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Leader 00000nz a2200037n 45 0
001 WKP|Q37843434 (VIAF cluster) (Authority/Source Record)
003 WKP
005 20241120235754.0
008 241120nneanz||abbn n and d
035 ‎‡a (WKP)Q37843434‏
024 ‎‡a 0000-0001-6970-336X‏ ‎‡2 orcid‏
035 ‎‡a (OCoLC)Q37843434‏
100 0 ‎‡a Johannes A Mayr‏ ‎‡c investigador‏ ‎‡9 ast‏
375 ‎‡a 1‏ ‎‡2 iso5218‏
400 0 ‎‡a Johannes A Mayr‏ ‎‡c researcher‏ ‎‡9 en‏
400 0 ‎‡a Johannes A Mayr‏ ‎‡c investigador‏ ‎‡9 es‏
400 0 ‎‡a Johannes A. Mayr‏ ‎‡c ricercatore‏ ‎‡9 it‏
400 0 ‎‡a Johannes A Mayr‏ ‎‡c wetenschapper‏ ‎‡9 nl‏
670 ‎‡a Author's A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency‏
670 ‎‡a Author's A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era‏
670 ‎‡a Author's A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.‏
670 ‎‡a Author's A novel sporadic mutation G14739A of the mitochondrial tRNA‏
670 ‎‡a Author's A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.‏
670 ‎‡a Author's Acute flaccid paralysis as initial symptom in 4 patients with novel E1 Alpha mutations of the pyruvate dehydrogenase complex‏
670 ‎‡a Author's Age-Related Deterioration of Mitochondrial Function in the Intestine‏
670 ‎‡a Author's Alterations of oxidative phosphorylation complexes in astrocytomas.‏
670 ‎‡a Author's Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors‏
670 ‎‡a Author's Alterations of respiratory chain complexes in sporadic pheochromocytoma‏
670 ‎‡a Author's Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq‏
670 ‎‡a Author's Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?‏
670 ‎‡a Author's Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency‏
670 ‎‡a Author's Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies‏
670 ‎‡a Author's Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy‏
670 ‎‡a Author's Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder‏
670 ‎‡a Author's Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.‏
670 ‎‡a Author's Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype‏
670 ‎‡a Author's Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy‏
670 ‎‡a Author's Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy‏
670 ‎‡a Author's BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension‏
670 ‎‡a Author's CAD mutations and uridine-responsive epileptic encephalopathy.‏
670 ‎‡a Author's Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency‏
670 ‎‡a Author's Characterization and function in vivo of two novel phospholipases B/lysophospholipases from Saccharomyces cerevisiae.‏
670 ‎‡a Author's Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?‏
670 ‎‡a Author's Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.‏
670 ‎‡a Author's Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I‏
670 ‎‡a Author's Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations‏
670 ‎‡a Author's Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies‏
670 ‎‡a Author's Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.‏
670 ‎‡a Author's COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency‏
670 ‎‡a Author's Danon disease: case report and detection of new mutation.‏
670 ‎‡a Author's Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma‏
670 ‎‡a Author's Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome‏
670 ‎‡a Author's Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.‏
670 ‎‡a Author's Deficiency of mitochondrial ATP synthase of nuclear genetic origin‏
670 ‎‡a Author's Deficiency of respiratory chain complex I in Hashimoto thyroiditis‏
670 ‎‡a Author's Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.‏
670 ‎‡a Author's Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3‏
670 ‎‡a Author's Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration‏
670 ‎‡a Author's Development of a human mitochondrial oligonucleotide microarray‏
670 ‎‡a Author's Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.‏
670 ‎‡a Author's Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.‏
670 ‎‡a Author's Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy‏
670 ‎‡a Author's ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy‏
670 ‎‡a Author's Erratum to: TMEM70 deficiency: long-term outcome of 48 patients‏
670 ‎‡a Author's Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.‏
670 ‎‡a Author's Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome‏
670 ‎‡a Author's From ventricul Omega ly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1‏
670 ‎‡a Author's Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells‏
670 ‎‡a Author's GAL3 receptor KO mice exhibit an anxiety-like phenotype‏
670 ‎‡a Author's Genetic diagnosis of Mendelian disorders via RNA sequencing‏
670 ‎‡a Author's Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms tumor‏
670 ‎‡a Author's Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency‏
670 ‎‡a Author's HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.‏
670 ‎‡a Author's Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings‏
670 ‎‡a Author's Identification of a novel, Ca2+ -dependent phospholipase D with preference for phosphatidylserine and phosphatidylethanolamine in Saccharomyces cerevisiae‏
670 ‎‡a Author's Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome‏
670 ‎‡a Author's Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.‏
670 ‎‡a Author's Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model‏
670 ‎‡a Author's Lack of complex I is associated with oncocytic thyroid tumours‏
670 ‎‡a Author's Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome‏
670 ‎‡a Author's Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect‏
670 ‎‡a Author's Lipid metabolism in mitochondrial membranes‏
670 ‎‡a Author's Lipoic acid biosynthesis defects.‏
670 ‎‡a Author's Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation‏
670 ‎‡a Author's Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma‏
670 ‎‡a Author's Loss of mitochondria in ganglioneuromas‏
670 ‎‡a Author's Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma‏
670 ‎‡a Author's LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study‏
670 ‎‡a Author's MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.‏
670 ‎‡a Author's Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit‏
670 ‎‡a Author's Mitochondrial DNA depletion in Alpers syndrome‏
670 ‎‡a Author's Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study‏
670 ‎‡a Author's Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism‏
670 ‎‡a Author's Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation‏
670 ‎‡a Author's Mitochondrial haplogroups and control region polymorphisms are not associated with prostate cancer in Middle European Caucasians‏
670 ‎‡a Author's Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study‏
670 ‎‡a Author's Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians‏
670 ‎‡a Author's Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene‏
670 ‎‡a Author's Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation‏
670 ‎‡a Author's MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.‏
670 ‎‡a Author's MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation‏
670 ‎‡a Author's Molecular and clinical spectra of FBXL4 deficiency.‏
670 ‎‡a Author's Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing‏
670 ‎‡a Author's Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups‏
670 ‎‡a Author's Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts‏
670 ‎‡a Author's Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.‏
670 ‎‡a Author's Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy‏
670 ‎‡a Author's Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy‏
670 ‎‡a Author's Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype‏
670 ‎‡a Author's NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood‏
670 ‎‡a Author's Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis‏
670 ‎‡a Author's Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis‏
670 ‎‡a Author's Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene‏
670 ‎‡a Author's Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening‏
670 ‎‡a Author's Platelet transfusion can mimic somatic mtDNA mutations‏
670 ‎‡a Author's Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?‏
670 ‎‡a Author's Protein sets define disease states and predict in vivo effects of drug treatment‏
670 ‎‡a Author's Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations.‏
670 ‎‡a Author's Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer‏
670 ‎‡a Author's Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase‏
670 ‎‡a Author's Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA.‏
670 ‎‡a Author's Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors‏
670 ‎‡a Author's Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency‏
670 ‎‡a Author's Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients‏
670 ‎‡a Author's Severe depletion of mitochondrial DNA in spinal muscular atrophy‏
670 ‎‡a Author's Spectrum of combined respiratory chain defects‏
670 ‎‡a Author's Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2‏
670 ‎‡a Author's The genotypic and phenotypic spectrum of MTO1 deficiency.‏
670 ‎‡a Author's The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease.‏
670 ‎‡a Author's The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations‏
670 ‎‡a Author's The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.‏
670 ‎‡a Author's The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders‏
670 ‎‡a Author's The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era‏
670 ‎‡a Author's Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway‏
670 ‎‡a Author's TMEM70 deficiency: long-term outcome of 48 patients‏
670 ‎‡a Author's TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy‏
670 ‎‡a Author's Treatable mitochondrial diseases: cofactor metabolism and beyond‏
670 ‎‡a Author's WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease‏
670 ‎‡a wikidata authority control‏ ‎‡u https://viaf.org/viaf/317162528‏
909 ‎‡a (orcid) 000000016970336x‏ ‎‡9 1‏
919 ‎‡a riboflavinresponsiveandnonresponsivemutationsinfadsynthasecausemultipleacylcoadehydrogenaseandcombinedrespiratorychaindeficiency‏ ‎‡A Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency‏ ‎‡9 1‏
919 ‎‡a severedepletionofmitochondrialdnainspinalmuscularatrophy‏ ‎‡A Severe depletion of mitochondrial DNA in spinal muscular atrophy‏ ‎‡9 1‏
919 ‎‡a spectrumofcombinedrespiratorychaindefects‏ ‎‡A Spectrum of combined respiratory chain defects‏ ‎‡9 1‏
919 ‎‡a suddencardiacdeathduetodeficiencyofthemitochondrialinorganicpyrophosphataseppa2‏ ‎‡A Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2‏ ‎‡9 1‏
919 ‎‡a genotypicandphenotypicspectrumofmto1deficiency‏ ‎‡A The genotypic and phenotypic spectrum of MTO1 deficiency.‏ ‎‡9 1‏
919 ‎‡a mitochondrialphosphatecarrierroleinoxidativemetabolismcalciumhandlingandmitochondrialdisease‏ ‎‡A The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease.‏ ‎‡9 1‏
919 ‎‡a mitochondrialt16189cpolymorphismisassociatedwithcoronaryarterydiseaseinmiddleeuropeanpopulations‏ ‎‡A The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations‏ ‎‡9 1‏
919 ‎‡a problemofinterlabvariationinmethodsformitochondrialdiseasediagnosisenzymaticmeasurementofrespiratorychaincomplexes‏ ‎‡A The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.‏ ‎‡9 1‏
919 ‎‡a spectrumofpyruvateoxidationdefectsinthediagnosisofmitochondrialdisorders‏ ‎‡A The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders‏ ‎‡9 1‏
919 ‎‡a switchinthediagnosisofmitochondrialdiseasesfromtheclassicalfunction1tothengsbasedgenetics1diagnosticera‏ ‎‡A The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era‏ ‎‡9 1‏
919 ‎‡a thiaminepyrophosphokinasedeficiencyinencephalopathicchildrenwithdefectsinthepyruvateoxidationpathway‏ ‎‡A Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway‏ ‎‡9 1‏
919 ‎‡a tmem70deficiencylongtermoutcomeof48patients‏ ‎‡A TMEM70 deficiency: long-term outcome of 48 patients‏ ‎‡9 1‏
919 ‎‡a tmem70mutationscauseisolatedatpsynthasedeficiencyandneonatalmitochondrialencephalocardiomyopathy‏ ‎‡A TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy‏ ‎‡9 1‏
919 ‎‡a treatablemitochondrialdiseasescofactormetabolismandbeyond‏ ‎‡A Treatable mitochondrial diseases: cofactor metabolism and beyond‏ ‎‡9 1‏
919 ‎‡a wdr73mutationscauseinfantileneurodegenerationandvariableglomerularkidneydisease‏ ‎‡A WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease‏ ‎‡9 1‏
919 ‎‡a sengerssyndrome6novelagkmutationsin7newfamiliesandreviewofthephenotypicandmutationalspectrumof29patients‏ ‎‡A Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients‏ ‎‡9 1‏
919 ‎‡a 11millionbasepair10chromosomaldeletioncoveringthepdha1andcdkl5genesinafemalepatientwithwestsyndromeandpyruvateoxidationdeficiency‏ ‎‡A A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency‏ ‎‡9 1‏
919 ‎‡a guidelineforthediagnosisofpediatricmitochondrialdiseasethevalueofmuscleandskinbiopsiesinthegeneticsera‏ ‎‡A A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era‏ ‎‡9 1‏
919 ‎‡a novelmutationoftherrm2bgeneinaninfantwithearlyfatalencephalomyopathycentralhypomyelinationandtubulopathy‏ ‎‡A A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.‏ ‎‡9 1‏
919 ‎‡a novelsporadicmutationg14739aofthemitochondrialtrna‏ ‎‡A A novel sporadic mutation G14739A of the mitochondrial tRNA‏ ‎‡9 1‏
919 ‎‡a novelsporadicmutationg14739aofthemitochondrialtrnagluinagirlwithexerciseintolerance‏ ‎‡A A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.‏ ‎‡9 1‏
919 ‎‡a acuteflaccidparalysisasinitialsymptomin4patientswithnovele1 Alpha mutationsofthepyruvatedehydrogenasecomplex‏ ‎‡A Acute flaccid paralysis as initial symptom in 4 patients with novel E1 Alpha mutations of the pyruvate dehydrogenase complex‏ ‎‡9 1‏
919 ‎‡a agerelateddeteriorationofmitochondrialfunctionintheintestine‏ ‎‡A Age-Related Deterioration of Mitochondrial Function in the Intestine‏ ‎‡9 1‏
919 ‎‡a alterationsofoxidativephosphorylationcomplexesinastrocytomas‏ ‎‡A Alterations of oxidative phosphorylation complexes in astrocytomas.‏ ‎‡9 1‏
919 ‎‡a alterationsofoxidativephosphorylationinmeningiomasandperipheralnervesheathtumors‏ ‎‡A Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors‏ ‎‡9 1‏
919 ‎‡a alterationsofrespiratorychaincomplexesinsporadicpheochromocytoma‏ ‎‡A Alterations of respiratory chain complexes in sporadic pheochromocytoma‏ ‎‡9 1‏
919 ‎‡a analysisofmitochondrialrnaprocessingdefectsinpatientderivedtissuesbyqrtpcrandrnaseq‏ ‎‡A Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq‏ ‎‡9 1‏
919 ‎‡a atypicalclinicalpresentationsoftazmutationsanunderdiagnosedcauseofgrowthretardation‏ ‎‡A Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?‏ ‎‡9 1‏
919 ‎‡a biallelicmutationsinndufa6establishitsroleinearlyonsetisolatedmitochondrialcomplex1deficiency‏ ‎‡A Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency‏ ‎‡9 1‏
919 ‎‡a biallelicc1qbpmutationscausesevereneonatalchildhoodorlateronsetcardiomyopathyassociatedwithcombinedrespiratorychaindeficiencies‏ ‎‡A Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies‏ ‎‡9 1‏
919 ‎‡a bialleliciarsmutationscausegrowthretardationwithprenatalonsetintellectualdisabilitymuscularhypotoniaandinfantilehepatopathy‏ ‎‡A Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy‏ ‎‡9 1‏
919 ‎‡a biallelicmutationsinatp5f1dwhichencodesasubunitofatpsynthasecauseametabolicdisorder‏ ‎‡A Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder‏ ‎‡9 1‏
919 ‎‡a biallelicmutationsinlipt2causeamitochondriallipoylationdefectassociatedwithsevereneonatalencephalopathy‏ ‎‡A Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.‏ ‎‡9 1‏
919 ‎‡a biallelicmutationsintmem126bcauseseverecomplex1deficiencywithavariableclinicalphenotype‏ ‎‡A Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype‏ ‎‡9 1‏
919 ‎‡a biallelicvariantsinthetranscriptionfactorpax7areanewgeneticcauseofmyopathy‏ ‎‡A Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy‏ ‎‡9 1‏
919 ‎‡a biallelicvariantsinwars2encodingmitochondrialtryptophanyltrnasynthasein6individualswithmitochondrialencephalopathy‏ ‎‡A Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy‏ ‎‡9 1‏
919 ‎‡a bolabolafamilymember3deficiencycontrolsendothelialmetabolismandglycinehomeostasisinpulmonaryhypertension‏ ‎‡A BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension‏ ‎‡9 1‏
919 ‎‡a cadmutationsanduridineresponsiveepilepticencephalopathy‏ ‎‡A CAD mutations and uridine-responsive epileptic encephalopathy.‏ ‎‡9 1‏
919 ‎‡a cellularrescueassayaidsverificationofcausativednavariantsinmitochondrialcomplex1deficiency‏ ‎‡A Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency‏ ‎‡9 1‏
919 ‎‡a characterizationandfunctioninvivoof2novelphospholipasesblysophospholipasesfromsaccharomycescerevisiae‏ ‎‡A Characterization and function in vivo of two novel phospholipases B/lysophospholipases from Saccharomyces cerevisiae.‏ ‎‡9 1‏
919 ‎‡a clinicalbiochemicalandgeneticspectrumof70patientswithacad9deficiencyisriboflavinsupplementationeffective‏ ‎‡A Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?‏ ‎‡9 1‏
919 ‎‡a clinicalbiochemicalandgeneticspectrumof7patientswithnfu1deficiency‏ ‎‡A Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.‏ ‎‡9 1‏
919 ‎‡a clinicalheterogeneityinpatientswithmutationsinthendufs4geneofmitochondrialcomplex1‏ ‎‡A Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I‏ ‎‡9 1‏
919 ‎‡a clinicalmorphologicalbiochemicalimagingandoutcomeparametersin21individualswithmitochondrialmaintenancedefectrelatedtofbxl4mutations‏ ‎‡A Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations‏ ‎‡9 1‏
919 ‎‡a combinedrespiratorychaindeficiencyanduqcc2mutationsinneonatalencephalomyopathydefectivesupercomplexassemblyincomplex3deficiencies‏ ‎‡A Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies‏ ‎‡9 1‏
919 ‎‡a congenitalcataractmuscularhypotoniadevelopmentaldelayandsensorineuralhearinglossassociatedwithadefectincoppermetabolism‏ ‎‡A Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.‏ ‎‡9 1‏
919 ‎‡a coq4mutationscauseabroadspectrumofmitochondrialdisordersassociatedwithcoq10deficiency‏ ‎‡A COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency‏ ‎‡9 1‏
919 ‎‡a danondiseasecasereportanddetectionofnewmutation‏ ‎‡A Danon disease: case report and detection of new mutation.‏ ‎‡9 1‏
919 ‎‡a decreaseofmitochondrialdnacontentandenergymetabolisminrenalcellcarcinoma‏ ‎‡A Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma‏ ‎‡9 1‏
919 ‎‡a defectivemetabolicprogrammingimpairsearlyneuronalmorphogenesisinneuralculturesandanorganoidmodelofleighsyndrome‏ ‎‡A Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome‏ ‎‡9 1‏
919 ‎‡a deficiencyofechs1causesmitochondrialencephalopathywithcardiacinvolvement‏ ‎‡A Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.‏ ‎‡9 1‏
919 ‎‡a deficiencyofmitochondrialatpsynthaseofnucleargeneticorigin‏ ‎‡A Deficiency of mitochondrial ATP synthase of nuclear genetic origin‏ ‎‡9 1‏
919 ‎‡a deficiencyofrespiratorychaincomplex1inhashimotothyroiditis‏ ‎‡A Deficiency of respiratory chain complex I in Hashimoto thyroiditis‏ ‎‡9 1‏
919 ‎‡a deficiencyofthemitochondrialphosphatecarrierpresentingasmyopathyandcardiomyopathyinafamilywith3affectedchildren‏ ‎‡A Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.‏ ‎‡9 1‏
919 ‎‡a deficientmethylationandformylationofmttrnametwobblecytosineinapatientcarryingmutationsinnsun3‏ ‎‡A Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3‏ ‎‡9 1‏
919 ‎‡a delineatingmtatp6associateddiseasefromisolatedneuropathytoearlyonsetneurodegeneration‏ ‎‡A Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration‏ ‎‡9 1‏
919 ‎‡a developmentofahumanmitochondrialoligonucleotidemicroarray‏ ‎‡A Development of a human mitochondrial oligonucleotide microarray‏ ‎‡9 1‏
919 ‎‡a developmentofahumanmitochondrialoligonucleotidemicroarrayhmitoarrayandgeneexpressionanalysisoffibroblastcelllinesfrom13patientswithisolatedf1foatpsynthasedeficiency‏ ‎‡A Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.‏ ‎‡9 1‏
919 ‎‡a difficultiesinrecognitionofpyruvatedehydrogenasecomplexdeficiencyonthebasisofclinicalandbiochemicalfeaturestheroleofnextgenerationsequencing‏ ‎‡A Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.‏ ‎‡9 1‏
919 ‎‡a disturbedmitochondrialandperoxisomaldynamicsduetolossofmffcausesleighlikeencephalopathyopticatrophyandperipheralneuropathy‏ ‎‡A Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy‏ ‎‡9 1‏
919 ‎‡a elac2mutationscauseamitochondrialrnaprocessingdefectassociatedwithhypertrophiccardiomyopathy‏ ‎‡A ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy‏ ‎‡9 1‏
919 ‎‡a erratumtotmem70deficiencylongtermoutcomeof48patients‏ ‎‡A Erratum to: TMEM70 deficiency: long-term outcome of 48 patients‏ ‎‡9 1‏
919 ‎‡a expandingtheclinicalandmolecularspectrumofthiaminepyrophosphokinasedeficiencyatreatableneurologicaldisordercausedbytpk1mutations‏ ‎‡A Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.‏ ‎‡9 1‏
919 ‎‡a freethiamineisapotentialbiomarkerofthiaminetransporter2deficiencyatreatablecauseofleighsyndrome‏ ‎‡A Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome‏ ‎‡9 1‏
919 ‎‡a fromventricul Omega lytoseveremuscularatrophyexpansionoftheclinicalspectrumrelatedtomutationsinaifm1‏ ‎‡A From ventricul Omega ly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1‏ ‎‡9 1‏
919 ‎‡a functionaldifferencesbetweenmitochondrialhaplogrouptandhaplogrouphinhek293cybridcells‏ ‎‡A Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells‏ ‎‡9 1‏
919 ‎‡a gal3receptorkomiceexhibitananxietylikephenotype‏ ‎‡A GAL3 receptor KO mice exhibit an anxiety-like phenotype‏ ‎‡9 1‏
919 ‎‡a geneticdiagnosisofmendeliandisordersviarnasequencing‏ ‎‡A Genetic diagnosis of Mendelian disorders via RNA sequencing‏ ‎‡9 1‏
919 ‎‡a heterogeneityofmitochondrialenergymetabolisminclassicaltriphasicwilmstumor‏ ‎‡A Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms tumor‏ ‎‡9 1‏
919 ‎‡a heterozygousmutationinthe10chromosomalndufa1geneinagirlwithcomplex1deficiency‏ ‎‡A Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency‏ ‎‡9 1‏
919 ‎‡a hibchdeficiencyinapatientwithphenotypiccharacteristicsofmitochondrialdisorders‏ ‎‡A HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.‏ ‎‡9 1‏
919 ‎‡a homozygousmissensemutationinbola3causesmultiplemitochondrialdysfunctionssyndromein2siblings‏ ‎‡A Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings‏ ‎‡9 1‏
919 ‎‡a identificationofanovelca2+dependentphospholipase500withpreferenceforphosphatidylserineandphosphatidylethanolamineinsaccharomycescerevisiae‏ ‎‡A Identification of a novel, Ca2+ -dependent phospholipase D with preference for phosphatidylserine and phosphatidylethanolamine in Saccharomyces cerevisiae‏ ‎‡9 1‏
919 ‎‡a impairedriboflavintransportduetomissensemutationsinslc52a2causesbrownvialettovanlaeresyndrome‏ ‎‡A Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome‏ ‎‡9 1‏
919 ‎‡a infantileperipheralneuropathydeafnessandproximaltubulopathyassociatedwithanovelmutationoftherrm2bgenecasestudy‏ ‎‡A Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.‏ ‎‡9 1‏
919 ‎‡a inhibitionofneuroblastomatumorgrowthbyketogenicdietandorcalorierestrictioninacd1numousemodel‏ ‎‡A Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model‏ ‎‡9 1‏
919 ‎‡a lackofcomplex1isassociatedwithoncocyticthyroidtumours‏ ‎‡A Lack of complex I is associated with oncocytic thyroid tumours‏ ‎‡9 1‏
919 ‎‡a lackofthemitochondrialproteinacylglycerolkinasecausessengerssyndrome‏ ‎‡A Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome‏ ‎‡9 1‏
919 ‎‡a leighdiseasewithbrainsteminvolvementincomplex1deficiencyduetoassemblyfactorndufaf2defect‏ ‎‡A Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect‏ ‎‡9 1‏
919 ‎‡a lipidmetabolisminmitochondrialmembranes‏ ‎‡A Lipid metabolism in mitochondrial membranes‏ ‎‡9 1‏
919 ‎‡a lipoicacidbiosynthesisdefects‏ ‎‡A Lipoic acid biosynthesis defects.‏ ‎‡9 1‏
919 ‎‡a lipoicacidsynthetasedeficiencycausesneonatalonsetepilepsydefectivemitochondrialenergymetabolismandglycineelevation‏ ‎‡A Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation‏ ‎‡9 1‏
919 ‎‡a lossofcomplex1duetomitochondrialdnamutationsinrenaloncocytoma‏ ‎‡A Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma‏ ‎‡9 1‏
919 ‎‡a lossofmitochondriainganglioneuromas‏ ‎‡A Loss of mitochondria in ganglioneuromas‏ ‎‡9 1‏
919 ‎‡a lowaerobicmitochondrialenergymetabolisminpoorlyorundifferentiatedneuroblastoma‏ ‎‡A Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma‏ ‎‡9 1‏
919 ‎‡a lyrm7associatedcomplex3deficiencyaclinicalmoleculargeneticmrtomographicandbiochemicalstudy‏ ‎‡A LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study‏ ‎‡9 1‏
919 ‎‡a melassyndromeandkidneydiseasewithoutfanconisyndromeorproteinuriaacasereport‏ ‎‡A MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.‏ ‎‡9 1‏
919 ‎‡a mitochondrialatpsynthasedeficiencyduetoamutationintheatp5egeneforthef1epsilonsubunit‏ ‎‡A Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit‏ ‎‡9 1‏
919 ‎‡a mitochondrialdnadepletioninalperssyndrome‏ ‎‡A Mitochondrial DNA depletion in Alpers syndrome‏ ‎‡9 1‏
919 ‎‡a mitochondrialdnahaplogrouptisassociatedwithcoronaryarterydiseaseanddiabeticretinopathyacasecontrolstudy‏ ‎‡A Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study‏ ‎‡9 1‏
919 ‎‡a mitochondrialdnamutationsinrenalcellcarcinomasrevealednogeneralimpactonenergymetabolism‏ ‎‡A Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism‏ ‎‡9 1‏
919 ‎‡a mitochondrialencephalocardiomyopathywithearlyneonatalonsetduetotmem70mutation‏ ‎‡A Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation‏ ‎‡9 1‏
919 ‎‡a mitochondrialhaplogroupsandcontrolregionpolymorphismsarenotassociatedwithprostatecancerinmiddleeuropeancaucasians‏ ‎‡A Mitochondrial haplogroups and control region polymorphisms are not associated with prostate cancer in Middle European Caucasians‏ ‎‡9 1‏
919 ‎‡a mitochondrialhaplogroupsandcontrolregionpolymorphismsinagerelatedmaculardegenerationacasecontrolstudy‏ ‎‡A Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study‏ ‎‡9 1‏
919 ‎‡a mitochondrialhaplogroupscontrolregionpolymorphismsandmalignantmelanomaastudyinmiddleeuropeancaucasians‏ ‎‡A Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians‏ ‎‡9 1‏
919 ‎‡a mitochondrialmyopathyassociatedwithanovel5522gamutationinthemitochondrialtrnatrpgene‏ ‎‡A Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene‏ ‎‡9 1‏
919 ‎‡a mitochondrialphosphatecarrierdeficiencyanoveldisorderofoxidativephosphorylation‏ ‎‡A Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation‏ ‎‡9 1‏
919 ‎‡a mks1mutationscausejoubertsyndromewithagenesisofthecorpuscallosum‏ ‎‡A MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.‏ ‎‡9 1‏
919 ‎‡a mngiesyndromelivercirrhosisshouldberuledoutpriortobonemarrowtransplantation‏ ‎‡A MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation‏ ‎‡9 1‏
919 ‎‡a molecularandclinicalspectraoffbxl4deficiency‏ ‎‡A Molecular and clinical spectra of FBXL4 deficiency.‏ ‎‡9 1‏
919 ‎‡a moleculardiagnosisinmitochondrialcomplex1deficiencyusingexomesequencing‏ ‎‡A Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing‏ ‎‡9 1‏
919 ‎‡a multiplex1extensionanalysisforrapiddetectionofmajoreuropeanmitochondrialhaplogroups‏ ‎‡A Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups‏ ‎‡9 1‏
919 ‎‡a mutationorknockdownof17βhydroxysteroiddehydrogenasetype10causelossofmrpp1andimpairedprocessingofmitochondrialheavystrandtranscripts‏ ‎‡A Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts‏ ‎‡9 1‏
919 ‎‡a mutationscreeningof75candidategenesin152complex1deficiencycasesidentifiespathogenicvariantsin16genesincludingndufb9‏ ‎‡A Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.‏ ‎‡9 1‏
919 ‎‡a mutationsinfbxl4encodingamitochondrialproteincauseearlyonsetmitochondrialencephalomyopathy‏ ‎‡A Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy‏ ‎‡9 1‏
919 ‎‡a mutationsingtpbp3causeamitochondrialtranslationdefectassociatedwithhypertrophiccardiomyopathylacticacidosisandencephalopathy‏ ‎‡A Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy‏ ‎‡9 1‏
919 ‎‡a mutationsinttc19expandingthemolecularclinicalandbiochemicalphenotype‏ ‎‡A Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype‏ ‎‡9 1‏
919 ‎‡a naxemutationsdisruptthecellularnadphxrepairsystemandcausealethalneurometabolicdisorderofearlychildhood‏ ‎‡A NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood‏ ‎‡9 1‏
919 ‎‡a neonatalonsetofmitochondrialdisordersin129patientsclinicalandlaboratorycharacteristicsandanewapproachtodiagnosis‏ ‎‡A Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis‏ ‎‡9 1‏
919 ‎‡a oxidativephosphorylationsystemingastriccarcinomasandgastritis‏ ‎‡A Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis‏ ‎‡9 1‏
919 ‎‡a phenotypicspectrumassociatedwithmutationsofthemitochondrialpolymerasegammagene‏ ‎‡A Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene‏ ‎‡9 1‏
919 ‎‡a phenotypicspectrumof11patientsand5novelmtfmtmutationsidentifiedbyexomesequencingandcandidategenescreening‏ ‎‡A Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening‏ ‎‡9 1‏
919 ‎‡a platelettransfusioncanmimicsomaticmtdnamutations‏ ‎‡A Platelet transfusion can mimic somatic mtDNA mutations‏ ‎‡9 1‏
919 ‎‡a previouslyunreportedbiallelicmutationindnajc19aresensorineuralhearinglossandbasalganglialesionsadditionalfeaturesofdilatedcardiomyopathyandataxiadcmasyndrome‏ ‎‡A Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?‏ ‎‡9 1‏
919 ‎‡a proteinsetsdefinediseasestatesandpredictinvivoeffectsofdrugtreatment‏ ‎‡A Protein sets define disease states and predict in vivo effects of drug treatment‏ ‎‡9 1‏
919 ‎‡a rapidscreeningoftheentiremitochondrialdnaforlowlevelheteroplasmicmutations‏ ‎‡A Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations.‏ ‎‡9 1‏
919 ‎‡a reducedlevelsofatpsynthasesubunitatp5f1acorrelatewithearlieronsetprostatecancer‏ ‎‡A Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer‏ ‎‡9 1‏
919 ‎‡a reducedrespiratorycontrolwithadpandchangedpatternofrespiratorychainenzymesasaresultofselectivedeficiencyofthemitochondrialatpsynthase‏ ‎‡A Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase‏ ‎‡9 1‏
919 ‎‡a reductionofnuclearencodedenzymesofmitochondrialenergymetabolismincellsdevoidofmitochondrialdna‏ ‎‡A Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA.‏ ‎‡9 1‏
919 ‎‡a respiratorychaincomplex1isamitochondrialtumorsuppressorofoncocytictumors‏ ‎‡A Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors‏ ‎‡9 1‏
946 ‎‡a b‏ ‎‡9 1‏
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996 ‎‡2 LC|nr 89007534‏
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996 ‎‡2 BNCHL|10000000000000000053795‏
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996 ‎‡2 NUKAT|n 2022201993‏
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996 ‎‡2 BNF|12210418‏
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996 ‎‡2 LC|no2021038796‏
996 ‎‡2 ISNI|0000000076897847‏
996 ‎‡2 DE633|pe30073164‏
996 ‎‡2 NKC|jo2009504052‏
997 ‎‡a 0 0 lived 0 0‏ ‎‡9 1‏
998 ‎‡a Mayr, Johannes A.‏ ‎‡2 NSK|000653721‏ ‎‡3 title: (0.97, 'infantileperipheralneuropathydeafnessandproximaltubulopathyassociatedwithanovelmutationoftherrm2bgene', 'infantileperipheralneuropathydeafnessandproximaltubulopathyassociatedwithanovelmutationoftherrm2bgenecasestudy')‏ ‎‡3 viafid‏