Search filters

List of works by Kelly L Williams

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

scientific article published in November 2009

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

Arts syndrome is caused by loss-of-function mutations in PRPS1

scientific article

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

scientific article published in October 2021

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

scientific article published on 15 April 2016

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

scientific article published on 12 February 2008

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

scientific article published on 01 March 2020

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

scientific article

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

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

scholarly article

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

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

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

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

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

scientific article published on 3 December 2009

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

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

scientific article published on 07 August 2020

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

scientific article published on 26 March 2021

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

scientific article published on 4 June 2019

Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase.

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 VCP in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 22 December 2011

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

article

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

scientific article (publication date: 27 February 2009)

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

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

scientific article published on 18 August 2015

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy

scientific article published on 29 August 2017

Pathophysiological insights into ALS with C9ORF72 expansions.

scientific article published on 5 March 2013

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

scientific article published on 6 June 2017

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

scientific article published on November 2010

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

scientific article published on 27 February 2020

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article

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

scientific article

Paulina is supported by:

About Paulina

Help