Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Clinical phenotype of frontotemporal dementia associated with the Pro392Leu SQSTM1 mutation.
Roa-Escobar J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Segarra-Casas A et al.
Annals of Clinical and Translational Neurology, 2025
Potential role of stress granules and myogranules in amyotrophic lateral sclerosis.
Ishaq SM et al.
Frontiers in Molecular Neuroscience, 2025
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
Panos-Basterra P et al.
Neuromuscular Disorders : Nmd, 2024
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Bermejo-Guerrero L et al.
Neuromuscular Disorders : Nmd, 2023
The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases-The Symptomatic Heterozygote Issue.
Kalyta K et al.
Genes, 2023
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P et al.
Annals of Clinical and Translational Neurology, 2023
The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).
Johnson MA et al.
Neurobiology of Disease, 2022
Update on the pathogenesis and genetics of Paget's disease of bone.
Gennari L et al.
Frontiers in Cell and Developmental Biology, 2022
Multisystem proteinopathy: Where myopathy and motor neuron disease converge.
Korb MK et al.
Muscle & Nerve, 2021
Genetic analysis of ALS cases in the isolated island population of Malta.
Borg R et al.
European Journal of Human Genetics : Ejhg, 2021
Restriction of an intron size en route to endothermy.
Královičová J et al.
Nucleic Acids Research, 2021
Rare Inherited forms of Paget's Disease and Related Syndromes.
Ralston SH et al.
Calcified Tissue International, 2019
The unfolding spectrum of inherited distal myopathies.
Milone M et al.
Muscle & Nerve, 2019
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.
Baradaran-Heravi Y et al.
Neurobiology of Aging, 2018
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
Targeted next-generation sequencing assay for detection of mutations in primary myopathies.
Evilä A et al.
Neuromuscular Disorders : Nmd, 2016