about
Peroxisomal acyl-CoA-oxidase deficiency: two new casesMissense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegiaUnderstanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineAltered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiencyDisease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHBPyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiencyMutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathySuccinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.Infantile mitochondrial disorders.Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies.Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathyThe use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1.Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasisLYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes.Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.Disorders of nuclear-mitochondrial intergenomic signalling.Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.Involvement of the mitochondrial compartment in human NCL fibroblasts.Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.'Behr syndrome' with OPA1 compound heterozygote mutations.Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.Correlation between clinical and molecular features in two MELAS families.Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation.Glutathione in blood of patients with Friedreich's ataxia.Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial.Mutation analysis in 16 patients with mtDNA depletion.Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease.
P50
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
@hy
name
Rosalba Carrozzo
@ast
Rosalba Carrozzo
@en
Rosalba Carrozzo
@es
Rosalba Carrozzo
@nl
Rosalba Carrozzo
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type
label
Rosalba Carrozzo
@ast
Rosalba Carrozzo
@en
Rosalba Carrozzo
@es
Rosalba Carrozzo
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Rosalba Carrozzo
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altLabel
Carrozzo R
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prefLabel
Rosalba Carrozzo
@ast
Rosalba Carrozzo
@en
Rosalba Carrozzo
@es
Rosalba Carrozzo
@nl
Rosalba Carrozzo
@sl
P1053
A-2808-2014
P106
P21
P31
P3829
P496
0000-0002-3327-4054