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List of works by Jennifer A. Fifita

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

scientific article

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

scientific article published on 16 March 2012

A yeast functional screen predicts new candidate ALS disease genes

scientific article published on 7 November 2011

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

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

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

scientific article published on 01 March 2020

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

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

scientific article

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

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 21 April 2017

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

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-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

Mutant human FUS Is ubiquitously mislocalized and generates persistent stress granules in primary cultured transgenic zebrafish cells

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

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

scientific article published on 16 October 2018

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

scientific article published on 18 August 2015

Pathophysiological insights into ALS with C9ORF72 expansions.

scientific article published on 5 March 2013

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

scientific article published on 23 March 2019

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

scientific article published on 20 January 2017

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

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