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 case report with the peculiar concomitance of 2 different genetic syndromes.

artículo científico publicado en 2016

A collection of 33 novel human mtDNA homoplasmic variants

artículo científico publicado en 2002

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

artículo científico publicado en 2003

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.

artículo científico publicado en 2015

Aphasic and visual aura with increased vasogenic leakage: an atypical migrainosus status.

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature

scientific article published on 31 January 2019

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

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

artículo científico publicado en 2011

Clinical manifestations of mitochondria1 DNA depletion ⬇️

artículo científico publicado el 1 de junio de 1998

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

artículo científico publicado en 2016

Desmin and vimentin as markers of regeneration in muscle diseases

artículo científico publicado el 1 de enero de 1992

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

artículo científico publicado en 2017

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients

artículo científico publicado en 2002

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

Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado en 2014

Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature

artículo científico publicado en 2013

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

Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion

artículo científico publicado en 2003

Mitochondrial disease heterogeneity: a prognostic challenge

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Muscle coenzyme Q10 level in statin-related myopathy

artículo científico publicado en 2005

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

artículo científico publicado en 2013

New morphological approaches to the study of mitochondrial encephalomyopathies

artículo científico publicado el 1 de abril de 1992

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

artículo científico publicado en 2012

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

Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients ⬇️

artículo científico publicado el 24 de mayo de 1995

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

artículo científico publicado en 2013

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

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

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

artículo científico publicado en 2017

Schizophreniform disorder with cerebrospinal fluid PCR positivity for herpes simplex virus type 1.

artículo científico publicado en 2003

Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.

artículo científico publicado en 2011

Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction ⬇️

artículo científico publicado el 1 de noviembre de 1998

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 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

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

artículo científico publicado en 2011

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

artículo científico publicado en 2011

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

artículo científico

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy

scientific article published on 15 December 2019

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 case report with the peculiar concomitance of 2 different genetic syndromes.

A collection of 33 novel human mtDNA homoplasmic variants

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

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.

Aphasic and visual aura with increased vasogenic leakage: an atypical migrainosus status.

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

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature

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

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

Clinical manifestations of mitochondria1 DNA depletion ⬇️

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

Desmin and vimentin as markers of regeneration in muscle diseases

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients

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

Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.

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

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

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

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

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

Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature

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

Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion

Mitochondrial disease heterogeneity: a prognostic challenge

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

Muscle coenzyme Q10 level in statin-related myopathy

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

New morphological approaches to the study of mitochondrial encephalomyopathies

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

Nutritional Challenges in Duchenne Muscular Dystrophy

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

Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients ⬇️

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

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

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.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Schizophreniform disorder with cerebrospinal fluid PCR positivity for herpes simplex virus type 1.

Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.

Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction ⬇️

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 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

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

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

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

Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy