List of works - Andreina Bordoni

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

scientific article published on 15 September 2005

A collection of 33 novel human mtDNA homoplasmic variants

scientific article published on 01 November 2002

A de novo C19orf12 heterozygous mutation in a patient with MPAN.

scientific article published on 27 December 2017

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

scientific article published in June 2003

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

scientific article

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast

scientific article published on 4 August 2006

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

scientific article

Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis

scientific article published on 9 December 2015

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

scientific article

Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids

scientific article published on 16 September 2008

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

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

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

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin

scientific article published on 06 April 2017

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

In vivo biolistic technique in control and mdx dystrophic mice

scientific article published on 01 July 1996

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

scientific article

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

scientific article published in November 2003

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

scientific article published on 10 March 2009

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

scientific article published on 24 January 2013

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

scientific article

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy

scientific article

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

scientific article

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

scientific article published on 17 November 2003

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

scientific article

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

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

scientific article

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

scientific article published on 14 December 2012

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons

scientific article published on 9 August 2016

Skeletal muscle gene expression profiling in mitochondrial disorders.

scientific article published on 23 February 2005

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

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 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

Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

scientific article

List of works by Andreina Bordoni

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

A collection of 33 novel human mtDNA homoplasmic variants

A de novo C19orf12 heterozygous mutation in a patient with MPAN.

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

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast

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

Changes in Whole-Body Oxygen Consumption and Skeletal Muscle Mitochondria During Linezolid-Induced Lactic Acidosis

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

Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids

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

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

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

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin

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

In vivo biolistic technique in control and mdx dystrophic mice

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

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

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

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy

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

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

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

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

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

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons

Skeletal muscle gene expression profiling in mitochondrial disorders.

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

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

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

Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.