Lista de obras - Jennifer A. Fifita - Dominio Público Uruguay

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

artículo científico publicado en 2020

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

Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.

artículo científico publicado en 2017

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Cyclin F: A component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer.

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

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.

artículo científico publicado en 2015

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

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

artículo científico publicado en 2017

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis

artículo científico publicado en 2013

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

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis ⬇️

artículo científico publicado el 28 de abril de 2013

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

artículo científico publicado en 2014

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

article

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Pathophysiological insights into ALS with C9ORF72 expansions.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2012

Lista de obras de 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

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

Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

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

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

Cyclin F: A component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer.

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

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.

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

Exome sequencing to identify de novo mutations in sporadic ALS trios

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological 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

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

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

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis ⬇️

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

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

Pathophysiological insights into ALS with C9ORF72 expansions.

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

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

Theme 3 In vitro experimental models

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