List of works - Emily P McCann

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

scientific article

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

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

scientific article published in September 2017

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

scientific article published on 14 May 2020

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

scientific article published on 25 July 2016

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

scientific article published on 07 August 2020

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

scientific article published on 4 June 2019

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

scientific article published on 20 November 2014

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

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

scientific article published in January 2017

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

List of works by Emily P McCann