Johannes A Mayr investigador
Mayr, Johannes A.
VIAF ID: 317162528 (Personal)
Permalink: http://viaf.org/viaf/317162528
Preferred Forms
- 100 0 _ ‡a Johannes A Mayr ‡c investigador
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4xx's: Alternate Name Forms (4)
Works
Title | Sources |
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Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I | |
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations | |
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. | |
Danon disease: case report and detection of new mutation. | |
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome | |
Deficiency of respiratory chain complex I in Hashimoto thyroiditis | |
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3 | |
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration | |
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. | |
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. | |
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy | |
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy | |
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome | |
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1 | |
Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells | |
GAL3 receptor KO mice exhibit an anxiety-like phenotype | |
Genetic diagnosis of Mendelian disorders via RNA sequencing | |
The genotypic and phenotypic spectrum of MTO1 deficiency. | |
Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms tumor | |
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. | |
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings | |
Identification of a novel, Ca2+ -dependent phospholipase D with preference for phosphatidylserine and phosphatidylethanolamine in Saccharomyces cerevisiae | |
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome | |
Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study. | |
Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model | |
Lack of complex I is associated with oncocytic thyroid tumours | |
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome | |
Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect | |
Lipoic acid biosynthesis defects. | |
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation | |
Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma | |
Loss of mitochondria in ganglioneuromas | |
Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma | |
MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report. | |
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit | |
Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism | |
Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians | |
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation | |
The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations | |
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. | |
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation | |
Molecular and clinical spectra of FBXL4 deficiency. | |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing | |
Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups | |
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts | |
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. | |
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype | |
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood | |
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis | |
A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance. | |
Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis | |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. | |
Platelet transfusion can mimic somatic mtDNA mutations | |
Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? | |
The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes. | |
Protein sets define disease states and predict in vivo effects of drug treatment | |
Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. | |
Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer | |
Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase | |
Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA. | |
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients | |
Severe depletion of mitochondrial DNA in spinal muscular atrophy | |
Spectrum of combined respiratory chain defects | |
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders | |
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 | |
The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era | |
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway | |
TMEM70 deficiency: long-term outcome of 48 patients | |
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy | |
Treatable mitochondrial diseases: cofactor metabolism and beyond. | |
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease |