Associated Papers
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
Panos-Basterra P et al.
Neuromuscular Disorders : Nmd, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P et al.
Annals of Clinical and Translational Neurology, 2023
Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report.
Wu R et al.
Frontiers in Neurology, 2023
The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.
Foster AD et al.
Neural Regeneration Research, 2020
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
Lee Y et al.
The Journal of Clinical Investigation, 2018
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.
Niu Z et al.
Frontiers in Neurology, 2018
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
Targeted next-generation sequencing assay for detection of mutations in primary myopathies.
Evilä A et al.
Neuromuscular Disorders : Nmd, 2016
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.
Bucelli RC et al.
Neurology, 2015
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
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
Teyssou E et al.
Acta Neuropathologica, 2013
Paget's disease of bone: evidence for complex pathogenetic interactions.
Chung PY et al.
Seminars in Arthritis and Rheumatism, 2012
Genetic aspects of the Paget's disease of bone: concerns on the introduction of DNA-based tests in the clinical practice. Advantages and disadvantages of its application.
Falchetti A et al.
European Journal of Clinical Investigation, 2010
Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.
Falchetti A et al.
Calcified Tissue International, 2009
Identification and molecular characterization of a novel splice-site mutation (G1205C) in the SQSTM1 gene causing Paget's disease of bone in an extended American family.
Beyens G et al.
Calcified Tissue International, 2006
Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.
Beyens G et al.
Calcified Tissue International, 2004