Alessia Nasca

opleiding gevolgd aan: University of Milan Bicocca

beroep: onderzoeker

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Artikels 15

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2020-09-24

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I

Alessia Nasca, Daniele Ghezzi, Robert W Taylor
2017-07-14

Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo

Alessia Nasca, Brandi L Cantarel
2017-05-23

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

Alessia Nasca, Rita Selvatici, Rachele Rossi, Marika Pane, Eugenio Mercuri, Daniele Ghezzi
2017-05-12

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Michela Di Nottia, Andrea Legati, Alessia Nasca, Andrea Ciolfi, Chiara Aiello, Daniele Ghezzi, Enrico Bertini, Eleonora Lamantea, Costanza Lamperti, Isabella Moroni, Giancarlo Iarossi, Marcello Niceta, Teresa Rizza, Anna Ardissone, Rosalba Carrozzo
2017-11-27

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Alessia Nasca, Dominique Bonneau, P Reynier, Holger Prokisch, Andrea Legati, Josseline Kaplan, Michael Simpson, Eleonora Lamantea, Vincent Procaccio, Isabella Moroni, Robert W Taylor, Majida Charif, Guy Lenaers, Patrizia Amati-Bonneau
2016-03-08

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Valeria Tiranti, Alessia Nasca, Anna Ardissone, Andrea Legati, Federica Invernizzi, Eleonora Lamantea, Daniele Ghezzi, Barbara Garavaglia, Massimo Zeviani, Costanza Lamperti, Isabella Moroni
2016-06-22

Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy

Alessia Nasca, Andrea Legati, Enrico Baruffini, Paola Goffrini, Daniele Ghezzi, Isabella Moroni
2015-06-18

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Alessia Nasca, Dario Ronchi, Eleonora Lamantea, Daniele Ghezzi, Massimo Zeviani, Costanza Lamperti, Gigliola Fagiolari, Maurizio Moggio
2015-07-15

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

Alessia Nasca, Giulia Tozzi, Federica Invernizzi, Daria Diodato, Giorgio Tasca, Fiorella Piemonte, Rosalba Carrozzo, Adele D'Amico, Daniele Ghezzi, C Dionisi-Vici, Enrico Bertini, Diego Martinelli, Teresa Rizza, Daniela Verrigni
2015-12-01

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

Alessia Nasca, Anna Ardissone, Federica Invernizzi, Daniele Ghezzi, Isabella Moroni
2015-04-14

A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

Daniele Ghezzi, Alessia Nasca, Massimo Zeviani, Costanza Lamperti
2014-11-14

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

Alessia Nasca, Daniele Ghezzi
2014-06-24

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

Thomas Meitinger, Alessia Nasca, Cristina Dallabona, Christopher A Powell, Enrico Baruffini, Daria Diodato, Michal Minczuk, Claudia Donnini, Eleonora Lamantea, Daniele Ghezzi, Tiziana Granata, Holger Prokisch, Massimo Zeviani, Costanza Lamperti, Tobias B Haack, Tim M Strom, Laura Melchionda
2014-01-10

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

Carla Giordano, Arianna Montanari, Antonio F Campese, Daniele Ghezzi, Alessia Nasca, Patrizio Di Micco, Gianni Colotti, Silvia Francisci, Veronica Morea, Robert W Taylor
2014-08-22

Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia.

Alessia Nasca, Marco Muzi-Falconi, Stefano Goldwurm, Barbara Garavaglia, Chiara Reale, Roberto Cilia, Gianni Pezzoli

Human - wd:Q42408457

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