Jennifer A. Fifita

Sydney, NSW 2109, Australia

Last Updated: 09/26/2026

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Found 36 publications

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

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

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

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

Journal: Journal of neuromuscular diseases

Published: August 28, 2023

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

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

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: March 10, 2023

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

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

Journal: Acta neuropathologica communications

Published: July 28, 2022

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

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

Journal: Brain : a journal of neurology

Published: December 14, 2021

Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis.

Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis.

Journal: Frontiers in immunology

Published: April 28, 2021

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

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

Journal: Neuropathology and applied neurobiology

Published: December 03, 2020

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.

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.

Journal: Frontiers in molecular neuroscience

Published: November 10, 2020

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

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

Journal: Neurobiology of aging

Published: October 06, 2020

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 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.

Journal: Cells

Published: August 03, 2020

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

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

Journal: Journal of medical genetics

Published: January 20, 2020

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Last Updated: 09/26/2026