Lista de obras - Kelly L Williams - Dominio Público Uruguay

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

A yeast functional screen predicts new candidate ALS disease genes

artículo científico publicado en 2011

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

artículo científico publicado en 2007

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico

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

artículo científico

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2020

Exome sequencing to identify de novo mutations in sporadic ALS trios

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis

artículo científico publicado en 2021

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis

artículo científico publicado en 2017

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

artículo científico publicado en 2019

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 2021

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

artículo científico publicado en 2014

Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 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

artículo científico publicado en 2009

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Pathophysiological insights into ALS with C9ORF72 expansions.

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2008

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

artículo científico publicado en 2012

Lista de obras de Kelly L Williams

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

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

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

A yeast functional screen predicts new candidate ALS disease genes

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

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

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

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

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

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

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

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

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

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

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

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

Exome sequencing to identify de novo mutations in sporadic ALS trios

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

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

Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

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

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

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

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

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

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

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

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

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

Pathophysiological insights into ALS with C9ORF72 expansions.

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

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

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

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

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