Nicole Caccavo

ORCID: 0000-0003-1649-5557
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About
Contact & Profiles
Research Areas
  • Amyotrophic Lateral Sclerosis Research
  • Neurogenetic and Muscular Disorders Research
  • Neurological diseases and metabolism

Temple University
2022

Amyotrophic lateral sclerosis (ALS) is the most common degenerative motor neuron disorder. Although cases of ALS are sporadic, 5–10% familial, with mutations associated over 40 genes. There variation symptoms within families carrying same mutation; disease may develop in one sibling and not another despite presence mutation both. cause this phenotypic unknown, it likely related to genetic modifiers expression. The identification causing genes has led development transgenic mouse models...

10.1371/journal.pone.0274615 article EN cc-by PLoS ONE 2022-09-15
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