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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 E1alpha 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 ventriculomegaly 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  acuteflaccidparalysisasinitialsymptomin4patientswithnovele1alphamutationsofthepyruvatedehydrogenasecomplex‏ ‎‡A  Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha 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  fromventriculomegalytoseveremuscularatrophyexpansionoftheclinicalspectrumrelatedtomutationsinaifm1‏ ‎‡A  From ventriculomegaly 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
996 ‎‡2  DNB|121077489‏
996 ‎‡2  DNB|1023934841‏
996 ‎‡2  DNB|1228137986‏
996 ‎‡2  SUDOC|241930472‏
996 ‎‡2  DNB|122225236‏
996 ‎‡2  PTBNP|247701‏
996 ‎‡2  NYNYRILM|74284‏
996 ‎‡2  DE633|pe30030388‏
996 ‎‡2  DNB|1144379474‏
996 ‎‡2  ISNI|0000000072260099‏
996 ‎‡2  PLWABN|9810575048505606‏
996 ‎‡2  BNF|15605173‏
996 ‎‡2  DNB|129644897‏
996 ‎‡2  DNB|173465102‏
996 ‎‡2  DNB|122225198‏
996 ‎‡2  NKC|xx0099712‏
996 ‎‡2  DNB|1140513095‏
996 ‎‡2  SUDOC|26206278X‏
996 ‎‡2  NUKAT|n 2017152949‏
996 ‎‡2  DE633|pe296739‏
996 ‎‡2  NTA|302562923‏
996 ‎‡2  DNB|1046245821‏
996 ‎‡2  NUKAT|n 2006074042‏
996 ‎‡2  DE633|pe30114037‏
996 ‎‡2  RERO|A009652194‏
996 ‎‡2  PLWABN|9810676414705606‏
996 ‎‡2  DNB|1026480450‏
996 ‎‡2  LC|nr 89007534‏
996 ‎‡2  ISNI|0000000121253662‏
996 ‎‡2  DNB|1232117897‏
996 ‎‡2  DNB|1122053185‏
996 ‎‡2  DNB|116973331‏
996 ‎‡2  NKC|xx0282110‏
996 ‎‡2  PLWABN|9810588104305606‏
996 ‎‡2  PLWABN|9810556727805606‏
996 ‎‡2  BNF|15367188‏
996 ‎‡2  DNB|142505293‏
996 ‎‡2  SUDOC|185436269‏
996 ‎‡2  DE633|pe98061‏
996 ‎‡2  NTA|205301355‏
996 ‎‡2  DNB|118732374‏
996 ‎‡2  BIBSYS|7006861‏
996 ‎‡2  PTBNP|1678546‏
996 ‎‡2  ISNI|0000000369517342‏
996 ‎‡2  RERO|A003577342‏
996 ‎‡2  RERO|A003577340‏
996 ‎‡2  BIBSYS|2030362‏
996 ‎‡2  PLWABN|9812422663805606‏
996 ‎‡2  RERO|A024017418‏
996 ‎‡2  DNB|13803057X‏
996 ‎‡2  DNB|1153615924‏
996 ‎‡2  RERO|A023341341‏
996 ‎‡2  ISNI|000000045477540X‏
996 ‎‡2  DNB|100372988‏
996 ‎‡2  DNB|1211496589‏
996 ‎‡2  DNB|1021937401‏
996 ‎‡2  NUKAT|n 2009124213‏
996 ‎‡2  NUKAT|n 2019208610‏
996 ‎‡2  LC|no2010107488‏
996 ‎‡2  LC|n 82135099‏
996 ‎‡2  SUDOC|174227728‏
996 ‎‡2  DNB|11975665X‏
996 ‎‡2  SELIBR|214203‏
996 ‎‡2  ISNI|0000000365013489‏
996 ‎‡2  DNB|129869066‏
996 ‎‡2  ISNI|0000000121335019‏
996 ‎‡2  NSK|000057938‏
996 ‎‡2  RERO|A023222065‏
996 ‎‡2  BNF|12322937‏
996 ‎‡2  DNB|1021024112‏
996 ‎‡2  JPG|500098189‏
996 ‎‡2  BNCHL|10000000000000000053795‏
996 ‎‡2  LC|n 50048943‏
996 ‎‡2  ISNI|0000000115838285‏
996 ‎‡2  LC|n 90624136‏
996 ‎‡2  DE633|pe30012607‏
996 ‎‡2  BNF|12313567‏
996 ‎‡2  RERO|A000112329‏
996 ‎‡2  LIH|LNB:T_q_0;=B_b_‏
996 ‎‡2  DNB|124844235‏
996 ‎‡2  DE633|pe30047163‏
996 ‎‡2  NKC|xx0049878‏
996 ‎‡2  DE633|pe30047169‏
996 ‎‡2  DNB|123493889‏
996 ‎‡2  NUKAT|n 2022201993‏
996 ‎‡2  NKC|skuk0003998‏
996 ‎‡2  RERO|A024201162‏
996 ‎‡2  NSK|000085438‏
996 ‎‡2  DNB|131606977X‏
996 ‎‡2  NTA|128373180‏
996 ‎‡2  BNC|981058607827606706‏
996 ‎‡2  DE633|pe30074086‏
996 ‎‡2  DNB|1078433836‏
996 ‎‡2  DNB|103752117X‏
996 ‎‡2  DNB|1116373467‏
996 ‎‡2  DNB|1145901948‏
996 ‎‡2  NLA|000035838245‏
996 ‎‡2  DNB|116973242‏
996 ‎‡2  JPG|500162927‏
996 ‎‡2  DE633|pe30049432‏
996 ‎‡2  NII|DA0691185X‏
996 ‎‡2  DE633|pe30107965‏
996 ‎‡2  DNB|120167557‏
996 ‎‡2  JPG|500004624‏
996 ‎‡2  SUDOC|268886296‏
996 ‎‡2  DNB|134781244‏
996 ‎‡2  DNB|130839574‏
996 ‎‡2  DNB|136763278‏
996 ‎‡2  DNB|128351608‏
996 ‎‡2  LC|n 93028340‏
996 ‎‡2  DNB|128585595‏
996 ‎‡2  DNB|116973366‏
996 ‎‡2  DNB|129879231‏
996 ‎‡2  DNB|1299865690‏
996 ‎‡2  DNB|174245017‏
996 ‎‡2  DNB|1175407178‏
996 ‎‡2  DNB|1026802555‏
996 ‎‡2  DNB|1077669631‏
996 ‎‡2  DNB|130414409‏
996 ‎‡2  NUKAT|n 2012219666‏
996 ‎‡2  NLA|000035671933‏
996 ‎‡2  ISNI|0000000370921166‏
996 ‎‡2  PLWABN|9811718549505606‏
996 ‎‡2  BAV|495_179604‏
996 ‎‡2  NKC|ola2015893733‏
996 ‎‡2  LIH|LNB:9_p_B;=BR‏
996 ‎‡2  LC|n 89664899‏
996 ‎‡2  DE633|pe40003995‏
996 ‎‡2  DE633|pe30103148‏
996 ‎‡2  SZ|118732374‏
996 ‎‡2  DNB|1051068304‏
996 ‎‡2  DNB|121017109‏
996 ‎‡2  DE633|pe50036378‏
996 ‎‡2  BNF|14441432‏
996 ‎‡2  ISNI|0000000023651173‏
996 ‎‡2  SIMACOB|79705699‏
996 ‎‡2  JPG|500348426‏
996 ‎‡2  RERO|A023251642‏
996 ‎‡2  PLWABN|9810665009005606‏
996 ‎‡2  RERO|A012520356‏
996 ‎‡2  NKC|jo2017941672‏
996 ‎‡2  NKC|jo2017941675‏
996 ‎‡2  DNB|1347404392‏
996 ‎‡2  DNB|122852206‏
996 ‎‡2  DNB|122572130‏
996 ‎‡2  SZ|11816452X‏
996 ‎‡2  DNB|1012382419‏
996 ‎‡2  DNB|104624261X‏
996 ‎‡2  DNB|1074370775‏
996 ‎‡2  RERO|A017030627‏
996 ‎‡2  NUKAT|n 2018262304‏
996 ‎‡2  NUKAT|nx2022898813‏
996 ‎‡2  B2Q|0000363890‏
996 ‎‡2  DNB|124755119‏
996 ‎‡2  DNB|1037501519‏
996 ‎‡2  DE633|pe41013580‏
996 ‎‡2  ISNI|0000000003411332‏
996 ‎‡2  BNF|11450131‏
996 ‎‡2  DNB|1252630115‏
996 ‎‡2  DNB|1037844459‏
996 ‎‡2  ISNI|0000000081266708‏
996 ‎‡2  LC|no2004039028‏
996 ‎‡2  SZ|143535269‏
996 ‎‡2  DE633|pe30092331‏
996 ‎‡2  DNB|1157867464‏
996 ‎‡2  DNB|124890156‏
996 ‎‡2  NTA|370156889‏
996 ‎‡2  DNB|124751946‏
996 ‎‡2  ISNI|0000000392275628‏
996 ‎‡2  DNB|1016153341‏
996 ‎‡2  J9U|987007332688005171‏
996 ‎‡2  RERO|A014167840‏
996 ‎‡2  CAOONL|ncf10892731‏
996 ‎‡2  RERO|A023759941‏
996 ‎‡2  SUDOC|104661720‏
996 ‎‡2  DNB|1136108858‏
996 ‎‡2  SIMACOB|197511267‏
996 ‎‡2  J9U|987007426485505171‏
996 ‎‡2  DNB|1037583140‏
996 ‎‡2  DE633|pe41008915‏
996 ‎‡2  DNB|122786637‏
996 ‎‡2  LC|nb2001030170‏
996 ‎‡2  DNB|131896059‏
996 ‎‡2  DNB|1046246690‏
996 ‎‡2  BIBSYS|98060690‏
996 ‎‡2  DNB|1122219563‏
996 ‎‡2  DNB|170376419‏
996 ‎‡2  BNE|XX1653108‏
996 ‎‡2  DNB|1186999497‏
996 ‎‡2  DNB|115676929‏
996 ‎‡2  ISNI|0000000109631800‏
996 ‎‡2  PLWABN|9810655830405606‏
996 ‎‡2  SUDOC|031006469‏
996 ‎‡2  DBC|87097991537516‏
996 ‎‡2  DNB|12274439X‏
996 ‎‡2  LC|no2011029628‏
996 ‎‡2  SIMACOB|200737123‏
996 ‎‡2  LC|n 93110093‏
996 ‎‡2  DNB|1046246186‏
996 ‎‡2  DNB|104493137X‏
996 ‎‡2  BNF|12230807‏
996 ‎‡2  SELIBR|206746‏
996 ‎‡2  SIMACOB|26579811‏
996 ‎‡2  PTBNP|210854‏
996 ‎‡2  DNB|13353197X‏
996 ‎‡2  DNB|119022222‏
996 ‎‡2  RERO|A013636542‏
996 ‎‡2  NSK|000242006‏
996 ‎‡2  DNB|121293262‏
996 ‎‡2  DNB|107349327X‏
996 ‎‡2  NTA|085022543‏
996 ‎‡2  NSK|000087445‏
996 ‎‡2  DNB|1053275447‏
996 ‎‡2  RERO|A014167544‏
996 ‎‡2  DNB|1046242717‏
996 ‎‡2  SUDOC|182216586‏
996 ‎‡2  LC|no2012036083‏
996 ‎‡2  DNB|1208033026‏
996 ‎‡2  RERO|A003206941‏
996 ‎‡2  RERO|A023222133‏
996 ‎‡2  BNF|12210418‏
996 ‎‡2  LC|n 2020183836‏
996 ‎‡2  ISNI|0000000061378518‏
996 ‎‡2  DNB|128585129‏
996 ‎‡2  NKC|ola2013791957‏
996 ‎‡2  PTBNP|1756959‏
996 ‎‡2  DNB|1020254785‏
996 ‎‡2  DE633|pe30105203‏
996 ‎‡2  NTA|131885588‏
996 ‎‡2  NLA|000035598014‏
996 ‎‡2  DNB|1023609541‏
996 ‎‡2  DE633|pe30063006‏
996 ‎‡2  ISNI|0000000367640152‏
996 ‎‡2  RERO|A021998880‏
996 ‎‡2  DNB|128585390‏
996 ‎‡2  ISNI|0000000072885574‏
996 ‎‡2  PLWABN|9810608837105606‏
996 ‎‡2  BIBSYS|99050140‏
996 ‎‡2  PLWABN|9813173371505606‏
996 ‎‡2  BIBSYS|90180527‏
996 ‎‡2  DNB|104624597X‏
996 ‎‡2  BAV|495_218723‏
996 ‎‡2  DNB|1019747854‏
996 ‎‡2  DNB|1080179968‏
996 ‎‡2  DNB|12968385X‏
996 ‎‡2  ISNI|0000000022157093‏
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