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

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2013

Schulte Eva C, Claussen Malte C, Jochim Angela, Haack Tobias, Hartig Monika, Hempel Maja, Prokisch Holger, Haun-Jünger Ursula, Winkelmann Juliane, Hemmer Bernhard, Förschler Annette, Ilg Rüdiger

Abstract excerpt

BACKGROUND: Recently, mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as a novel genetic factor in neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial m...

Read the complete abstract on PubMed

Topics

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

Share to Gait Disorders, Neurologic
Share to Globus Pallidus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Membrane Transport Proteins

Share to Motor Neuron Disease

Share to Movement Disorders

Share to Optic Nerve Diseases

Share to Pantothenate Kinase-Associated Neurodegeneration

Share to Substantia Nigra

Source

Identifiers

PMID: 23436634
DOI: 10.1002/mds.25256

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23436634-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.PMID 23436634Read ↗

Mitochondrial membrane protein-associated neurodegeneration (MPAN).Semantic proximity Read ↗

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.Semantic proximity Read ↗

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.Semantic proximity Read ↗

Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.Semantic proximity Read ↗

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

Mitochondrial protein associated neurodegeneration - case report.Semantic proximity Read ↗

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

Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration.Semantic proximity Read ↗

Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.Semantic proximity Read ↗

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.Semantic proximity Read ↗

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