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

Classification and molecular pathogenesis of NBIA syndromes.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2018

Di Meo Ivano, Tiranti Valeria

Abstract excerpt

Brain iron accumulation is the hallmark of a group of seriously invalidating and progressive rare diseases collectively denominated Neurodegeneration with Brain Iron Accumulation (NBIA), characterized by movement disorder, painful dystonia, parkinsonism, mental disability and early death. Currently there is no established therapy available to slow down or reverse the progression of these conditions. Several genes...

Read the complete abstract on PubMed

Topics

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

Share to Iron Metabolism Disorders
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neuroaxonal Dystrophies

Share to Syndrome

Source

Identifiers

PMID: 29409688
DOI: 10.1016/j.ejpn.2018.01.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Classification and molecular pathogenesis of NBIA syndromes.PMID 29409688Read ↗

On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.Semantic proximity Read ↗

Neurodegenerations with Brain Iron Accumulation.Semantic proximity Read ↗

Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.Semantic proximity Read ↗

Neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

NBIA Syndromes: A Step Forward from the Previous Knowledge.Semantic proximity Read ↗

Neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.Semantic proximity Read ↗

Genetics of neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.Semantic proximity Read ↗

Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.Semantic proximity Read ↗

Neurodegeneration with brain iron accumulation: update on pathogenic mechanismsSemantic proximity Read ↗

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