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List of works by Arcangela Iuso

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

scientific article

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

scientific article published on 17 August 2016

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

scientific article published on 19 January 2016

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

article

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

scientific article

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

scientific article

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration

scientific article

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

scientific article

Mitochondrial respiratory dysfunction in familiar parkinsonism associated with PINK1 mutation.

scientific article published on 13 May 2008

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

scientific article

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

article

Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases

scientific article published on 10 January 2009

cAMP controls oxygen metabolism in mammalian cells

scientific article

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