PuSH - Publikationsserver des Helmholtz Zentrums München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
Gnutti, B.* ; Iuso, A. ; Angelini, C.* ; Finazzi, D.*

An update and perspectives on mitochondrial membrane protein-associated neurodegeneration and C19orf12 research.

Brain Sci. 15:777 (2025)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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.
Impact Factor
Scopus SNIP
Altmetric
0.000
0.000
Tags
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern

Zusatzinfos bearbeiten
Eigene Tags bearbeiten
Privat
Eigene Anmerkung bearbeiten
Privat
Auf Publikationslisten für
Homepage nicht anzeigen
Als besondere Publikation
markieren
Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN); C19orf12; Neurodegeneration with Brain Iron Accumulation (NBIA); movement disorders; rare hereditary diseases; Brain Iron Accumulation; Tiger Sign; Mutation; Disease; Mpan; Variants; Subtype; Patient; Mri; Eye
Sprache englisch
Veröffentlichungsjahr 2025
HGF-Berichtsjahr 2025
ISSN (print) / ISBN 2076-3425
e-ISSN 2076-3425
Zeitschrift Brain Sciences
Quellenangaben Band: 15, Heft: 8, Seiten: , Artikelnummer: 777 Supplement: ,
Verlag MDPI
Verlagsort Mdpi Ag, Grosspeteranlage 5, Ch-4052 Basel, Switzerland
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
Förderungen Università degli Studi di Brescia
DOI 10.3390/brainsci15080777
WOS ID 001557860800001
PubMed ID 40867110
Erfassungsdatum 2025-07-25
[➜Korrektur melden]