List of works - Daniele Ghezzi

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction

scientific article published on 18 October 2014

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

scientific article

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 de novo dominant mutation in ISCU associated with mitochondrial myopathy

scientific article published on 27 October 2017

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

scientific article

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

scientific article

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

scientific article

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

scientific article published on 23 April 2016

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

scientific article published on 01 January 2019

ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy

scientific article published on 26 March 2020

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

scientific article published on May 2013

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

scientific article published on 03 April 2018

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

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

scientific article published on 28 September 2016

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

scientific article

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

scientific article

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

scientific article

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

scientific article published on 23 August 2016

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

scientific article

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

scientific article published on 12 March 2018

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

scientific article

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB ⬇️

scientific article

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

scientific article published on 4 September 2008

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

article

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

article

Genetic diagnosis of Mendelian disorders via RNA sequencing

scientific article published on 12 June 2017

High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease.

scientific article published in February 2005

Homozygous mutations in C1QBP as cause of Progressive External Ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

scientific article published on 11 July 2020

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

scientific article published on 17 February 2019

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

scientific article

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

scientific article

Loss of apoptosis-inducing factor critically affects MIA40 function.

scientific article

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.

scientific article published on 23 July 2012

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

scientific article

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

scientific article

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

scientific article

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

scientific article published on 11 March 2015

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

scientific article published on December 2015

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

scientific article

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

scientific article

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

scientific article

Mutations in compromise cell survival in OxPhos-dependent metabolic conditions

scientific article published on 01 October 2018

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

scientific article published on 17 May 2012

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

scientific article published on 01 January 2008

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 (ovario) leukodystrophy related to AARS2 mutations

scientific article

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

scientific article published on 26 October 2016

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

scientific article published in April 2008

POLG1 in idiopathic Parkinson disease

scientific article published on 30 August 2006

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

scientific article published on 5 January 2009

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

Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number"

scientific article published on 01 November 2020

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

scientific article

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

scientific article

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

scientific journal article

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

scientific article

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

scientific article published on 30 December 2009

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

scientific article

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

scientific article published on 22 January 2013

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

List of works by Daniele Ghezzi

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

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

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

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

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

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

ATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic Neuropathy

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

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

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

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders

Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB ⬇️

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

Genetic diagnosis of Mendelian disorders via RNA sequencing

High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease.

Homozygous mutations in C1QBP as cause of Progressive External Ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

Loss of apoptosis-inducing factor critically affects MIA40 function.

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

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

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

Mutations in compromise cell survival in OxPhos-dependent metabolic conditions

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

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

Novel (ovario) leukodystrophy related to AARS2 mutations

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

POLG1 in idiopathic Parkinson disease

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

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

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

Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number"

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

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

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies