List of works - Camilla Ceccatelli Berti - Paulina

List of works by Camilla Ceccatelli Berti

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

scientific article published on 26 May 2015

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

scientific article published on 11 May 2021

Exploring Yeast as a Study Model of Pantothenate Kinase-Associated Neurodegeneration and for the Identification of Therapeutic Compounds

scientific article published on 30 December 2020

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

scientific article published on 01 November 2019

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