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List of works by Michela Di Nottia

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

scientific article published on 21 April 2016

Biallelic mutations in early-onset, variably progressive neurodegeneration

scientific article published on 29 June 2018

CNF1 improves astrocytic ability to support neuronal growth and differentiation in vitro.

scientific article

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

scientific article published on 09 March 2019

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

scientific article published on 27 July 2016

Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1.

scientific article

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

scientific article published on 01 October 2018

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

scientific article published on 18 June 2019

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

scientific article published on 12 May 2017

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

scientific article

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

scientific article published on 26 October 2016

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

scientific article published on 28 November 2016

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

scholarly article by Rosalba Carrozzo published in September 2014

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