Aggiornamento: Nuove pubblicazioni scientifiche raccolte da PubMed

Ecco a voi un elenco di studi interessanti per chi soffre di CMT2A. Li abbiamo raccolti attraverso PubMed che, per chi non lo sapesse, è un database bibliografico contenente informazioni sulla letteratura scientifica biomedica mondiale. Provengono da centri di ricerca famosi a livello globale e sono stati sviluppati da ricercatori che provengono da tutto il mondo. 

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Mitochondrial dynamics and inherited peripheral nerve diseases.

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

A pilot study of proximal strength training in Charcot-Marie-Tooth disease.

Mitofusin 2 expression dominates over mitofusin 1 exclusively in mouse dorsal root ganglia – a possible explanation for peripheral nervous system involvement in Charcot-Marie-Tooth 2A.

Interventions for fatigue in peripheral neuropathy.

Disturbed mitochondrial dynamics and neurodegenerative disorders.

[Review of the recent literature on hereditary neuropathies].

Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update.

Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

Modeling protein misfolding in charcot-marie-tooth disease.

The role of rab proteins in neuronal cells and in the trafficking of neurotrophin receptors.

Exploratory study of physical activity in persons with Charcot-Marie-Tooth disease.

Fateci sapere cosa ne pensate….

Buona lettura!

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