Lista de obras -

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Banking together. A unified model of informed consent for biobanking

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

artículo científico publicado en 2011

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

artículo científico publicado en 2016

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

artículo científico publicado en 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].

artículo científico publicado en 2017

Distinctive patterns of microRNA expression in primary muscular disorders

artículo científico publicado en 2007

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

artículo científico

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

artículo científico publicado en 2006

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 1996

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

artículo científico publicado en 2011

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Mitochondrial disease heterogeneity: a prognostic challenge

artículo científico publicado en 2014

Muscle coenzyme Q10 level in statin-related myopathy

artículo científico publicado en 2005

Muscular dystrophies: histology, immunohistochemistry, molecular genetics and management

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

artículo científico publicado en 2013

Myoclonus in mitochondrial disorders

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Novel CLN3 mutation causing autophagic vacuolar myopathy

artículo científico publicado en 2014

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

artículo científico publicado en 2003

Nutritional Challenges in Duchenne Muscular Dystrophy

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease

artículo científico publicado en 2014

Prevalence of congenital muscular dystrophy in Italy: a population study

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Redefining phenotypes associated with mitochondrial DNA single deletion

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2002

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2011

Lista de obras de

"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