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

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.

Journal of neurology - 1 Apr 2014

Numata Yurika, Gotoh Leo, Iwaki Akiko, Kurosawa Kenji, Takanashi Jun-Ichi, Deguchi Kimiko, Yamamoto Toshiyuki, Osaka Hitoshi, Inoue Ken

Abstract excerpt

To determine the epidemiological, clinical, and genetic characteristics of congenital hypomyelinating leukodystrophies, including Pelizaeus-Merzbacher disease (PMD), we conducted a nationwide epidemiological survey in Japan. A two-step survey targeting all medical institutions specializing in pediatric neurology and childhood disability (919 institutes) in Japan was performed. Detailed information was collected...

Read the complete abstract on PubMed

Topics

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

Share to Carrier State
Share to Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Incidence

Share to Muscle Hypotonia

Share to Neurologic Examination

Share to Nystagmus, Pathologic

Share to Pelizaeus-Merzbacher Disease

Source

Identifiers

PMID: 24532200
DOI: 10.1007/s00415-014-7263-5

Genes

PLP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.PMID 24532200Read ↗

[Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders].Semantic proximity Read ↗

Hypomyelinating leukodystrophies in adults: Clinical and genetic features.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.Semantic proximity Read ↗

[Research advances in the clinical genetics of leukodystrophy in children].Semantic proximity Read ↗

[Congenital hypomyelinating leukodystrophies--from genomic dissection to molecular diagnosis and potential therapies].Semantic proximity Read ↗

Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.Semantic proximity Read ↗

The leukodystrophies.Semantic proximity Read ↗

Pelizaeus-Merzbacher Disease: A Caregiver Assessment of Disease Impact.Semantic proximity Read ↗

Congenital muscular dystrophies in ChinaSemantic proximity Read ↗

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease as a chromosomal disorder.Semantic proximity Read ↗

Update on Leukodystrophies: A Historical Perspective and Adapted DefinitionSemantic proximity Read ↗

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