Diseases · Entity Annotation Prototype (beta)

2articles mentioning diseases

2disease mentions

1distinct diseases extracted

0%of mentions human-reviewed

Active filtersEntity: Charcot-Marie-Tooth disease type 2 ×

Charcot-Marie-Tooth disease type 2

This disease is selected. Its supporting articles are shown below.

Charcot-Marie-Tooth disease type 22

Articles mentioning Charcot-Marie-Tooth disease type 2

2 articles · page 1 of 1

Novel KIF5A variant in a patient with early-onset levodopa-responsive Parkinson’s syndrome

bmjcr · abstract · 2026-02-02 · 1 matching annotations

95.4%

amyotrophic lateral sclerosis Charcot-Marie-Tooth disease type 2 hereditary spastic paraplegia type 10 spastic paraplegia levodopa-responsive

…stic paraplegia type 10, Charcot-Marie-Tooth disease type 2 and amyotrophic lateral sclerosis. We discuss the clinical, genetic and prognostic implications o…

New variants and genotype–phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort

jmedgenet · abstract · 2025-09-19 · 1 matching annotations

90.6%

amyotrophic lateral sclerosis hereditary spastic paraplegia Charcot-Marie-Tooth disease type 2