List of works - Monica Sciacco

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

scientific article published on December 2016

A collection of 33 novel human mtDNA homoplasmic variants

scientific article published on 01 November 2002

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

scientific article published in June 2003

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

scientific article

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

scientific article published in July 2009

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

scientific article published on 19 September 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

scientific article

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

scientific article

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

scientific article published on 25 March 2016

Desmin and vimentin as markers of regeneration in muscle diseases

scientific article published on January 1, 1992

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

scientific article published on 2 June 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

scientific article published in October 2002

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

scientific article

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

scientific article published on 13 June 2006

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

scientific article

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

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

scientific article published on June 2015

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

scientific article published on 29 July 2002

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

scientific article

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

scientific 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

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

scientific article published in November 2003

Mitochondrial disease heterogeneity: a prognostic challenge

scientific article published on October 2014

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

scientific article published on July 2010

Muscle coenzyme Q10 level in statin-related myopathy

scientific article

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

scientific article published on 24 January 2013

New morphological approaches to the study of mitochondrial encephalomyopathies

scientific article published on April 1, 1992

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

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

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

scientific article published on May 24, 1995

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

scientific article published in May 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

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

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

scientific article

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

scientific article

Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.

scientific article published on 10 May 2011

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 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

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

scientific article

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

scientific article published on 23 February 2011

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

scientific article published on 27 July 2011

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

scientific article published on 15 December 2019

List of works by Monica Sciacco

"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

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.

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