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Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries.

Ilaria MartinelliAndrea GhezziElisabetta ZucchiGiulia GianferrariLaura FerriCristina MogliaUmberto ManeraLuca SoleroRosario VastaAntonio CanosaMaurizio GrassanoMaura BrunettiLetizia MazziniFabiola De MarchiCecilia SimoniniNicola FiniMarco VincetiMarcello PintiAdriano ChiòAndrea CalvoJessica Mandrioli
Published in: Journal of neurology (2023)
Within the context of an overall slower disease, SOD1-ALS exhibits some degree of heterogeneity linked to the considerable genetic diversity arising from the multitude of potential mutations sites and specific clinical prognostic factors, including cancer history. Revealing the factors that modulate the phenotypic heterogeneity of SOD1-ALS could prove advantageous in improving the efficacy of upcoming therapeutic approaches.
Keyphrases
  • amyotrophic lateral sclerosis
  • prognostic factors
  • genetic diversity
  • single cell
  • papillary thyroid
  • squamous cell
  • squamous cell carcinoma
  • young adults
  • childhood cancer