I. Blair

N. Luquin, K. Williams, I. Blair, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

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

I. Blair, Shu Yang, J. Fifita, 2017, The international journal of biochemistry & cell biology.

TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex

A. G. Redondo, I. Blair, Shu Yang, 2022, Neurobiology of Disease.

Association between DNA methylation variability and self-reported exposure to heavy metals

N. Wray, A. McRae, A. Henders, 2022, Scientific Reports.

Mutant Cyclin F Impedes COPII Vesicle-Mediated ER-Golgi Trafficking and ER-Associated Degradation, Inducing ER Stress and Golgi Fragmentation in ALS/FTD

K. Williams, I. Blair, A. Konopka, 2021 .

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

C. Larsson, B. Teh, P. Silburn, 1998, Neurology.

Ubiquitin Homeostasis Is Disrupted in TDP-43 and FUS Cell Models of ALS

D. Saunders, K. Vine, Jeremy S. Lum, 2020, iScience.

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

K. Williams, I. Blair, G. Nicholson, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

N. Wray, D. Lancet, M. Snyder, 2020, Cell reports.

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

P. Visscher, N. Wray, A. McRae, 2020, npj Genomic Medicine.

Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.

M. Ruberg, K. Silander, A. Brice, 1999, Human molecular genetics.

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

K. Double, G. Halliday, S. Lewis, 2017, Acta Neuropathologica.

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred

K. Williams, I. Blair, G. Nicholson, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

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

D. Saunders, I. Blair, S. Warraich, 2015, Scientific Reports.

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

I. Blair, G. Nicholson, Shu Yang, 2010, The international journal of biochemistry & cell biology.

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

Robert H. Brown, A. Fujiyama, A. Toyoda, 2013, American journal of human genetics.

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

I. Blair, G. Nicholson, J. Atkin, 2019, Zebrafish.

ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis

I. Blair, A. Konopka, Shu Yang, 2018, Human molecular genetics.

Mutant Human FUS Is Ubiquitously Mislocalized and Generates Persistent Stress Granules in Primary Cultured Transgenic Zebrafish Cells

I. Blair, G. Nicholson, J. Fifita, 2014, PloS one.

Erratum: Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development (Neuron (2017) 94(2) (322–336.e5)(S0896627317302386)(10.1016/j.neuron.2017.03.026))

W. Talbot, C. Shaw, S. Topp, 2017 .

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

Denis C. Bauer, L. Henden, M. Kiernan, 2020, Journal of Medical Genetics.

Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis

Denis C. Bauer, L. Henden, M. Kiernan, 2021, Neurobiology of Aging.

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

C. Dobson, M. Vendruscolo, I. Blair, 2019, Neuroscience Letters.

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

I. Blair, G. Nicholson, J. Dawkins, 1997, Cytogenetics and cell genetics.

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

S. Brahmbhatt, I. Blair, G. Nicholson, 2001, American journal of human genetics.

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

G. Rouleau, K. Williams, I. Blair, 2012, Neurobiology of Aging.

Single test for two hereditary neuropathies, CMT1A and HNPP.

I. Blair, G. Nicholson, M. Kennerson, 1995, Clinical Chemistry.

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

I. Blair, G. Nicholson, M. Kennerson, 1995, Clinical chemistry.

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

I. Blair, G. Nicholson, Katharine Y. Zhang, 2015, Neurotoxicity Research.

Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD.

I. Blair, R. Chung, M. Morsch, 2022, The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry.

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

M. Molloy, B. Shi, K. Williams, 2017, Open Biology.

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

M. Molloy, K. Williams, I. Blair, 2017, Human molecular genetics.

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

G. Guillemin, K. Williams, I. Blair, 2017, Human molecular genetics.

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

Adam J. Svahn, I. Blair, G. Nicholson, 2018, Biology Open.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2021, JAMA neurology.

Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2019, bioRxiv.

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

I. Blair, G. Nicholson, Shu Yang, 2010, The international journal of biochemistry & cell biology.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

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

M. Marshall, E. Duncan, D. Rowe, 2015, Neurobiology of Aging.

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

K. Williams, I. Blair, G. Nicholson, 2013, Neurobiology of Aging.

Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.

I. Blair, G. Nicholson, A. Drew, 2011, Current molecular medicine.

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.

H. Hakonarson, Cecilia Kim, J. Trojanowski, 2012, Human molecular genetics.

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

C. Shaw, C. Vance, K. Williams, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis

K. Williams, I. Blair, G. Nicholson, 2012, Neurobiology of Aging.

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

M. Molloy, K. Williams, I. Blair, 2017, Human molecular genetics.

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

Denis C. Bauer, L. Henden, M. Kiernan, 2020, npj Genomic Medicine.

IBD analysis of Australian amyotrophic lateral sclerosis SOD1-mutation carriers identifies five founder events and links sporadic cases to existing ALS families

Denis C. Bauer, L. Henden, M. Kiernan, 2019, bioRxiv.

Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord

Melanie Y. White, D. Paterson, R. Ortega, 2022, Brain : a journal of neurology.

THEME 3 IN VITRO EXPERIMENTAL MODELS IVT-01 Deregulation of TBK1-mediated autophagy by ALS- associated microRNA-340

I. Blair, A. Deva, J. Galper, 2022 .

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

A. Hewitt, A. Pébay, M. Cabral-da-Silva, 2020, Cells.

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis

Denis C. Bauer, K. Williams, I. Blair, 2015, Neurobiology of Aging.

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

W. Talbot, C. Shaw, S. Topp, 2017, Neuron.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Timothy A. Miller, A. Al-Chalabi, C. Shaw, 2022, Nature Communications.

NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk

Liam G. Fearnley, M. Bahlo, L. Henden, 2022, Neurobiology of Aging.

Neuronal intranuclear inclusion disease is genetically heterogeneous

Nick C Fox, J. Hardy, D. Dickson, 2020, Annals of clinical and translational neurology.

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

G. Halliday, J. Kwok, A. McEwen, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

Timothy A. Miller, R. Dobson, A. Al-Chalabi, 2022, bioRxiv.

Clinical testing panels for ALS: global distribution, consistency, and challenges

A. Al-Chalabi, J. Landers, E. Rampersaud, 2022, medRxiv.

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.

C. Stevens, M. Cabral-da-Silva, Martin Engel, 2019, Stem cell research.

Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics

Ashley R. Jones, N. Wray, R. Dobson, 2020, Cell reports.

Theme 3 In vitro experimental models

I. Blair, Shu Yang, E. McCann, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

Denis C. Bauer, Timothy J. Peters, S. Clark, 2019, Scientific Reports.

Exome sequencing to identify de novo mutations in sporadic ALS trios

G. Crabtree, O. King, J. Glass, 2013, Nature Neuroscience.

Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration

C. Shaw, C. Troakes, S. Al-Sarraj, 2022, Acta neuropathologica communications.

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

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

Techniques for the Identification of Genes Involved in Psychiatric Disorders

P. Mitchell, P. Schofield, I. Blair, 2005, The Australian and New Zealand journal of psychiatry.

Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways

Annelot M. Dekker, Ahmad Al Khleifat, N. Wray, 2021, medRxiv.

Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS

Annelot M. Dekker, N. Wray, A. McRae, 2022, Science Translational Medicine.

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

R. Marioni, P. Visscher, N. Wray, 2021, Genome biology.

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

M. Kiernan, K. Williams, I. Blair, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

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

K. Fischbeck, I. Blair, J. Griffin, 2000, Neurogenetics.

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

P. Schofield, P. Mitchell, P. Mitchell, 2002, Molecular Psychiatry.

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Xun Hu, Kelly L. Williams, Christopher E. Shaw, 2008, Science.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

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

G. Guillemin, I. Blair, Shu Yang, 2019, Cellular and Molecular Life Sciences.

Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations

C. Stevens, B. Shi, I. Blair, 2021, Frontiers in Molecular Neuroscience.

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

P. Visscher, N. Wray, A. McRae, 2020, npj Genomic Medicine.

Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis

Amy K. Cain, L. Henden, Zong-Hong Zhang, 2021, Neuropathology and applied neurobiology.

ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ.

M. Molloy, B. Shi, I. Blair, 2021, Human molecular genetics.

SFPQ intron retention, reduced expression and aggregate formation in central nervous system tissue are pathological features of amyotrophic lateral sclerosis

Amy K. Cain, L. Henden, Zong-Hong Zhang, 2020, bioRxiv.

BioID analysis of the cyclin F interactome reveals that ALS-variant cyclin F alters the homeostasis of paraspeckle-associated proteins

M. Molloy, B. Shi, I. Blair, 2020, bioRxiv.

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

Annelot M. Dekker, Raymond D. Schellevis, N. Wray, 2017, European Journal of Human Genetics.

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

Denis C. Bauer, D. Rowe, K. Williams, 2017, Neurodegenerative Diseases.

The genotype–phenotype landscape of familial amyotrophic lateral sclerosis in Australia

D. Rowe, K. Williams, I. Blair, 2017, Clinical genetics.

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

W. Talbot, C. Shaw, S. Topp, 2017, Neuron.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Robert H. Brown, R. Petersen, B. Boeve, 2016, Nature Communications.

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

I. Blair, S. Warraich, J. Atkin, 2015, Cell Death Discovery.

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

I. Blair, G. Nicholson, Katharine Y. Zhang, 2015, Neurotoxicity Research.

Pathophysiological insights into ALS with C9ORF72 expansions

M. Kiernan, K. Williams, I. Blair, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

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

I. Blair, S. Warraich, J. Atkin, 2013, Human molecular genetics.

A yeast functional screen predicts new candidate ALS disease genes

J. Trojanowski, R. Kalb, D. Dickson, 2011, Proceedings of the National Academy of Sciences.

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

P. Schofield, P. Sachdev, M. Barcikowska, 2010, Annals of neurology.

Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia

P. Visscher, N. Wray, A. McRae, 2021, European Journal of Human Genetics.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

Denis C. Bauer, Annelot M. Dekker, Ashley R. Jones, 2017, Nature Communications.

The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22.1–q22.3

A. Cherryson, I. Blair, G. Nicholson, 1996, Nature Genetics.

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

P. Schofield, K. Kirkby, P. Mitchell, 2009, Molecular Psychiatry.

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

Janice M. Fullerton, J. Fullerton, P. Mitchell, 2008, Psychiatric genetics.

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

P. Visscher, Sonia Shah, N. Wray, 2017, Nature Communications.

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

Ewout J. N. Groen, Annelot M. Dekker, Ross P. Byrne, 2021, Nature Genetics.

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

A. Crook, D. Rowe, K. Williams, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

Denis C. Bauer, J. Hodges, G. Halliday, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis

Denis C. Bauer, G. Guillemin, M. Kiernan, 2021, Frontiers in Immunology.

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

Grace E. Lidgerwood, T. Boeckers, P. Crouch, 2015, Human molecular genetics.

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

Shankaracharya, J. Hodges, J. Fullerton, 2020, Brain : a journal of neurology.

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

G. Guillemin, K. Williams, I. Blair, 2015, Human molecular genetics.

Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

Z. Hořejší, I. Blair, G. Nicholson, 2020, Molecular neurodegeneration.

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

Denis C. Bauer, Timothy J. Peters, S. Clark, 2019, Scientific Reports.

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.

I. Blair, G. Nicholson, J. Dawkins, 1998, Genomics.

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

P. Mitchell, P. Schofield, I. Blair, 2005, Psychiatric genetics.

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

P. Schofield, P. Mitchell, I. Blair, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

P. Gleeson, I. Blair, Shu Yang, 2017, Human molecular genetics.

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

P. Gleeson, I. Blair, Shu Yang, 2014, Human molecular genetics.

Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia

Emma L. Scotter, I. Blair, G. Nicholson, 2023, bioRxiv.

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

K. Williams, I. Blair, Katharine Y. Zhang, 2017, Journal of neuromuscular diseases.

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

J. Fullerton, P. Schofield, G. Halliday, 2013, Acta Neuropathologica.

Sensitive Detection of Motor Neuron Disease Derived Exosomal miRNA Using Electrocatalytic Activity of Gold‐Loaded Superparamagnetic Ferric Oxide Nanocubes

Yusuke Yamauchi, Rabbee G Mahmudunnabi, Muhammad J. A. Shiddiky, 2020 .

The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis

K. Williams, I. Blair, Shu Yang, 2023, Molecular Neurobiology.

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

I. Blair, G. Nicholson, M. Kennerson, 2007, Human Genetics.

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

Liam G. Fearnley, K. Friend, J. Kwok, 2023, Science advances.

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases.

Denis C. Bauer, L. Henden, M. Kiernan, 2020, NPJ genomic medicine.

Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.

P. Chance, I. Blair, C. Bennett, 2002, American journal of medical genetics.

Life events, first depression onset and the serotonin transporter gene

Philip B. Mitchell, Peter R. Schofield, Adam Finch, 2006, British Journal of Psychiatry.

Constitutive overexpression of the ALS-linked gene CCNF fusions results in cytotoxicity to preclude generation of transgenic zebrafish models

K. Williams, I. Blair, J. Fifita, 2018 .

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

P. Visscher, N. Wray, X. Chen, 2017, Nature Communications.

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

A. Crook, D. Rowe, K. Williams, 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Simultaneous Isolation of High-Quality RNA and DNA From Postmortem Human Central Nervous System Tissues for Omics Studies.

L. Henden, K. Williams, I. Blair, 2021, Journal of neuropathology and experimental neurology.

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

Kelly L. Williams, Ian P. Blair, Shu Yang, 2012, Neurobiology of Aging.

Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy

C. Mesaros, I. Blair, James Wilson, 2023, Research square.

ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.

D. Saunders, I. Blair, L. Ooi, 2023, Human Molecular Genetics.

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants

L. Henden, K. Williams, I. Blair, 2023, Journal of neuromuscular diseases.

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

R. Marioni, P. Visscher, N. Wray, 2021, Genome Biology.

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.

H. Hakonarson, Cecilia Kim, J. Trojanowski, 2012, Human molecular genetics.

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

I. Blair, G. Nicholson, Shu Yang, 2010, The international journal of biochemistry & cell biology.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Ashley R. Jones, F. Baas, 2016, Nature Genetics.

Distribution of ubiquilin 2 and TDP‐43 aggregates throughout the CNS in UBQLN2 p.T487I‐linked amyotrophic lateral sclerosis and frontotemporal dementia

Emma L. Scotter, I. Blair, G. Nicholson, 2023, bioRxiv.

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

A. Crook, D. Rowe, K. Williams, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

Annelot M. Dekker, Raymond D. Schellevis, Ashley R. Jones, 2016, Nature Genetics.

ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation

S. Saravanabavan, K. Williams, I. Blair, 2023, Scientific reports.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Hannah A. Pliner, John D. Eicher, Janel O. Johnson, 2021, JAMA Neurology.

RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery

L. Henden, K. Williams, I. Blair, 2023, Neuropathology and applied neurobiology.

TRIBES: A user-friendly pipeline for relatedness detection and disease gene discovery

Denis C. Bauer, L. Henden, K. Williams, 2019, bioRxiv.

Targeting 14-3-3θ-mediated TDP-43 pathology in amyotrophic lateral sclerosis and frontotemporal dementia mice

J. Kril, N. Haass, I. Blair, 2024, Neuron.