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

First report of a rare mutation in a Polish patient with painful late-onset transthyretin amyloidosis.

Journal of the neurological sciences - 15 Nov 2014

Hagenacker T, Brenck J, Kastrup O

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Amyloid Neuropathies, Familial
Share to DNA Mutational Analysis
Share to Mutation
Share to Prealbumin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25130926
DOI: 10.1016/j.jns.2014.07.065

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First report of a rare mutation in a Polish patient with painful late-onset transthyretin amyloidosis.PMID 25130926Read ↗

A late-onset case of hereditary transthyretin amyloidosis with a novel compound heterozygous mutation.Semantic proximity Read ↗

Transthyretin-related Familial Amyloid Polyneuropathy (TTR-FAP) caused by a very rare, de novo mutation in a Polish patient.Semantic proximity Read ↗

Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UKSemantic proximity Read ↗

Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis.Semantic proximity Read ↗

A new transthyretin mutation associated with leptomeningeal amyloidosis.Semantic proximity Read ↗

New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy.Semantic proximity Read ↗

Genetic phenotypes and clinical characteristics description of hereditary transthyretin patients in ChinaSemantic proximity Read ↗

Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.Semantic proximity Read ↗

The genetic heterogeneity of hereditary transthyretin amyloidosis in a sample of the Brazilian population.Semantic proximity Read ↗

Hereditary transthyretin amyloidosis caused by p.Ser43Asn variant. A new endemic variant in Ecuador.Semantic proximity Read ↗

[Late-onset hereditary transthyretin amyloidosis with polyneuropathy. Report of one case].Semantic proximity Read ↗

Phenotype of a second Irish variant causing hereditary amyloidogenic transthyretin amyloidosis.Semantic proximity Read ↗

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