📣 Help Shape the Future of UKRI's Gateway to Research (GtR)

We're improving UKRI's Gateway to Research and are seeking your input! If you would be interested in being interviewed about the improvements we're making and to have your say about how we can make GtR more user-friendly, impactful, and effective for the Research and Innovation community, please email gateway@ukri.org.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome. (2024)

First Author: Falabella M

Attributed to: Pleiotropic disorders of mitochondrial translation funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1093/brain/awae268

PubMed Identifier: 39279645

Publication URI: http://europepmc.org/abstract/MED/39279645

Type: Journal Article/Review

Parent Publication: Brain : a journal of neurology

ISSN: 0006-8950