Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
about
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseMitochondrial disorders in children: toward development of small-molecule treatment strategiesMitochondrial geneticsSengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsMTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesA Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathyDeficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3The Growing Importance of CNVs: New Insights for Detection and Clinical InterpretationNAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodDeficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.Accessory subunits are integral for assembly and function of human mitochondrial complex I.Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTNovel (ovario) leukodystrophy related to AARS2 mutationsMutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferaseCommon and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyA truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.MitProNet: A knowledgebase and analysis platform of proteome, interactome and diseases for mammalian mitochondriaAn N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.Targeted exome sequencing of suspected mitochondrial disorders.Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeA recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.The genetics and pathology of mitochondrial disease.An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.Syndromes associated with mitochondrial DNA depletion.Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.Mutations causing mitochondrial disease: What is new and what challenges remain?NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Mitochondrial Mutations in Cardiac Disorders.Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function.VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines.
P2860
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P2860
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
@ast
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
@en
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
@nl
type
label
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
@ast
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
@en
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
@nl
prefLabel
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
@ast
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
@en
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
@nl
P2093
P50
P3181
P1476
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
@en
P2093
Arcangela Iuso
Barbara Plecko
Birgit Haberberger
Ekkehard Wilichowski
Elisabeth Graf
Eva-Maria Frisch
Georg F Hoffmann
Julia B Hennermann
Klaus A Kuhn
Markus Schuelke
P304
P3181
P356
10.1136/JMEDGENET-2012-100846
P407
P50
P577
2012-04-01T00:00:00Z