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

Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France.

Annals of neurology - 1 Dec 2015

Mariani Louise-Laure, Lozeron Pierre, Théaudin Marie, Mincheva Zoia, Signate Aissatou, Ducot Beatrice, Algalarrondo Vincent, Denier Christian, Adam Clovis, Nicolas Guillaume, Samuel Didier, Slama Michel S, Lacroix Catherine, Misrahi Micheline, Adams David

Abstract excerpt

OBJECTIVE: To compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical Portuguese Val30Met FAP. METHODS: We compared 84 French patients with a control group of 110 Portuguese patients carrying the Val30Met mutation also living in France, all referred to and followed at the French National FAP Reference...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Aged, 80 and over

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

Share to Amyloid

Share to Amyloid Neuropathies, Familial

Share to Disease Progression

Share to France

Share to Portugal

Share to Prealbumin

Source

Open in PubMed Open full text

Identifiers

PMID: 26369527
DOI: 10.1002/ana.24519
PMCID: PMC4738459

Genes

FAP
TTR

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

Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France.PMID 26369527Read ↗

Regional difference and similarity of familial amyloidosis with polyneuropathy in France.Semantic proximity Read ↗

Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy.Semantic proximity Read ↗

Phenotypic expression of familial amyloid polyneuropathy in Brazil.Semantic proximity Read ↗

Late-onset familial amyloid polyneuropathy (FAP) Val30Met without family history.Semantic proximity Read ↗

[Familial amyloidotic polyneuropathies].Semantic proximity Read ↗

Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic AreaSemantic proximity Read ↗

Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil.Semantic proximity Read ↗

A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.Semantic proximity Read ↗

A novel variant mutation of transthyretin Ile73Val-related amyloidotic polyneuropathy in Taiwanese.Semantic proximity Read ↗

Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.Semantic proximity Read ↗

Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy.Semantic proximity Read ↗

A Study of Familial Amyloid Polyneuropathy Induced by the TTR Val30Leu Mutation in China.Semantic proximity Read ↗

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