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

Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results.

Annals of the New York Academy of Sciences - 14 Sept 1999

De Jonghe P, Nelis E, Timmerman V, Löfgren A, Martin J J, Van Broeckhoven C

Abstract excerpt

The inherited neuropathies of the peripheral nervous system are clinically and genetically a heterogeneous group of disorders. Molecular genetic studies have made major breakthroughs in unraveling the underlying gene defects, and DNA diagnosis can now be offered to a large number of families with...

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 Gene Frequency
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guidelines as Topic

Share to Mutation

Source

Identifiers

PMID: 10586263

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10586263-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results.PMID 10586263Read ↗

Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.Semantic proximity Read ↗

Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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

A practical approach to the genetic neuropathies.Semantic proximity Read ↗

Molecular genetics of inherited peripheral neuropathies: who are the actors?Semantic proximity Read ↗

DNA testing in hereditary neuropathies.Semantic proximity Read ↗

Genetic testing in inherited peripheral neuropathies.Semantic proximity Read ↗

Inherited peripheral neuropathies.Semantic proximity Read ↗

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.Semantic proximity Read ↗

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineationSemantic proximity Read ↗

[Genetic diagnosis and molecular pathology of inherited neuropathy].Semantic proximity Read ↗

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