Assistente RarasDescreva sintomas, busque uma doença ou conte sua história. Eu pesquiso em 10.468 doenças raras.
Raras pode cometer erros. Não substitui orientação médica profissional.
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
23 ensaios clínicos encontrados, 11 ativos.
Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease.
A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies.
Metabolic signatures in sciatic nerve of PMP22 transgenic rats provide insights into the pathogenesis of charcot-marie-tooth disease type 1 A.
Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study.
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.