Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Charcot-Marie-Tooth disease and pathways to molecular based therapies.

Clinical genetics - 1 Nov 2014

Harel T, Lupski J R

Abstract excerpt

The discovery in 1991 that chromosome 17p12 duplication is associated with Charcot-Marie-Tooth (CMT) disease marked the beginning of an era of molecular insight into this disorder, which encompasses the peripheral motor and sensory neuropathies. A mere two decades later, over 40 subtypes of CMT have been molecularly defined and many have been extensively studied in vitro and in animal models, providing the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Charcot-Marie-Tooth Disease
Share to Genetic Testing
Share to Hereditary Neurological Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Molecular Diagnostic Techniques

Share to Molecular Targeted Therapy

Share to Neurological diseases and metabolism

Share to Peripheral Neuropathies and Disorders

Share to Phenotype

Source

Identifiers

PMID: 24697164
DOI: 10.1111/cge.12393

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Charcot-Marie-Tooth disease and pathways to molecular based therapies.PMID 24697164Read ↗

Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy.Semantic proximity Read ↗

Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies.Semantic proximity Read ↗

CMT1A current gene therapy approaches and promising biomarkersSemantic proximity Read ↗

Mechanisms and Treatments in Demyelinating CMT.Semantic proximity Read ↗

Charcot-Marie-Tooth neuropathies: diagnosis and management.Semantic proximity Read ↗

Charcot-Marie-Tooth: From Molecules to TherapySemantic proximity Read ↗

Update on Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.Semantic proximity Read ↗

Charcot-Marie-Tooth disease and related neuropathies.Semantic proximity Read ↗

Charcot-Marie-Tooth disease: an overview of genotypes, phenotypes, and clinical management strategies.Semantic proximity Read ↗

Charcot-Marie-Tooth disease and related genetic neuropathies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.