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AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failurePantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse modelGastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletionMitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction.Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.Monoamine Oxidase Is Overactivated in Left and Right Ventricles from Ischemic Hearts: An Intriguing Therapeutic Target.Severe early onset ethylmalonic encephalopathy with West syndrome.The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof.Myopathy complicating lupus pregnancy.The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cellsHomozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number.Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies.Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.Anti-aminoacyl-tRNA synthetase-related myositis and dermatomyositis: clues for differential diagnosis on muscle biopsy.Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.Afferent nerve ending density in the human laryngeal mucosa: potential implications on endoscopic evaluation of laryngeal sensitivity.Revisiting the issue of mitochondrial DNA content in optic mitochondriopathiesSmall-fibre neuropathy related to bulbar and spinal-onset in patients with ALSNADPH oxidase-dependent redox signaling in human heart failure: Relationship between the left and right ventricleNovel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacementNeuromuscular magnetic stimulation counteracts muscle decline in ALS patients: results of a randomized, double-blind, controlled studySudden cardiac death in younger adults: autopsy diagnosis as a tool for preventive medicinePeculiarities of prevalence and morphology of congenital heart disease detected in uteroDoes the epidermal nerve fibre density measured by skin biopsy in patients with peripheral neuropathies correlate with neuropathic pain?Pathologic evidence of arrhythmogenic cardiomyopathy and myocarditis in two siblingsMitochondrial tRNA mutations manifest not only as hypertrophic cardiomyopathy but also as noncompaction--replyCoronary atherosclerosis and sudden cardiac death in the young: another face of the culprit, another way of striking?Publisher Correction: New insight into the mechanisms of ectopic fat deposition improvement after bariatric surgeryNew insight into the mechanisms of ectopic fat deposition improvement after bariatric surgery
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P50
description
Italiaans onderzoekster
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researcher ORCID: 0000-0002-3716-4303
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name
Carla Giordano
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Carla Giordano
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Carla Giordano
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Carla Giordano
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Carla Giordano
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Carla Giordano
@nl
Carla Giordano
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type
label
Carla Giordano
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Carla Giordano
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Carla Giordano
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Carla Giordano
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Carla Giordano
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Carla Giordano
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Carla Giordano
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prefLabel
Carla Giordano
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Carla Giordano
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Carla Giordano
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Carla Giordano
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Carla Giordano
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Carla Giordano
@nl
Carla Giordano
@sl
P106
P1153
55458149000
P21
P27
P31
P496
0000-0002-3716-4303