Startseite
English
Erweiterte Suche
Durchblättern nach ...
Publikationen im Überblick
Ansprechpartner
Hilfe
Verlagsversion
DOI
PMC
 |
Open Access Gold |
|
möglich sobald bei der ZB eingereicht worden ist.
An update and perspectives on mitochondrial membrane protein-associated neurodegeneration and C19orf12 research.
Brain Sci. 15:777 (2025)
Mitochondrial Membrane Protein-Associated Neurodegeneration is a rare
monogenic form of neurodegeneration characterized by iron accumulation
in the brain. It is due to variants in the orphan gene C19orf12.
Since its definition in 2011, many scientific groups have investigated
the clinical features and molecular underpinnings of the disorder. In
this review, we summarize the main points of progress in this field,
trying to highlight the issues that need further attention and efforts
to speed up the diagnostic path, improve the existing treatment options,
and define targeted therapies.
Altmetric
Weitere Metriken?
Zusatzinfos bearbeiten
[➜Einloggen]
Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Review
Schlagwörter
Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN); C19orf12; Neurodegeneration with Brain Iron Accumulation (NBIA); movement disorders; rare hereditary diseases
ISSN (print) / ISBN
2076-3425
e-ISSN
2076-3425
Zeitschrift
Brain Sciences
Quellenangaben
Band: 15,
Heft: 8,
Artikelnummer: 777
Verlag
MDPI
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
Förderungen
Università degli Studi di Brescia