Redefining phenotypes associated with mitochondrial DNA single deletion

Michelangelo Mancuso, Daniele Orsucci, C. Angelini, +31

Journal of Neurology

BiologyMitochondrial FunctionNatural SciencesGeneticsDna Replication +2

A Novel NOTCH3 Frameshift Deletion and Mitochondrial Abnormalities in a Patient With CADASIL

Maria Teresa Dotti, Nicola De Stefano, Silvia Bianchi, +4

Archives of Neurology

Studies on the biological effects of ozone: 4. Cytokine production and glutathione levels in human erythrocytes.

Velio Bocci, Enrico Luzzi, F. Corradeschi, +4

PubMed

Ozone FluxTransient ExposureRedox BiologyOxidative StressInflammation +16

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

G Fabrizi, Elena Cardaioli, G.S. Grieco, +6

Journal of Neurology Neurosurgery & Psychiatry

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy.

Gian Nicola Gallus, Elena Cardaioli, Alessandra Rufa, +6

PubMed

Glutathione, glutathione utilizing enzymes and thioltransferase in platelets of insulin‐dependent diabetic patients: relation with platelet aggregation and with microangiopatic complications

Paolo Di Simplicio, Lamberto A. De Giorgio, Elena Cardaioli, +6

European Journal of Clinical Investigation

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family

Carlo Casali, G Fabrizi, Filippo M. Santorelli, +11

Neurology

GeneticsProgressive Gait AtaxiaGenetic EpidemiologyPathologyMolecular Genetics +22

A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

Paola Da Pozzo, Elena Cardaioli, Edoardo Malfatti, +7

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderRetinitis PigmentosaGeneticsLate-onset Ataxia +7

A second MNGIE patient without typical mitochondrial skeletal muscle involvement

Elena Cardaioli, Paola Da Pozzo, Edoardo Malfatti, +9

Neurological Sciences

Mitochondrial MyopathyKinesiologyMuscle InjuryMitochondrial FunctionSkeletal Muscle +7

Four novel CYP27A1 mutations in seven Italian patients with CTX

Gian Nicola Gallus, Maria Teresa Dotti, Andrea Mignarri, +4

European Journal of Neurology