List of works - Monica Sciacco

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

scientific article

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

scientific article published on July 2010

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

scientific article published on 24 January 2013

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

scientific article published in May 2013

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

scientific article

Clinical manifestations of mitochondria1 DNA depletion

scientific article published on June 1, 1998

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

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

scientific article published on June 2015

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

Desmin and vimentin as markers of regeneration in muscle diseases

scientific article published on January 1, 1992

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

scientific article

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

New morphological approaches to the study of mitochondrial encephalomyopathies

scientific article published on April 1, 1992

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

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

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

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

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

scientific article

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

scientific article published in October 2003

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

scientific article published in November 2003

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

scientific article

A collection of 33 novel human mtDNA homoplasmic variants

scientific article published on 01 November 2002

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

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

scientific article published on 27 July 2011

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

scientific article published on 01 November 1998

Mitochondrial disease heterogeneity: a prognostic challenge

scientific article published on October 2014

Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.

scientific article published on 10 May 2011

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

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

scientific article published on 13 June 2006

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

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

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

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

scientific article

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

scientific article

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

scientific article published on May 24, 1995

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

scientific article published on 23 February 2011

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

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

scientific article published on 29 July 2002

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

scientific article

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

scientific article

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

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

List of works by Monica Sciacco

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

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

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

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

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

Clinical manifestations of mitochondria1 DNA depletion

Muscle coenzyme Q10 level in statin-related myopathy

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

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

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

Desmin and vimentin as markers of regeneration in muscle diseases

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

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

New morphological approaches to the study of mitochondrial encephalomyopathies

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

Redefining phenotypes associated with mitochondrial DNA single deletion

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

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

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

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

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

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

A collection of 33 novel human mtDNA homoplasmic variants

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

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

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

Mitochondrial disease heterogeneity: a prognostic challenge

Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.

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

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

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

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

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

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

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

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

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

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

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

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

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

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

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.