about
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyExome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationIdentification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathyConstitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in miceMicroscale oxygraphy reveals OXPHOS impairment in MRC mutant cellsCavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.Clinical and molecular features of mitochondrial DNA depletion syndromes.MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiencyMutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyCommon and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyCOQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutationsA novel homozygous mutation in SUCLA2 gene identified by exome sequencing.A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 genePredicting the contribution of novel POLG mutations to human disease through analysis in yeast model.Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.Clinical and molecular findings in children with complex I deficiency.Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.Effects of riboflavin in children with complex II deficiency.Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation.SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.DYT2 screening in early-onset isolated dystonia.Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrumThiamine-responsive disease due to mutation of tpk1 : Importance of avoiding misdiagnosis
P50
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P50
description
hulumtuese
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onderzoeker
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researcher
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հետազոտող
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name
Federica Invernizzi
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Federica Invernizzi
@en
Federica Invernizzi
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Federica Invernizzi
@nl
Federica Invernizzi
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type
label
Federica Invernizzi
@ast
Federica Invernizzi
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Federica Invernizzi
@es
Federica Invernizzi
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Federica Invernizzi
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prefLabel
Federica Invernizzi
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Federica Invernizzi
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Federica Invernizzi
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Federica Invernizzi
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Federica Invernizzi
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P1053
J-9849-2016
P106
P1153
7005993006
P21
P2798
P31
P3829
P496
0000-0001-8072-0152