J. Mayr

发表

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Thomas Meitinger, Gabi Kastenmüller, Jerzy Adamski, 2017, Nature Communications.

Genetic diagnosis of Mendelian disorders via RNA sequencing

Robert W. Taylor, Daniel M Bader, J. Gagneur, 2017, Nature Communications.

Protein Sets Define Disease States and Predict In Vivo Effects of Drug Treatment*

S. Sauer, Chung-Ting Han, F. Schroeder, 2013, Molecular & Cellular Proteomics.

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

C. Fauth, D. Meierhofer, J. Zschocke, 2011, American Journal of Human Genetics.

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Robert W. Taylor, H. Prokisch, A. Rötig, 2014, Orphanet Journal of Rare Diseases.

A ketogenic diet supplemented with medium-chain triglycerides enhances the anti-tumor and anti-angiogenic efficacy of chemotherapy on neuroblastoma xenografts in a CD1-nu mouse model

W. Sperl, B. Kofler, J. Mayr, 2017, Oncotarget.

Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor.

M. Veiga-da-Cunha, S. Wortmann, T. Derks, 2020, Blood.

Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 Authors

McFarland, T. Meitinger, T. Strom, 2016 .

Distinct maternal amino acids and oxylipins predict infant fat mass and fat-free mass indices

A. Berghold, M. Rothe, N. Schweighofer, 2020, Archives of physiology and biochemistry.

Mitochondrial Disease and Hearing Loss in Children: A Systematic Review

G. Rasp, S. Wortmann, S. Roesch, 2022, The Laryngoscope.

Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms' tumor.

N. Jones, W. Sperl, B. Kofler, 2011, Frontiers in bioscience.

Alterations of respiratory chain complexes in sporadic pheochromocytoma.

N. Jones, W. Sperl, B. Kofler, 2011, Frontiers in bioscience.

Melanoma tumors exhibit a variable but distinct metabolic signature

W. Sperl, B. Kofler, F. Rathje, 2018, Experimental dermatology.

Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer

Muhammad A. Hagras, D. Meierhofer, A. Stuchebrukhov, 2019, Cells.

Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B

T. Meitinger, E. Pataraia, F. Zimprich, 2021, Seizure.

Lipid metabolism in mitochondrial membranes

J. Mayr, 2015, Journal of Inherited Metabolic Disease.

Congenital disorders of glycosylation with defective fucosylation

S. Wortmann, C. Thiel, D. Lefeber, 2021, Journal of inherited metabolic disease.

Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors.

K. Sargsyan, W. Sperl, B. Kofler, 2011, Frontiers in bioscience.

HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy—Report of 11 Patients

H. Prokisch, S. Wortmann, J. Mayr, 2018, Neuropediatrics.

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

I. Rivera, H. Prokisch, R. Rodenburg, 2015, Journal of Inherited Metabolic Disease.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

T. Meitinger, T. Strom, H. Prokisch, 2018, American journal of human genetics.

BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension

Daniel G. Anderson, James E. Dahlman, W. Wallace, 2019, Circulation.

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

H. Prokisch, T. Haack, W. Sperl, 2016, Journal of Medical Genetics.

Disorders of Oxidative Phosphorylation

J. Mayr, S. Rahman, 2016 .

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Medical Genetics.

Effects of alpha-melanocyte-stimulating hormone on mitochondrial energy metabolism in rats of different age-groups

E. Pétervári, M. Balaskó, Barbara Kofler, 2017, Neuropeptides.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Robert W. Taylor, Alexis A. Jourdain, V. Mootha, 2017, American journal of human genetics.

Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis

S. Wessler, T. Cover, W. Sperl, 2017, Oxidative medicine and cellular longevity.

Deficiency of respiratory chain complex I in Hashimoto thyroiditis.

A. Trost, W. Sperl, B. Kofler, 2016, Mitochondrion.

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

W. Schmidt, W. Sperl, M. Freilinger, 2022, Orphanet Journal of Rare Diseases.

How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

L. Vissers, A. Hoischen, H. Prokisch, 2022, Journal of inherited metabolic disease.

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

S. Wortmann, E. Boltshauser, J. Altmüller, 2020, Genetics in Medicine.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

T. Meitinger, T. Strom, H. Prokisch, 2016, American journal of human genetics.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

E. Bertini, R. Carrozzo, H. Prokisch, 2022, American journal of human genetics.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

M. Baumgartner, T. Wieland, T. Meitinger, 2012, American journal of human genetics.

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

K. Vesela, M. Tesařová, J. Zeman, 2012, Journal of Inherited Metabolic Disease.

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

A. Ribes, P. Briones, W. Sperl, 2009, Journal of Inherited Metabolic Disease.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

Robert W. Taylor, S. Dimauro, D. Turnbull, 2006 .

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.

H. Prokisch, T. Haack, S. Boesch, 2020, European journal of medical genetics.

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.

S. Mane, T. Nägele, T. Meitinger, 2020, American journal of human genetics.

Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

T. Arnesen, E. Boltshauser, Rasmus Ree, 2020, BMC Medical Genetics.

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

H. Prokisch, S. Hanein, A. Rötig, 2018, American journal of human genetics.

Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report

Y. Okazaki, Y. Kishita, A. Ohtake, 2019, Clinical case reports.

The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease.

G. Hajnóczky, N. Sondheimer, E. Ligeti, 2015, Biochemical and biophysical research communications.

Spectrum of combined respiratory chain defects

T. Meitinger, H. Prokisch, T. Haack, 2015, Journal of Inherited Metabolic Disease.

S. Wortmann, J. Mayr, 2019, Journal of inherited metabolic disease.

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

H. Prokisch, J. Hentschel, A. Gropman, 2022, Nutrients.

Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy

S. Weis, J. Mayr, H. Duba, 2021, Frontiers in Pediatrics.

Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

S. Wortmann, J. Mayr, E. Canda, 2017, JIMD reports.

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

H. Prokisch, T. Haack, U. Ahting, 2015, Orphanet Journal of Rare Diseases.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

T. Meitinger, T. Strom, H. Prokisch, 2017 .

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Robert W. Taylor, D. Turnbull, M. Zeviani, 2006, Brain : a journal of neurology.

Mitochondriopathien

J. Mayr, P. Freisinger, D. Karall, 2011, Monatsschrift Kinderheilkunde.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

R. Ganetzky, H. Prokisch, E. Eklund, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I.

John O. Prior, O. Braissant, M. Caterino, 2021, Molecular genetics and metabolism.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Robert W. Taylor, H. Prokisch, N. Hauser, 2015, Journal of Inherited Metabolic Disease.

Hydrogen Sulfide Metabolizing Enzymes in the Intestinal Mucosa in Pediatric and Adult Inflammatory Bowel Disease

B. Kofler, D. Neureiter, E. Klieser, 2022, Antioxidants.

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

F. Lindbichler, C. Mache, B. Plecko, 2009, Molecular genetics and metabolism.

Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease

D. Timmann, N. Brüggemann, M. Synofzik, 2022, Movement disorders : official journal of the Movement Disorder Society.

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

A. Ribes, R. Artuch, N. Darín, 2016, Brain : a journal of neurology.

Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect

H. Prokisch, R. Rodenburg, W. Sperl, 2010, Neuropediatrics.

Molecular and clinical spectra of FBXL4 deficiency

W. Chan, H. Prokisch, F. Alkuraya, 2017, Human mutation.

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

V. Petruzzella, J. Smeitink, L. P. Van den Heuvel, 2003, Journal of Inherited Metabolic Disease.

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

T. Meitinger, T. Strom, H. Prokisch, 2013, Journal of Inherited Metabolic Disease.

Functional Differences between Mitochondrial Haplogroup T and Haplogroup H in HEK293 Cybrid Cells

W. Sperl, B. Kofler, J. Mayr, 2012, PloS one.

Treatable mitochondrial diseases: cofactor metabolism and beyond.

H. Prokisch, S. Wortmann, T. Haack, 2017, Brain : a journal of neurology.

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.

H. Prokisch, T. Haack, U. Ahting, 2011, American journal of human genetics.

The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.

Madalena Barroso, C. Cudalbu, S. Gersting, 2021, Molecular genetics and metabolism.

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism

R. Horvath, D. Pongratz, L. Møller, 2005, Journal of Inherited Metabolic Disease.

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

M. Tesařová, J. Zeman, S. Kmoch, 2010, Archives of Disease in Childhood.

Identification of a novel, Ca2+‐dependent phospholipase D with preference for phosphatidylserine and phosphatidylethanolamine in Saccharomyces cerevisiae

S. Kohlwein, F. Paltauf, J. Mayr, 1996, FEBS letters.

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

E. Holme, J. Zeman, J. Houštěk, 2006, Neuromuscular Disorders.

Severe DGUOK Deficiency in Austria: A Six-Patient Series.

A. Janecke, T. Müller, J. Vodopiutz, 2018, Journal of pediatric gastroenterology and nutrition.

Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq.

H. Prokisch, J. Mayr, R. Kopajtich, 2017, Methods in molecular biology.

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Michaela Frye, Richard Durbin, Holger Prokisch, 2016, Nature Communications.

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.

W. Yue, H. Steinbeisser, A. Deutschmann, 2014, Human molecular genetics.

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Robert W. Taylor, M. Minczuk, T. Wieland, 2013, American journal of human genetics.

Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA.

W. Sperl, B. Kofler, J. Mayr, 2012, Biochemical and biophysical research communications.

Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.

A. Janecke, T. Müller, J. Vodopiutz, 2019, Journal of pediatric gastroenterology and nutrition.

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Vicente A. Yépez, H. Prokisch, R. Rodenburg, 2019, American journal of human genetics.

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

T. Meitinger, T. Strom, H. Prokisch, 2017, Oxidative medicine and cellular longevity.

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Marni J. Falk, T. Wieland, T. Meitinger, 2013, American journal of human genetics.

Alterations of oxidative phosphorylation complexes in astrocytomas

S. Weis, W. Sperl, B. Kofler, 2014, Glia.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

R. Pfundt, V. Shashi, T. Kleefstra, 2021, American journal of medical genetics. Part A.

A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome

S. Wortmann, J. Mayr, R. Feichtinger, 2022, Genes.

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

N. Jones, W. Sperl, B. Kofler, 2010, BMC Cancer.

From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.

P. Huppke, M. Schubach, J. Gärtner, 2015, Mitochondrion.

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.

T. Meitinger, H. Prokisch, T. Haack, 2011, Molecular genetics and metabolism.

Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes

Robert W. Taylor, H. Fuchs, W. Wurst, 2021, EMBO molecular medicine.

The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.

W. Sperl, S. Reuter, S. Zierz, 2004, Mitochondrion.

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

T. Wieland, T. Meitinger, T. Strom, 2012, Journal of Inherited Metabolic Disease.

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

H. Prokisch, C. Fauth, T. Pippucci, 2018, Journal of Medical Genetics.

Free threonine in human breast milk is related to infant intestinal microbiota composition

S. Trajanoski, N. Schweighofer, J. Mayr, 2021, Amino Acids.

Characterization and Function in Vivo of Two Novel Phospholipases B/Lysophospholipases fromSaccharomyces cerevisiae *

S. Kohlwein, O. Merkel, F. Paltauf, 1999, The Journal of Biological Chemistry.

Loss of Complex I due to Mitochondrial DNA Mutations in Renal Oncocytoma

D. Meierhofer, W. Sperl, B. Kofler, 2008, Clinical Cancer Research.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Robert W. Taylor, D. Fisk, R. Weintraub, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Robert W. Taylor, W. Chung, D. Fisk, 2021, Genetics in Medicine.

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

Dean P. Jones, Petar Glažar, N. Rajewsky, 2021, Nature Communications.

Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism

D. Meierhofer, W. Sperl, B. Kofler, 2006, British Journal of Cancer.

Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model

W. Sperl, B. Kofler, D. Neureiter, 2015, PloS one.

Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma.

D. Meierhofer, A. Berger, W. Sperl, 2004, Carcinogenesis.

Serine Catabolism Feeds NADH when Respiration Is Impaired.

E. White, J. Rabinowitz, Cholsoon Jang, 2020, Cell metabolism.

Additional file 14

S. Seneca, P. Divina, M. Tesařová, 2012 .

Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors.

S. Weis, W. Sperl, B. Kofler, 2016, Neuro-oncology.

PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy

A. Rötig, S. Lyonnet, J. Amiel, 2018, Archives of Cardiovascular Diseases Supplements.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Alexander Hoischen, Arnold Munnich, Ron A Wevers, 2018, American journal of human genetics.

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Michael T. Zimmermann, Nikita R. Dsouza, A. Green, 2020, Genetics in Medicine.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

T. Meitinger, T. Strom, H. Prokisch, 2016, Neuropediatrics.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

M. Carl, I. Harting, T. Meitinger, 2016, American journal of human genetics.

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

T. Meitinger, T. Strom, H. Prokisch, 2018, Neuropediatrics.

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

J. Lupski, S. Ellard, W. Yoon, 2020, bioRxiv.

Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism

H. Prokisch, S. Wortmann, J. Mayr, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

R. Wolthuis, M. Speicher, Q. Waisfisz, 2022, Science advances.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

H. Prokisch, R. Jech, R. Rodenburg, 2021, Annals of neurology.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.

H. Prokisch, S. Wortmann, G. Geddes, 2021, Molecular genetics and metabolism.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

T. Strom, H. Prokisch, P. Charbel Issa, 2021, The Journal of clinical investigation.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Robert W. Taylor, Courtney E. French, A. Pagnamenta, 2018, American Journal of Human Genetics.

Diagnostic Work Up in A Patient with A Progressive Cardio-/Encephalomyopathy, Peripheral Neuropathy and Respiratory Stridor

S. Wortmann, D. Karall, J. Mayr, 2018, Biomedical Journal of Scientific & Technical Research.

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era

H. Prokisch, S. Wortmann, W. Sperl, 2017, Neuropediatrics.

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

S. Kohlwein, Hanns Lochmüller, R. Horvath, 2007, American journal of human genetics.

Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

T. Meitinger, T. Strom, H. Prokisch, 2019, Journal of inherited metabolic disease.

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

J. Christodoulou, H. Venselaar, R. Wevers, 2021, Genetics in Medicine.

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children

R. Horvath, B. Schoser, B. Czermin, 2011, Neuromuscular Disorders.

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders

M. Rauh, A. Ekici, M. Reuter, 2014, American journal of medical genetics. Part 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

C. Fauth, J. Zschocke, W. Sperl, 2012, Neuropediatrics.

Reduced Respiratory Control with ADP and Changed Pattern of Respiratory Chain Enzymes as a Result of Selective Deficiency of the Mitochondrial ATP Synthase

J. Houštěk, W. Sperl, P. Pecina, 2004, Pediatric Research.

Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families

R. Rossi, A. Janecke, T. Müller, 2021, Children.

The genotypic and phenotypic spectrum of MTO1 deficiency

Robert W. Taylor, C. Ross, W. Wasserman, 2018, Molecular genetics and metabolism.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Thomas Meitinger, Nathalie Boddaert, Robert Barouki, 2017, American journal of human genetics.

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Colin A. Johnson, E. R. Baumgartner, T. Meitinger, 2016, American journal of human genetics.

Delineating MT-ATP6-associated disease

Marni J. Falk, R. Ganetzky, H. Prokisch, 2020, Neurology. Genetics.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

E. Bertini, T. Meitinger, T. Strom, 2015, American journal of human genetics.

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

K. Hejzlarová, M. Tesařová, M. Vrbacký, 2008, Nature Genetics.

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

V. Kaplanová, V. Havlíčková, J. Houštěk, 2010, Human molecular genetics.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2015, Front. Genet..

Lipoic acid biosynthesis defects

F. Tort, A. Ribes, W. Sperl, 2014, Journal of Inherited Metabolic Disease.

Danon disease: Case report and detection of new mutation

H. Budka, H. Bernheimer, W. Pickl, 2009, Journal of Inherited Metabolic Disease.

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

H. Prokisch, W. Yue, S. Banka, 2014, Molecular genetics and metabolism.

Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer

H. Klocker, G. Schäfer, B. Kofler, 2018, Oxidative medicine and cellular longevity.

Mitochondrial Haplogroups and Control Region Polymorphisms Are Not Associated with Prostate Cancer in Middle European Caucasians

H. Klocker, B. Paulweber, W. Horninger, 2009, PloS one.

Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease

W. Sperl, B. Kofler, D. Neureiter, 2022, Oxidative Medicine and Cellular Longevity.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

H. Prokisch, U. Löbel, T. Haack, 2017, Mitochondrion.

Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations.

D. Meierhofer, W. Sperl, B. Kofler, 2005, Mitochondrion.

Lack of complex I is associated with oncocytic thyroid tumours

B. Alinger, W. Eder, N. Jones, 2009, British Journal of Cancer.

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

H. Prokisch, J. Mayr, H. Duba, 2021, Bone reports.

From isolated neuropathy to early onset neurodegeneration

R. Ganetzky, H. Prokisch, L. Schöls, 2022 .

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Robert W. Taylor, R. Durbin, T. Wieland, 2015, Annals of clinical and translational neurology.

Loss of mitochondria in ganglioneuromas.

F. Berthold, N. Jones, W. Sperl, 2011, Frontiers in bioscience.

W. Sperl, B. Kofler, D. Weghuber, 2020, Oxidative medicine and cellular longevity.

Changes in the expression of oxidative phosphorylation complexes in the aging intestinal mucosa

B. Kofler, D. Neureiter, E. Klieser, 2020, Experimental Gerontology.

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing

R. Płoski, M. Pronicki, J. Książyk, 2016, Molecular genetics and metabolism reports.

Clinical , biochemical , and genetic spectrum of seven patients with NFU 1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2017 .

GAL3 receptor KO mice exhibit an anxiety-like phenotype

X. Navarro, G. Sperk, B. Kofler, 2014, Proceedings of the National Academy of Sciences.

Acute Flaccid Paralysis as Initial Symptom in 4 Patients with Novel E1α Mutations of the Pyruvate Dehydrogenase Complex

E. Boltshauser, W. Sperl, H. Strassburg, 2006, Neuropediatrics.

Mitochondrial Haplogroups and Control Region Polymorphisms in Age-Related Macular Degeneration: A Case-Control Study

W. Eder, W. Sperl, B. Kofler, 2012, PloS one.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

Nicolas A. Dumont, K. Kandaswamy, T. Strom, 2019, Genetics in Medicine.

MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

M. Rudnicki, H. Antretter, G. Mayer, 2016, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma

B. Kofler, D. Neureiter, T. Kiesslich, 2019, Cells.

Mitochondrial DNA mutation “m.3243A>G”—Heterogeneous clinical picture for cardiologists (“m.3243A>G”: A phenotypic chameleon)

C. Fauth, D. Karall, W. Sperl, 2018, Congenital heart disease.

Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study

B. Paulweber, W. Renner, M. Weger, 2009, BMC Medical Genetics.

TMEM70 deficiency: long-term outcome of 48 patients

E. Bertini, H. Mandel, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Katrien Stouffs, Melanie Bahlo, Holger Prokisch, 2016, American journal of human genetics.

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

H. Prokisch, T. Haack, O. Bodamer, 2011, Molecular genetics and metabolism.

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy

G. Pruijn, J. Veltman, H. Prokisch, 2017, Human mutation.

Isolated defects of mitochondrial ATP synthase: overview of 15 cases.

J. Zeman, J. Houštěk, W. Sperl, 2005 .

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

T. Meitinger, V. Tiranti, M. Zeviani, 2011, Journal of Medical Genetics.

Alterations of Oxidative Phosphorylation Complexes in Papillary Thyroid Carcinoma

W. Sperl, B. Kofler, D. Neureiter, 2018, Cells.

3-Methylglutaconic Acidurias

S. Wortmann, J. Mayr, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

The Switch in the Diagnosis of Mitochondrial Diseases from the Classical ‘Function First’ To the NGS-based ‘Genetics First’ Diagnostic Era

S. Wortmann, W. Sperl, J. Mayr, 2020, Journal of mother and child.

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene

Ž. Reiner, W. Sperl, Zoran Mitrović, 2012, European Journal of Human Genetics.

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

H. Prokisch, R. Rodenburg, R. Houtkooper, 2016, JIMD reports.

Severe depletion of mitochondrial DNA in spinal muscular atrophy

H. Budka, M. Huemer, D. Meierhofer, 2003, Acta Neuropathologica.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease

E. Trinka, S. Wortmann, F. Rossini, 2023, Frontiers in Neurology.

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

H. Houlden, S. Heales, A. Pittman, 2019, Journal of clinical medicine.

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

D. Prayer, A. Mégarbané, D. Wieczorek, 2015, Human mutation.

Platelet transfusion can mimic somatic mtDNA mutations

D. Meierhofer, N. Jones, W. Sperl, 2006, Leukemia.

CAD mutations and uridine-responsive epileptic encephalopathy

T. Meitinger, T. Strom, H. Prokisch, 2017, Brain : a journal of neurology.

A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder

S. Wortmann, E. Rapp, C. Thiel, 2021, EMBO molecular medicine.

Mitochondrial Haplogroups, Control Region Polymorphisms and Malignant Melanoma: A Study in Middle European Caucasians

B. Paulweber, W. Eder, W. Sperl, 2011, PloS one.

The Mitochondrial T16189C Polymorphism Is Associated with Coronary Artery Disease in Middle European Populations

B. Paulweber, B. Iglseder, W. Eder, 2011, PloS one.

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants

S. Grünert, R. Korinthenberg, J. Mayr, 2020, Neuropediatrics.

Molekulare und funktionale Abklärung hereditärer Schwerhörigkeiten am Beispiel des SLC26A4-Gens

G. Rasp, S. Wortmann, S. Roesch, 2020, Laryngo-Rhino-Otologie.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

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

S. Seneca, P. Divina, M. Tesařová, 2008, BMC Genomics.

A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse

H. Fuchs, T. Meitinger, W. Wurst, 2021, Mammalian Genome.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

R. Wevers, S. Wortmann, E. Boltshauser, 2020, Genetics in Medicine.

Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine

S. Wortmann, J. Mayr, R. Bittner, 2022, Neuropediatrics.

Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene

W. Sperl, A. Doronjski, V. Stojanović, 2013, Croatian medical journal.

Case Report—An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions

S. Wortmann, J. Mayr, R. Feichtinger, 2023, Genes.

Investigating the role of ASCC1 in the causation of bone fragility

H. Prokisch, S. Wortmann, B. V. D. van der Eerden, 2023, Frontiers in Endocrinology.

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

B. Ertl-Wagner, H. Bolz, E. Boltshauser, 2016, European journal of medical genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress

S. Kimeswenger, F. Rauch, M. Haun, 2023, EMBO molecular medicine.

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.

H. Prokisch, M. Hempel, I. Wittig, 2023, Molecular genetics and metabolism.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

N. Stence, K. Haldar, M. Ugarte, 2022, Human molecular genetics.

The genotypic and phenotypic spectrum of MTO1 deficiency

C. Ross, W. Wasserman, H. Prokisch, 2018, Molecular genetics and metabolism.

Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups

B. Paulweber, D. Meierhofer, W. Sperl, 2006, Electrophoresis.

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A. Munnich, S. Bohlander, W. Wurst, 2021, Annals of neurology.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

M. Baumgartner, T. Wieland, T. Meitinger, 2012, American journal of human genetics.

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

C. Fauth, D. Meierhofer, J. Zschocke, 2011, American journal of human genetics.

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

S. Wortmann, J. Jans, J. Mayr, 2023, Metabolites.

Additional file 12

John Herbert, Francesca M. Buffa, Henrik Vorschmitt, 2008 .

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

T. Wieland, T. Meitinger, T. Strom, 2014, Molecular genetics and metabolism.