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List of works by Ian P Blair

A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling

scientific article published on 02 September 2020

A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma

scientific article published on 01 July 1998

A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34

scientific article published on 01 September 2000

A genome screen of 35 bipolar affective disorder pedigrees provides significant evidence for a susceptibility locus on chromosome 15q25-26

article

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

scientific article published in November 2009

A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.

scientific article

A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36

scientific article published on 13 March 2007

A novelTARDBPinsertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis

scientific article published on 16 March 2012

A transcript map encompassing a susceptibility locus for bipolar affective disorder on chromosome 4q35.

scientific article published in January 2002

A yeast functional screen predicts new candidate ALS disease genes

scientific article published on 7 November 2011

ALS-associated mutant FUS inhibits macroautophagy which is restored by overexpression of Rab1

scientific article published on 14 September 2015

Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.

scientific article published on 19 October 2017

Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress

scientific article published on 04 December 2019

Association analysis of transcripts from the bipolar susceptibility locus on chromosome 4q35, exclusion of a pathogenic role for eight positional candidate genes

scientific article published in April 2005

Association between the serotonin 2A receptor gene and bipolar affective disorder in an Australian cohort.

scientific article published in October 2009

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

scientific article published on November 19, 2012

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

scientific article

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

scientific article published on 10 August 2017

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis

scientific article published on 12 February 2008

CMS-01 Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges

scientific article published on 01 November 2019

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

scientific article published on 01 March 2020

Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(cyclin F) complex.

scientific article

Charcot-Marie-Tooth disease and Noonan syndrome with giant proximal nerve hypertrophy

scientific article published on April 1, 1998

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

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

scientific article published on 20 September 2017

Cyclin F: A component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer.

scientific article published on 23 June 2017

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis

scientific article published in September 2017

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

scientific article published on 9 April 2015

Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction.

scientific article

Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions

scientific article

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

scientific article

ERp57 is protective against mutant SOD1-induced cellular pathology in Amyotrophic Lateral Sclerosis.

scientific article published in February 2018

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.

scientific article

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

scientific article published on 14 May 2020

Exome sequencing to identify de novo mutations in sporadic ALS trios

scientific article published on 26 May 2013

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype

scientific article published on 01 February 2019

Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1→q22.3: exclusion of GAS1 and XPA

scientific article published on January 1, 1997

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis

scientific article published on 22 January 2013

Fused in sarcoma/translocated in liposarcoma: a multifunctional DNA/RNA binding protein.

scientific article published on 10 June 2010

Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNFS621G familial amyotrophic lateral sclerosis patient using mRNA reprogramming

scientific article published on 14 August 2019

Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis

scientific article published on 14 June 2021

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis

scientific article published on 11 November 2017

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

scientific article published on 05 November 2019

Genome screen of 15 Australian bipolar affective disorder pedigrees supports previously identified loci for bipolar susceptibility genes

article

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

scientific article published in March 2018

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

scientific article published on 25 July 2016

Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.

scientific article

Identification, characterization, and association analysis of novel genes from the bipolar disorder susceptibility locus on chromosome 4q35

article

Life events, first depression onset and the serotonin transporter gene

scientific article published in March 2006

Machado-Joseph disease in east Arnhem Land, Australia: chromosome 14q32.1 expanded repeat confirmed in four families

scientific article published on 01 April 1996

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

scientific article published on 26 March 2021

Molecular Genetics and Mechanisms of Disease in Distal Hereditary Motor Neuropathies: Insights Directing Future Genetic Studies

scientific article published on November 1, 2011

Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression.

scientific article published on 4 June 2019

Motor Neuron Abnormalities Correlate with Impaired Movement in Zebrafish that Express Mutant Superoxide Dismutase 1

scientific article published on 27 October 2018

Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase.

scientific article

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

scientific article published on April 28, 2013

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

scientific article published on 20 November 2014

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

article

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

scientific article (publication date: 27 February 2009)

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

scientific article published on 16 October 2018

Neuronal intranuclear inclusion disease is genetically heterogeneous

scientific article published on 10 August 2020

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

scientific article published on 4 April 2017

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

scientific article published on 18 August 2015

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy

scientific article published on 29 August 2017

Pathophysiological insights into ALS with C9ORF72 expansions.

scientific article published on 5 March 2013

Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43.

scientific article

Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele.

scientific article

Postnatal Development of Spasticity Following Transgene Insertion in the Mouse βIV Spectrin Gene (SPTBN4).

scientific article published in January 2017

Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.

scientific article published on 6 June 2017

Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

scientific article published in March 1996

Reconsidering the causality of TIA1 mutations in ALS.

scientific article published on 13 December 2017

Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 5 May 2023

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.

scientific article published on November 2010

Single test for two hereditary neuropathies, CMT1A and HNPP.

scientific article

Stylized transcript map of chromosome 4q35 encompassing the locus for a bipolar disorder susceptibility gene

article

TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway.

scientific article

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article

TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases.

scientific article published on 25 June 2010

Techniques for the identification of genes involved in psychiatric disorders

scientific article

The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling

scientific article published on 23 March 2019

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.

scientific article published on 20 January 2017

The mRNA-based reprogramming of fibroblasts from a SOD1E101G familial amyotrophic lateral sclerosis patient to induced pluripotent stem cell line UOWi007

scientific article published on 16 January 2020

The metastability of the proteome of spinal motor neurons underlies their selective vulnerability in ALS

scientific article published on 03 April 2019

Theme 3 In vitro experimental models

scientific article published on 01 November 2019

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

scientific article

Ubiquilin 2: a component of the ubiquitin-proteasome system with an emerging role in neurodegeneration

scientific article published on 28 February 2014