Associated Papers
The ALS-associated E425K mutation uncouples DNAJC7 from the Hsp70 chaperone cycle.
Elmaleh B et al.
The Febs Journal, 2026
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
American Journal of Human Genetics, 2025
40957416 (PubMed )
Supplement: mmc2.xlsx › Huang2024_ClinicalPhenotypes
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A et al.
Biorxiv : the Preprint Server for Biology, 2025
40060668 (PubMed )
Supplement: media-2.xlsx › Huang2024_ClinicalPhenotypes
Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.
Huang M et al.
Translational Neurodegeneration, 2024
Interplay of Metallome and Metabolome in Amyotrophic Lateral Sclerosis: A Study on Cerebrospinal Fluid of Patients Carrying Disease-Related Gene Mutations.
Solovyev N et al.
Acs Chemical Neuroscience, 2023
The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis.
Martinelli I et al.
Neural Regeneration Research, 2023
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.
Canosa A et al.
Biomedicines, 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
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants.
Dalla Bella E et al.
Neurology, 2022
Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes.
Canosa A et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2022
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.
Bartoletti-Stella A et al.
Journal of Neurology, 2021
33770234 (PubMed )
Supplement: 415_2021_10521_MOESM1_ESM.docx
11 C-PK11195 PET-based molecular study of microglia activation in SOD1 amyotrophic lateral sclerosis.
Tondo G et al.
Annals of Clinical and Translational Neurology, 2020
A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment.
Martinelli I et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
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