Associated Papers
A Very Rare Setx Gene Variant (C.2750T>C) In a 72-year-old Man with Amyotrophic Lateral Sclerosis and an Unremarkable Family History. Should Genetic Testing be Routinely Performed in all Patients?
Posa A et al.
European Journal of Case Reports in Internal Medicine, 2025
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 2023
37223130 (PubMed )
Supplement: fcad152_supplementary_data.pdf
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
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
32397312 (PubMed )
Supplement: ijms-21-03346-s001.pdf
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.
Pensato V et al.
Journal of Clinical Medicine, 2020
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
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