about
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.Mutant human FUS Is ubiquitously mislocalized and generates persistent stress granules in primary cultured transgenic zebrafish cellsA yeast functional screen predicts new candidate ALS disease genesFrontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.Exome sequencing to identify de novo mutations in sporadic ALS triosCyclin F: A component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer.Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.Pathophysiological insights into ALS with C9ORF72 expansions.Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.Neuronal cell culture from transgenic zebrafish models of neurodegenerative diseaseCYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosisGenetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 miceTheme 3 In vitro experimental modelsThe C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counselingEvidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Jennifer A. Fifita
@ast
Jennifer A. Fifita
@en
Jennifer A. Fifita
@es
Jennifer A. Fifita
@nl
Jennifer A. Fifita
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type
label
Jennifer A. Fifita
@ast
Jennifer A. Fifita
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Jennifer A. Fifita
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Jennifer A. Fifita
@nl
Jennifer A. Fifita
@sl
altLabel
Jennifer A Fifita
@en
Jennifer Solski
@en
prefLabel
Jennifer A. Fifita
@ast
Jennifer A. Fifita
@en
Jennifer A. Fifita
@es
Jennifer A. Fifita
@nl
Jennifer A. Fifita
@sl
P106
P1153
55613624300
P21
P2798
P31
P496
0000-0002-0814-0118