List of works - Elena Cardaioli

A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 12 June 2011

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

scientific article published on 5 July 2007

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

scientific article

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

scientific article published on 16 March 2010

Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up ⬇️

scientific article published on April 25, 2012

Mitochondria, oxidative stress and neurodegeneration.

scientific article published on 04 June 2012

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

scientific article published on 4 February 2016

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

scientific article published on 3 April 2018

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

scientific article

Replay to: Phenotypic spectrum of POLG1 mutations.

scientific article

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation ⬇️

scientific article published on June 6, 2011

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation ⬇️

scientific article published on August 24, 2012

The complete mitochondrial genome of Trissolcus japonicus (Hymenoptera: Scelionidae), the candidate for the biological control of Halyomorpha halys (Hemiptera: Pentatomidae)

scientific article published in 2021

The mitogenome of the true bug Nysius cymoides (Insecta, Heteroptera) and the phylogeny of Lygaeoidea

scientific article published in 2021

List of works by Elena Cardaioli

A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

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

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up ⬇️

Mitochondria, oxidative stress and neurodegeneration.

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

Replay to: Phenotypic spectrum of POLG1 mutations.

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation ⬇️

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation ⬇️

The complete mitochondrial genome of <i>Trissolcus japonicus</i> (Hymenoptera: Scelionidae), the candidate for the biological control of <i>Halyomorpha halys</i> (Hemiptera: Pentatomidae)

The mitogenome of the true bug <i>Nysius cymoides</i> (Insecta, Heteroptera) and the phylogeny of Lygaeoidea

List of works by Elena Cardaioli

A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

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

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up ⬇️

Mitochondria, oxidative stress and neurodegeneration.

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

Replay to: Phenotypic spectrum of POLG1 mutations.

Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation ⬇️

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T&gt;C MTTK mutation ⬇️

The complete mitochondrial genome of <i>Trissolcus japonicus</i> (Hymenoptera: Scelionidae), the candidate for the biological control of <i>Halyomorpha halys</i> (Hemiptera: Pentatomidae)

The mitogenome of the true bug <i>Nysius cymoides</i> (Insecta, Heteroptera) and the phylogeny of Lygaeoidea

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation ⬇️