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Fingerprint Dive into the research topics where Claudia Nesti is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 20 Similar Profiles
Mutation Medicine & Life Sciences
Mitochondrial Diseases Medicine & Life Sciences
Mitochondrial DNA Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Electron Transport Medicine & Life Sciences
Genes Medicine & Life Sciences
Neuroimaging Medicine & Life Sciences
Muscles Medicine & Life Sciences

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Research Output 1999 2019

Clinical and molecular studies in two new cases of ARSACS

Ricca, I., Morani, F., Bacci, G. M., Nesti, C., Caputo, R., Tessa, A. & Santorelli, F. M., Mar 2 2019, In : Neurogenetics. 20, 1, p. 45-49 5 p.

Research output: Contribution to journalArticle

Genetic Testing
Genetic Association Studies
Missense Mutation
Ataxia
Computational Biology

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

Tolomeo, D., Rubegni, A., Severino, M., Pochiero, F., Bruno, C., Cassandrini, D., Madeo, A., Doccini, S., Pedemonte, M., Rossi, A., D'Amore, F., Donati, M. A., Di Rocco, M., Santorelli, F. M. & Nesti, C., Apr 15 2019, In : Journal of the Neurological Sciences. 399, p. 69-75 7 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Neuroimaging
Phenotype
Mutation
Electron Transport

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation

Nesti, C., Rubegni, A., Tolomeo, D., Baldacci, J., Cassandrini, D., D’Amore, F. & Santorelli, F. M., Aug 1 2019, In : Neurological Sciences. 40, 8, p. 1705-1708 4 p.

Research output: Contribution to journalArticle

Transfer RNA
Mitochondrial DNA
Phenotype
Mutation
Mitochondrial Diseases

Intrafamilial “DOA-plus” phenotype variability related to different OMI/HTRA2 expression

Napolitano, F., Terracciano, C., Bruno, G., Nesti, C., Barillari, M. R., Barillari, U., Santorelli, F. M., Melone, M. A. B., Esposito, T. & Sampaolo, S., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Autosomal Dominant Optic Atrophy
Chronic Progressive External Ophthalmoplegia
Modifier Genes
Phenotype
Mutation

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Scala, M., Brigati, G., Fiorillo, C., Nesti, C., Rubegni, A., Pedemonte, M., Bruno, C., Severino, M., Derchi, M., Minetti, C. & Santorelli, F. M., Aug 7 2019, In : Neurogenetics. 20, 3, p. 165-172 8 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Sensorineural Hearing Loss
Leigh Disease
Brain Diseases
Electron Transport