Associated Papers
Atypical Frontotemporal Dementia Associated With SQSTM1 Gene Mutation: A Clinicopathological Case.
Espinoza-Vinces C et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis.
Wang S et al.
Journal of Medical Genetics, 2024
Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.
Legati A et al.
Current Neurology and Neuroscience Reports, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
Genetic architecture of common non-Alzheimer's disease dementias.
Guerreiro R et al.
Neurobiology of Disease, 2020
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.
McCann EP et al.
Journal of Medical Genetics, 2020
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Scarlino S et al.
International Journal of Molecular Sciences, 2020
Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes.
Picillo M et al.
Journal of Alzheimer's Disease : Jad, 2020
Theme 2 Genetics and genomics.
Roggenbuck J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
Abad C et al.
Biology, 2018
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.
Dols-Icardo O et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Borghero G et al.
Neurobiology of Aging, 2016
Exome sequencing in dementia with Lewy bodies.
Keogh MJ et al.
Translational Psychiatry, 2016
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.
Cuyvers E et al.
Neurobiology of Aging, 2015
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Cady J et al.
Annals of Neurology, 2015
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J et al.
Acta Neuropathologica, 2014
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.
Kwok CT et al.
European Journal of Human Genetics : Ejhg, 2014
SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis.
Chen Y et al.
Neurobiology of Aging, 2014
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
Le Ber I et al.
Jama Neurology, 2013
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Kenna KP et al.
Human Mutation, 2013
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Fecto F et al.
Archives of Neurology, 2011