List of works - Dario Ronchi

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations

scientific article

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

scientific article published on 10 January 2015

Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction

scientific article

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms

scientific article

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms: Experimental Neurology 2011; 229: 214-225.

scientific article published on October 2011

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

scientific article published on 8 January 2015

Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis

scientific article published on 9 December 2015

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

scientific article published on 31 May 2016

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

scientific article

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

scientific article published in February 2008

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

scientific article published on 24 April 2020

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.

scientific article

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation

scientific article published in 2022

Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability

scientific article

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

scientific article published on 24 September 2015

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

scientific article published on June 2015

Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition

scientific article published in 2012

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

scientific article published on 13 July 2020

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

scientific article

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

scientific article published on 07 May 2014

Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's disease.

scientific article

Mitochondrial fusion proteins and human diseases.

scientific article published on 27 May 2013

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

scientific article published on July 2010

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

scientific article

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

scientific article

Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

scientific article published on 9 January 2015

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

scientific article published on 30 June 2008

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

scientific article published on 22 December 2011

PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics

scientific article published on 10 October 2012

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients

scientific article published in May 2013

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

scientific article

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

scientific article published on 14 December 2012

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis

scientific article

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.

scientific article

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

scientific article published on 22 March 2011

Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association?

scientific article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

scientific article

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

scientific article published on 27 July 2011

List of works by Dario Ronchi

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms: Experimental Neurology 2011; 229: 214-225.

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation

Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's disease.

Mitochondrial fusion proteins and human diseases.

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients

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

Redefining phenotypes associated with mitochondrial DNA single deletion

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association?

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.