Lista de obras - Elena Cardaioli - Dominio Público Uruguay

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

artículo científico publicado en 2010

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

artículo científico publicado el 25 de abril de 2012

Mitochondria, oxidative stress and neurodegeneration.

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Replay to: Phenotypic spectrum of POLG1 mutations.

artículo científico publicado en 2018

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

artículo científico publicado el 6 de junio de 2011

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

artículo científico publicado el 24 de agosto de 2012

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

artículo científico publicado en 2021

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

scientific article published in 2021

Lista de obras de 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

Lista de obras de 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 ⬇️