about
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseSOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesisGenes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA InstabilityBeta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanismsClinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case reportRNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial EncephalomyopathyA novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformationsTwo novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesOptic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsImpaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.Mitochondrial fusion proteins and human diseases.Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation.Redefining phenotypes associated with mitochondrial DNA single deletion.Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms: Experimental Neurology 2011; 229: 214-225.The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association?Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia.Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction.PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics.A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis.Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's disease.Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletionSpinal Cord Calcification in an Early-Onset Progressive LeukoencephalopathyNovel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I PhenotypePostural effects on lung and chest wall volumes in late onset type II glycogenosis patientsIncontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable ConditionClinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Dario Ronchi
@ast
Dario Ronchi
@en
Dario Ronchi
@es
Dario Ronchi
@nl
Dario Ronchi
@sl
type
label
Dario Ronchi
@ast
Dario Ronchi
@en
Dario Ronchi
@es
Dario Ronchi
@nl
Dario Ronchi
@sl
prefLabel
Dario Ronchi
@ast
Dario Ronchi
@en
Dario Ronchi
@es
Dario Ronchi
@nl
Dario Ronchi
@sl
P106
P1153
23490029100
P21
P31
P496
0000-0002-6093-9816