List of works - Maurizio Moggio

Distinctive patterns of microRNA expression in primary muscular disorders

scientific article

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

scientific article

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

scientific article

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

scientific article

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

scientific article published on 24 January 2013

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

scientific article published on 30 April 2009

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

scientific article published in May 2013

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

scientific article

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

scientific article

Muscle coenzyme Q10 level in statin-related myopathy

scientific article

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

scientific article

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013

Banking together. A unified model of informed consent for biobanking

scientific article published on April 2008

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

scientific article

Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.

scientific article

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

scientific article published on February 2014

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

scientific article

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

scientific article

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

scientific article published on 06 December 2013

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

scientific article published in June 2003

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

scientific article

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

scientific article

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

scientific article published on 01 July 2006

New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy

scientific article published on June 2012

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

scientific article published on 22 January 2007

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

scientific article

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

scientific article

Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease

scientific article

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

scientific article

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

scientific article

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

scientific article published in December 2016

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

scientific article

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

scientific article published on 08 August 2016

High mutational burden in the mtDNA control region from aged muscles: a single-fiber study

scientific article published in October 2003

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

scientific article

Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)

scientific article published on 04 December 2013

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study

scientific article published on 10 March 2009

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

scholarly article by Gabriele Civiletto et al published 11 October 2018 in EMBO Molecular Medicine

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature

scientific article published on 25 October 2013

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study

scientific article

Novel CLN3 mutation causing autophagic vacuolar myopathy

scientific article

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

scientific article published on 30 August 2013

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

scientific article published on 15 September 2005

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

scientific article published on 19 September 2017

Nutritional Challenges in Duchenne Muscular Dystrophy

scientific article

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease

scientific article

Mitochondrial disease heterogeneity: a prognostic challenge

scientific article published on October 2014

List of works by Maurizio Moggio

Distinctive patterns of microRNA expression in primary muscular disorders

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

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

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

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

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

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

Muscle coenzyme Q10 level in statin-related myopathy

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

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Banking together. A unified model of informed consent for biobanking

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

Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

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

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy

Redefining phenotypes associated with mitochondrial DNA single deletion

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

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

Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease

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

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

High mutational burden in the mtDNA control region from aged muscles: a single-fiber study

Myoclonus in mitochondrial disorders

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1)

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

Prevalence of congenital muscular dystrophy in Italy: a population study

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study

Novel CLN3 mutation causing autophagic vacuolar myopathy

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Nutritional Challenges in Duchenne Muscular Dystrophy

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease

Mitochondrial disease heterogeneity: a prognostic challenge