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List of works by Alessia Nasca

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

scientific article published on 14 April 2015

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

scientific article published on 15 July 2015

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

scientific article

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

scientific article published on 24 September 2020

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

scientific article published on 22 June 2016

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

scientific article

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

scientific article published on December 2015

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

scientific article published on 27 November 2017

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

scientific article published on 8 March 2016

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

scientific article published on 12 May 2017

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

scientific article published on 22 August 2014

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

scientific article

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

scientific article published on 23 May 2017

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

scientific article published on 10 January 2014

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 2014

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