntington's disease progression. PET and clinical observations.

artículo científico publicado en 1999

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 1997

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

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 1997

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

Lesions of the dorsomedial striatum disrupt prepulse inhibition

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 1999

Management of old world cutaneous leishmaniasis in refugee children

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 1997

Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2009

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

artículo científico publicado en 1999

Molecular pathogenesis of Parkinson's disease

artículo científico publicado en 2005

Monitoring vaccine reactions in Australia

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Mouse models for neurological disease

artículo científico publicado en 2002

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

artículo científico publicado en 2007

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

artículo científico publicado en 2007

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

artículo científico publicado en 1995

Multiple sclerosis in the Cambridge health district of east Anglia.

artículo científico publicado en 1992

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

artículo científico publicado el 1 de diciembre de 1997

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Mutations in HPCA cause autosomal-recessive primary isolated dystonia

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado en 1999

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

artículo científico publicado en 2016

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2017

Neuronal intranuclear inclusion disease is genetically heterogeneous

scientific article published on 10 August 2020

Neuropathology of primary adult-onset dystonia

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 1994

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Nonmotor symptoms in Parkin gene-related parkinsonism.

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2001

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

article

PARK6-linked parkinsonism occurs in several European families

artículo científico publicado en 2002

PINK1 cleavage at position A103 by the mitochondrial protease PARL.

artículo científico publicado en 2010

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

artículo científico publicado en 2014

PINK1 function in health and disease

artículo científico publicado en 2009

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

artículo científico publicado en 2008

PINK1 protein in normal human brain and Parkinson's disease

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2024

Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family

artículo científico publicado en 1997

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

artículo científico publicado en 2002

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

artículo científico publicado en 2003

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

artículo científico publicado en 2025

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

artículo científico publicado en 2015

Pertussis in early infancy: disease burden and preventive strategies

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

Phenotypic variation of a new P0 mutation in genetically identical twins

artículo científico publicado en 1999

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Population genetics for target identification

artículo científico

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

artículo científico publicado en 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.

artículo científico publicado en 1999

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

artículo científico publicado en 2014

Prevalence and determinants of influenza vaccine coverage at tertiary pediatric hospitals

artículo científico publicado en 2014

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

artículo científico publicado el 1 de noviembre de 1997

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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.

artículo científico publicado en 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.

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Screening for VPS35 mutations in Parkinson's disease

artículo científico publicado en 2011

Screening of mutations in NOL3 in a myoclonic syndromes series

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2003

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

artículo científico publicado en 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.

artículo científico publicado en 1997

Signalling properties of inorganic polyphosphate in the mammalian brain ⬇️

artículo científico publicado el 1 de enero de 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

Spinocerebellar ataxia type 11

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 2005

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

artículo científico

Systemic amyloid deposits in familial British dementia.

artículo científico publicado en 2001

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.

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 1996

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

artículo científico publicado en 2013

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

artículo científico publicado en 1998

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

The genetic and pathological classification of familial frontotemporal dementia

artículo científico publicado en 2001

The genetics of Parkinson's disease

artículo científico publicado en 2000

The genetics of dystonia: new twists in an old tale

artículo científico

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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2007

The parkin gene and its phenotype

article

The pathogenesis of demyelinating disease

artículo científico publicado en 1994

The phenotypic spectrum of DYT24 due to ANO3 mutations

artículo científico publicado en 2014

The potential for improved protection against pertussis

artículo científico publicado en 2020

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

artículo científico publicado en 2001

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

artículo científico publicado en 2003

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

artículo científico publicado en 2013

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

artículo científico publicado en 2003

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

artículo científico publicado en 1998

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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 16 de septiembre de 2003

Tracking Parkinson's: Study Design and Baseline Patient Data

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de diciembre de 1997

Trinucleotide repeats and neurodegenerative disease.

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Understanding the molecular causes of Parkinson's disease.

artículo científico publicado en 2006

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Vaccination for the paediatrician

artículo científico publicado en 2006

Vaccine discussions with parents: The experience of Australian paediatricians

artículo científico publicado en 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

artículo científico publicado el 1 de diciembre de 2010

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

artículo científico publicado en 2016

Vitamin D and Tuberculosis Status in Refugee Children ⬇️

artículo científico publicado el 1 de mayo de 2012

Vitamin D deficiency in refugee children from conflict zones

artículo científico publicado en 2011

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

artículo científico publicado en 2008

When the penny drops.

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda