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

Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.

Brain : a journal of neurology - 4 Apr 2024

Iankova Vassilena, Sparber Peter, Rohani Mohammad, Dusek Petr, Büchner Boriana, Karin Ivan, Schneider Susanne A, Gorriz Juan M, Kmiec Tomasz, Klopstock Thomas

Abstract excerpt

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an ultraorphan neurogenetic disease from the group of neurodegeneration with brain iron accumulation (NBIA) disorders. Here we report cross-sectional and longitudinal data to define the phenotype, to assess disease progression and to estimate sample sizes for clinical trials. We enrolled patients with genetically confirmed MPAN from the Treat...

Read the complete abstract on PubMed

Topics

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

Share to Activities of Daily Living
Share to Cross-Sectional Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Delayed Diagnosis

Share to Dystonia

Share to Dystonic Disorders

Share to Mitochondrial Membranes

Share to Neurodegenerative Diseases

Share to Quality of Life

Source

Identifiers

PMID: 37831662
DOI: 10.1093/brain/awad357

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.PMID 37831662Read ↗

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.Semantic proximity Read ↗

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

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

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.Semantic proximity Read ↗

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

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

Neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

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

Classification and molecular pathogenesis of NBIA syndromes.Semantic proximity Read ↗

Neurodegenerations with Brain Iron Accumulation.Semantic proximity Read ↗

Neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

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

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