List of works - Maurizio Moggio

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

scientific article

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

scientific article published on 15 September 2005

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

scientific article published in June 2003

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

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

scientific article published on 04 December 2013

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

scientific article

Banking together. A unified model of informed consent for biobanking

scientific article published on April 2008

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

scientific article published on 19 September 2017

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

scientific article

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

scientific article

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

scientific article published on 25 March 2016

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

scientific article published on 4 January 2006

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

scientific article published on 8 February 2017

Distinctive patterns of microRNA expression in primary muscular disorders

scientific article

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

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

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

scientific article

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

scientific article

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

scientific article

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

scholarly article by Serena Pagliarani published in October 2018

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

scientific article published in October 2003

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

scientific article

Immune-mediated necrotizing myopathy due to statins exposure

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy: Supplemental figures 1-3; supplemental tables 1-3

In vivo biolistic technique in control and mdx dystrophic mice

scientific article published on 01 July 1996

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

scientific article

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

scientific article published on 29 July 2002

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

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

scientific article

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

scientific article

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

article

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 July 2006

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

scientific article published on 10 March 2009

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock

scientific article

Mitochondrial disease heterogeneity: a prognostic challenge

scientific article published on October 2014

Muscle coenzyme Q10 level in statin-related myopathy

scientific article

Muscular dystrophies: histology, immunohistochemistry, molecular genetics and management

scientific article published on January 2010

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation

scientific article published on 25 July 2009

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

scientific article

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

scientific article published on 24 January 2013

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

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

scientific article published on June 2012

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

scientific article

Novel CLN3 mutation causing autophagic vacuolar myopathy

scientific article

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

scientific article

Nutritional Challenges in Duchenne Muscular Dystrophy

scientific article

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

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

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

scientific article published in May 2013

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease

scientific article

Prevalence of congenital muscular dystrophy in Italy: a population study

scientific article

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

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

scientific article

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

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

scientific article published on 08 August 2016

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions

scientific article published on 8 December 2017

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

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

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

scientific article

Stormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the Literature

article

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

scientific article published on 30 August 2013

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

scientific article

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

scientific article

The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment

scientific article published on 18 February 2010

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

scientific article

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

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

scientific article published on 21 December 2011

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

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

scientific article published on 23 February 2011

List of works by Maurizio Moggio

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

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

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

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

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

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

Banking together. A unified model of informed consent for biobanking

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

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

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

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

Distinctive patterns of microRNA expression in primary muscular disorders

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

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

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

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

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

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

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

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

Immune-mediated necrotizing myopathy due to statins exposure

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy: Supplemental figures 1-3; supplemental tables 1-3

In vivo biolistic technique in control and mdx dystrophic mice

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

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

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

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

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

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

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

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

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

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

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock

Mitochondrial disease heterogeneity: a prognostic challenge

Muscle coenzyme Q10 level in statin-related myopathy

Muscular dystrophies: histology, immunohistochemistry, molecular genetics and management

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation

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

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

Myoclonus in mitochondrial disorders

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

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

Novel CLN3 mutation causing autophagic vacuolar myopathy

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

Nutritional Challenges in Duchenne Muscular Dystrophy

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

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

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

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease

Prevalence of congenital muscular dystrophy in Italy: a population study

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1

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

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

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

Redefining phenotypes associated with mitochondrial DNA single deletion

Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions

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

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

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

Stormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the Literature

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

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

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

The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment

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

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

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

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

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation