Ian P. Blair

Level 1, 75 Talavera Road
Sydney, NSW 2109, Australia

Last Updated: 09/26/2026

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Found 108 publications

Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile.

Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile.

Journal: BMJ open

Published: June 18, 2026

ALS-FTD-linked CCNFS621G drives increased hippocampal astrocyte ramification and mitochondrial dysfunction and impairs motor neuron excitability.

ALS-FTD-linked CCNFS621G drives increased hippocampal astrocyte ramification and mitochondrial dysfunction and impairs motor neuron excitability.

Journal: Journal of neuroinflammation

Published: January 08, 2026

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

Journal: Nature genetics

Published: August 15, 2025

Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease.

Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease.

Journal: Human molecular genetics

Published: August 08, 2025

Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism.

Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism.

Journal: bioRxiv : the preprint server for biology

Published: July 17, 2025

Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism.

Human TDP-43 overexpression in zebrafish motor neurons triggers MND-like phenotypes through gain-of-function mechanism.

Journal: Acta neuropathologica communications

Published: July 11, 2025

A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.

A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Journal: Neurobiology of disease

Published: May 28, 2025

Parkinson-like wild-type superoxide dismutase 1 pathology induces nigral dopamine neuron degeneration in a novel murine model.

Parkinson-like wild-type superoxide dismutase 1 pathology induces nigral dopamine neuron degeneration in a novel murine model.

Journal: Acta neuropathologica

Published: October 30, 2024

Multi-region brain transcriptomic analysis of amyotrophic lateral sclerosis reveals widespread RNA alterations and substantial cerebellum involvement.

Multi-region brain transcriptomic analysis of amyotrophic lateral sclerosis reveals widespread RNA alterations and substantial cerebellum involvement.

Journal: Molecular neurodegeneration

Published: August 14, 2024

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

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

Journal: Nature communications

Published: July 02, 2024

Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry.

Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: May 10, 2024

Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).

Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).

Journal: Acta neuropathologica communications

Published: November 20, 2023

Showing 1-12 of 108

Last Updated: 09/26/2026