List of works - Carla Giordano

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

scientific article published in May 2003

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure

scientific article

Afferent nerve ending density in the human laryngeal mucosa: potential implications on endoscopic evaluation of laryngeal sensitivity

scientific article

Anti-aminoacyl-tRNA synthetase-related myositis and dermatomyositis: clues for differential diagnosis on muscle biopsy.

scientific article published on 16 November 2017

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

scientific article

Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.

scientific article

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

scientific article published on 18 January 2018

Coronary atherosclerosis and sudden cardiac death in the young: another face of the culprit, another way of striking?

scientific article published on 01 August 2018

Does the epidermal nerve fibre density measured by skin biopsy in patients with peripheral neuropathies correlate with neuropathic pain?

scientific article published on 31 January 2014

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

scientific article

Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

scientific article

Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

scientific article published on March 2009

Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion

scientific article

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

scientific article published on 13 April 2015

Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies

scientific article published on 17 September 2007

Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations

scientific article published in September 2010

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

scientific article published on 26 September 2011

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine

scientific article

Mitochondrial tRNA mutations manifest not only as hypertrophic cardiomyopathy but also as noncompaction--reply

scientific article published on 08 May 2014

Monoamine Oxidase Is Overactivated in Left and Right Ventricles from Ischemic Hearts: An Intriguing Therapeutic Target

scientific article published on December 2016

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

scientific article published on 22 October 2011

Myopathy complicating lupus pregnancy.

scientific article published on April 2013

NADPH oxidase-dependent redox signaling in human heart failure: Relationship between the left and right ventricle

scientific article published in April 2007

Neuromuscular magnetic stimulation counteracts muscle decline in ALS patients: results of a randomized, double-blind, controlled study

scientific article published on 26 February 2019

New insight into the mechanisms of ectopic fat deposition improvement after bariatric surgery

scientific article published on 21 November 2019

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

article

Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

scientific article

Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number

scientific article published on 9 May 2013

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

scientific article published on 06 December 2013

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

scientific journal article

Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.

scientific article

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

scientific article

Pathologic evidence of arrhythmogenic cardiomyopathy and myocarditis in two siblings

scientific article published on 01 January 1998

Peculiarities of prevalence and morphology of congenital heart disease detected in utero

scientific article published on 01 September 1998

Publisher Correction: New insight into the mechanisms of ectopic fat deposition improvement after bariatric surgery

scientific article published on 12 February 2020

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

Severe early onset ethylmalonic encephalopathy with West syndrome

scientific article published on 21 July 2015

Small-fibre neuropathy related to bulbar and spinal-onset in patients with ALS

scientific article published on 17 February 2015

Sudden cardiac death in younger adults: autopsy diagnosis as a tool for preventive medicine

scientific article published on 05 June 2006

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

scientific article published on 10 January 2014

The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof

scientific article published on 23 March 2015

List of works by Carla Giordano

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure

Afferent nerve ending density in the human laryngeal mucosa: potential implications on endoscopic evaluation of laryngeal sensitivity

Anti-aminoacyl-tRNA synthetase-related myositis and dermatomyositis: clues for differential diagnosis on muscle biopsy.

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

Coronary atherosclerosis and sudden cardiac death in the young: another face of the culprit, another way of striking?

Does the epidermal nerve fibre density measured by skin biopsy in patients with peripheral neuropathies correlate with neuropathic pain?

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies

Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine

Mitochondrial tRNA mutations manifest not only as hypertrophic cardiomyopathy but also as noncompaction--reply

Monoamine Oxidase Is Overactivated in Left and Right Ventricles from Ischemic Hearts: An Intriguing Therapeutic Target

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

Myopathy complicating lupus pregnancy.

NADPH oxidase-dependent redox signaling in human heart failure: Relationship between the left and right ventricle

Neuromuscular magnetic stimulation counteracts muscle decline in ALS patients: results of a randomized, double-blind, controlled study

New insight into the mechanisms of ectopic fat deposition improvement after bariatric surgery

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement

Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

Pathologic evidence of arrhythmogenic cardiomyopathy and myocarditis in two siblings

Peculiarities of prevalence and morphology of congenital heart disease detected in utero

Publisher Correction: New insight into the mechanisms of ectopic fat deposition improvement after bariatric surgery

Revisiting the issue of mitochondrial DNA content in optic mitochondriopathies

Severe early onset ethylmalonic encephalopathy with West syndrome

Small-fibre neuropathy related to bulbar and spinal-onset in patients with ALS

Sudden cardiac death in younger adults: autopsy diagnosis as a tool for preventive medicine

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof