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List of works by Claudia Nesti

A Child With Ichthyosis and Liver Failure.

scientific article

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

scientific article published on 20 March 2014

A novel heteroplasmic tRNA Ser(UCN) mtDNA point mutation associated with progressive ophthalmoplegia and dysphagia

scientific article published in March 2010

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.

scientific article published on 27 February 2016

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy

scientific article published on 3 March 2015

Anti-CD38 autoimmunity in patients with chronic autoimmune thyroiditis or Graves' disease

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders

scientific article

Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis

scientific article

Autoimmunity to CD38 and GAD in Type I and Type II diabetes: CD38 and HLA genotypes and clinical phenotypes

article by A. Antonelli et al published 24 July 2002 in Diabetologia

Boron nitride nanotubes and primary human osteoblasts: in vitro compatibility and biological interactions under low frequency ultrasound stimulation.

scientific article published on 22 October 2013

Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene

scientific article published in April 2009

Cerium oxide nanoparticles: the regenerative redox machine in bioenergetic imbalance

scientific article published on 21 December 2016

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

scientific article published on 30 November 2012

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation

scientific article published on 01 April 2019

Concentric muscle involvement in POLG -related distal myopathy

scientific article published on 07 March 2017

Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker.

scientific article published on December 2009

Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation

scientific article

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation

scientific article

Evidence for nuclear modifier gene in mitochondrial cardiomyopathy

scientific article published on 21 February 2009

Human dental pulp stem cells protect mouse dopaminergic neurons against MPP+ or rotenone

scientific article published on 18 September 2010

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.

scientific article published on 25 September 2013

Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany

scientific article published on 30 June 2007

Large deletion mutation of SPAST in a multi-generation family from Sardinia

scientific article published on 4 November 2013

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

scientific article published on 15 April 2017

MERRF syndrome without ragged-red fibers: the need for molecular diagnosis

scientific article published on 26 January 2007

Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype

scientific article published on 8 August 2008

Mitochondrial syndromic sensorineural hearing loss

scientific article published in June 2007

Morpho-functional characterization of human mesenchymal stem cells from umbilical cord blood for potential uses in regenerative medicine

scientific article

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay

article published in 2011

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

scientific article published on 3 April 2018

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

New findings in the ataxia of Charlevoix-Saguenay

scientific article published on 13 October 2011

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

scientific article published on 28 March 2013

Novel cell lines derived from adult human ventricular cardiomyocytes

scientific article

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

scientific article published on 02 July 2019

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.

scientific article published on 3 May 2017

NovelMTCYBmutation in a young patient with recurrent stroke-like episodes and status epilepticus

scientific article published on 14 August 2014

Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation

scientific article published on 4 December 2009

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

scientific article published on 8 May 2012

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article published on 3 November 2015

Processing large-diameter poly(L-lactic acid) microfiber mesh/mesenchymal stromal cell constructs via resin embedding: an efficient histologic method

scientific article published on 16 July 2014

Relapsing-Remitting Course of Cystic Leukoencephalopathy

Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1".

scientific article

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

scientific article published on 30 August 2018

Role of Neck Ultrasonography in the Follow-Up of Children Operated on for Thyroid Papillary Cancer

scientific article published on 01 May 2003

Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings

scientific article published on 07 February 2017

Studies of COX16, COX19, and PET191 in Human Cytochrome-c Oxidase Deficiency

scientific article published on 01 December 2004

Syndromes associated with mitochondrial DNA depletion.

scientific article published on 03 April 2014

TRPV4 mutations in children with congenital distal spinal muscular atrophy

scientific article

Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

scientific article published on 01 January 2019

The features of the m.10197G>A mtDNA mutation

scientific article published on 04 April 2019

The mtDNA A8344G “MERRF” mutation is not a common cause of sporadic Parkinson disease in Italian population

article

The role of mitochondria in stem cell biology

scientific article published on June 2007

Thyroid disorders in chronic hepatitis C.

scientific article

Thyroid involvement in patients with overt HCV-related mixed cryoglobulinaemia.

scientific article

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