| Year |
Citation |
Score |
| 2023 |
van der Ven AT, Cabrera-Orefice A, Wente I, Feichtinger RG, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr JA, Hempel M, Wittig I. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease. Molecular Genetics and Metabolism. 140: 107675. PMID 37572574 DOI: 10.1016/j.ymgme.2023.107675 |
0.317 |
|
| 2023 |
Astner-Rohracher A, Mauritz M, Leitinger M, Rossini F, Kalss G, Neuray C, Retter E, Wortmann SB, Achleitner MT, Mayr JA, Trinka E. A case report: New-onset refractory status epilepticus in a patient with -related mitochondrial disease. Frontiers in Neurology. 13: 1063733. PMID 36712458 DOI: 10.3389/fneur.2022.1063733 |
0.325 |
|
| 2023 |
Oswald S, Steinbruecker K, Achleitner M, Goeschl E, Bittner R, Schmidt W, Tiefenthaler E, Hammerl E, Eisl A, Mayr D, Mayr JA, Wortmann SB. TREATMENT OF MITOCHONDRIAL PHENYLALANYL-TRNA-SYNTHETASE DEFICIENCY (FARS2) WITH ORAL PHENYLALANINE. Neuropediatrics. PMID 36603837 DOI: 10.1055/a-2008-4230 |
0.335 |
|
| 2022 |
Bölsterli BK, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman AL, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, ... ... Mayr JA, et al. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients. 14. PMID 36079864 DOI: 10.3390/nu14173605 |
0.329 |
|
| 2022 |
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, ... ... Mayr JA, et al. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. American Journal of Human Genetics. 109: 1692-1712. PMID 36055214 DOI: 10.1016/j.ajhg.2022.07.007 |
0.433 |
|
| 2022 |
Cordts I, Semmler L, Prasuhn J, Seibt A, Herebian D, Navaratnarajah T, Park J, Deininger N, Laugwitz L, Göricke SL, Lingor P, Brüggemann N, Münchau A, Synofzik M, Timmann D, ... Mayr JA, et al. Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 36047608 DOI: 10.1002/mds.29167 |
0.361 |
|
| 2021 |
Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, ... ... Mayr JA, et al. Variants in mitochondrial ATP synthase cause variable neurologic phenotypes. Annals of Neurology. PMID 34954817 DOI: 10.1002/ana.26293 |
0.357 |
|
| 2021 |
Vidali S, Gerlini R, Thompson K, Urquhart JE, Meisterknecht J, Aguilar-Pimentel JA, Amarie OV, Becker L, Breen C, Calzada-Wack J, Chhabra NF, Cho YL, da Silva-Buttkus P, Feichtinger RG, Gampe K, ... ... Mayr JA, et al. Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. Embo Molecular Medicine. e14397. PMID 34750991 DOI: 10.15252/emmm.202114397 |
0.333 |
|
| 2021 |
Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, ... ... Mayr JA, et al. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34140661 DOI: 10.1038/s41436-021-01194-x |
0.32 |
|
| 2021 |
Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK. Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Molecular Genetics and Metabolism. PMID 34140213 DOI: 10.1016/j.ymgme.2021.06.001 |
0.417 |
|
| 2021 |
Kušíková K, Feichtinger RG, Csillag B, Kalev OK, Weis S, Duba HC, Mayr JA, Weis D. Case Report and Review of the Literature: A New and a Recurrent Variant in the Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy. Frontiers in Pediatrics. 9: 660076. PMID 33937156 DOI: 10.3389/fped.2021.660076 |
0.338 |
|
| 2021 |
Yap ZY, Park YH, Wortmann SB, Gunning AC, Ezer S, Lee S, Duraine L, Wilichowski E, Wilson K, Mayr JA, Wagner M, Li H, Kini U, Black ED, Monaghan KG, et al. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Medicine. 13: 55. PMID 33845882 DOI: 10.1186/s13073-021-00873-3 |
0.387 |
|
| 2021 |
Stenton SL, Sheremet NL, Catarino CB, Andreeva N, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov IO, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, ... ... Mayr JA, et al. Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. The Journal of Clinical Investigation. PMID 33465056 DOI: 10.1172/JCI138267 |
0.414 |
|
| 2020 |
Žigman T, Šikić K, Petković Ramadža D, Mayr J, Wortmann S, Prokisch H, Ninković D, Dilber D, Šarić D, Rubić F, Galić S, Slaviček J, Belina D, Fumić K, Barić I. ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis. Journal of Pediatric Endocrinology & Metabolism : Jpem. 34: 389-393. PMID 33180048 DOI: 10.1515/jpem-2020-0396 |
0.318 |
|
| 2020 |
Schneider AM, Özsoy M, Zimmermann FA, Feichtinger RG, Mayr JA, Kofler B, Sperl W, Weghuber D, Mörwald K. Age-Related Deterioration of Mitochondrial Function in the Intestine. Oxidative Medicine and Cellular Longevity. 2020: 4898217. PMID 32922652 DOI: 10.1155/2020/4898217 |
0.421 |
|
| 2020 |
Illsinger S, Korenke GC, Boesch S, Nocker M, Karall D, Nuoffer JM, Laugwitz L, Mayr JA, Scholl-Bürgi S, Freisinger P, Kowald T, Kölker S, Prokisch H, Haack TB. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. European Journal of Medical Genetics. 63: 104046. PMID 32858208 DOI: 10.1016/J.Ejmg.2020.104046 |
0.425 |
|
| 2020 |
Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, ... ... Mayr JA, et al. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. American Journal of Human Genetics. PMID 32707086 DOI: 10.1016/J.Ajhg.2020.06.015 |
0.375 |
|
| 2020 |
Yang L, Garcia Canaveras JC, Chen Z, Wang L, Liang L, Jang C, Mayr JA, Zhang Z, Ghergurovich JM, Zhan L, Joshi S, Hu Z, McReynolds MR, Su X, White E, et al. Serine Catabolism Feeds NADH when Respiration Is Impaired. Cell Metabolism. PMID 32187526 DOI: 10.1016/J.Cmet.2020.02.017 |
0.397 |
|
| 2020 |
Özsoy M, Zimmermann FA, Feichtinger RG, Mayr JA, Kofler B, Neureiter D, Klieser E, Schütz S, Weghuber D, Schneider AM. Changes in the expression of oxidative phosphorylation complexes in the aging intestinal mucosa. Experimental Gerontology. 135: 110924. PMID 32173460 DOI: 10.1016/J.Exger.2020.110924 |
0.373 |
|
| 2020 |
Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, et al. Delineating -associated disease: From isolated neuropathy to early onset neurodegeneration. Neurology. Genetics. 6: e393. PMID 32042921 DOI: 10.1212/Nxg.0000000000000393 |
0.475 |
|
| 2019 |
Gusic M, Schottmann G, Feichtinger RG, Du C, Scholz C, Wagner M, Mayr JA, Lee CY, Yépez VA, Lorenz N, Morales-Gonzalez S, Panneman DM, Rötig A, Rodenburg RJT, Wortmann SB, et al. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. American Journal of Human Genetics. PMID 31883641 DOI: 10.1016/j.ajhg.2019.12.005 |
0.461 |
|
| 2019 |
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, ... ... Mayr JA, et al. Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31761904 DOI: 10.1038/S41436-019-0698-4 |
0.353 |
|
| 2019 |
Ni Y, Hagras MA, Konstantopoulou V, Mayr JA, Stuchebrukhov AA, Meierhofer D. Mutations in Cause Metabolic Reprogramming and Disruption of the Electron Transfer. Cells. 8. PMID 31557978 DOI: 10.3390/Cells8101149 |
0.602 |
|
| 2019 |
Bugiardini E, Pope S, Feichtinger RG, Poole OV, Pittman AM, Woodward CE, Heales S, Quinlivan R, Houlden H, Mayr JA, Hanna MG, Pitceathly RDS. Utility of Whole Blood Thiamine Pyrophosphate Evaluation in -Related Diseases. Journal of Clinical Medicine. 8. PMID 31288420 DOI: 10.3390/Jcm8070991 |
0.445 |
|
| 2019 |
Feichtinger RG, Neureiter D, Kemmerling R, Mayr JA, Kiesslich T, Kofler B. Low VDAC1 Expression Is Associated with an Aggressive Phenotype and Reduced Overall Patient Survival in Cholangiocellular Carcinoma. Cells. 8. PMID 31167495 DOI: 10.3390/Cells8060539 |
0.423 |
|
| 2019 |
Wagner M, Berutti R, Lorenz-Depiereux B, Graf E, Eckstein G, Mayr JA, Meitinger T, Ahting U, Prokisch H, Strom TM, Wortmann SB. Mitochondrial DNA mutation analysis from exome sequencing - a more holistic approach in diagnostics of suspected mitochondrial disease. Journal of Inherited Metabolic Disease. PMID 31059585 DOI: 10.1002/jimd.12109 |
0.363 |
|
| 2019 |
Hirono K, Ichida F, Nishio N, Ogawa-Tominaga M, Fushimi T, Feichtinger RG, Mayr JA, Kohda M, Kishita Y, Okazaki Y, Ohtake A, Murayama K. Mitochondrial complex deficiency by novel compound heterozygous variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report. Clinical Case Reports. 7: 553-557. PMID 30899493 DOI: 10.1002/Ccr3.2050 |
0.395 |
|
| 2019 |
Wortmann SB, Mayr JA. Choline-related-inherited metabolic diseases-A mini review. Journal of Inherited Metabolic Disease. 42: 237-242. PMID 30681159 DOI: 10.1002/Jimd.12011 |
0.326 |
|
| 2019 |
Waich S, Roscher A, Brunner-Krainz M, Cortina G, Köstl G, Feichtinger RG, Entenmann A, Müller T, Knisely AS, Mayr JA, Janecke AR, Vodopiutz J. Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series. Journal of Pediatric Gastroenterology and Nutrition. 68: e1-e6. PMID 30589726 DOI: 10.1097/Mpg.0000000000002149 |
0.479 |
|
| 2018 |
Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, ... ... Mayr JA, et al. Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. American Journal of Human Genetics. 103: 817-825. PMID 30401461 DOI: 10.1016/J.Ajhg.2018.10.005 |
0.346 |
|
| 2018 |
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Mayr JA, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 9: 4619. PMID 30397230 DOI: 10.1038/S41467-018-06014-6 |
0.391 |
|
| 2018 |
Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, ... ... Mayr JA, et al. Biallelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. American Journal of Human Genetics. PMID 30245030 DOI: 10.1016/J.Ajhg.2018.08.013 |
0.443 |
|
| 2018 |
Waich S, Roscher A, Brunner-Krainz M, Cortina G, Köstl G, Feichtinger RG, Entenmann A, Müller T, Knisely AS, Mayr JA, Janecke AR, Vodopiutz J. Severe DGUOK Deficiency in Austria: A Six-Patient Series. Journal of Pediatric Gastroenterology and Nutrition. PMID 30234759 DOI: 10.1097/MPG.0000000000002149 |
0.396 |
|
| 2018 |
Niedermayr K, Pölzl G, Scholl-Bürgi S, Fauth C, Schweigmann U, Haberlandt E, Albrecht U, Zlamy M, Sperl W, Mayr JA, Karall D. Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon). Congenital Heart Disease. 13: 671-677. PMID 30133155 DOI: 10.1111/chd.12634 |
0.357 |
|
| 2018 |
Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, ... ... Mayr JA, et al. Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. Journal of Medical Genetics. PMID 30120216 DOI: 10.1136/Jmedgenet-2018-105441 |
0.37 |
|
| 2018 |
Kovacs-Nagy R, Morin G, Nouri MA, Brandau O, Saadi NW, Nouri MA, van den Broek F, Prokisch H, Mayr JA, Wortmann SB. 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. Neuropediatrics. 49: 373-378. PMID 30114719 DOI: 10.1055/S-0038-1667345 |
0.451 |
|
| 2018 |
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, ... ... Mayr JA, et al. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet Journal of Rare Diseases. 13: 120. PMID 30025539 DOI: 10.1186/S13023-018-0784-8 |
0.501 |
|
| 2018 |
Alhaddad B, Schossig A, Haack TB, Kovács-Nagy R, Braunisch MC, Makowski C, Senderek J, Vill K, Müller-Felber W, Strom TM, Krabichler B, Freisinger P, Deshpande C, Polster T, Wolf NI, ... ... Mayr JA, et al. PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. Neuropediatrics. PMID 29940663 DOI: 10.1055/S-0038-1661396 |
0.374 |
|
| 2018 |
Zimmermann FA, Neureiter D, Sperl W, Mayr JA, Kofler B. Alterations of Oxidative Phosphorylation Complexes in Papillary Thyroid Carcinoma. Cells. 7. PMID 29747424 DOI: 10.3390/Cells7050040 |
0.452 |
|
| 2018 |
Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, ... ... Mayr JA, et al. Biallelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. American Journal of Human Genetics. PMID 29576219 DOI: 10.1016/J.Ajhg.2018.02.012 |
0.541 |
|
| 2018 |
Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, ... ... Mayr JA, et al. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. American Journal of Human Genetics. PMID 29478781 DOI: 10.1016/J.Ajhg.2018.01.020 |
0.445 |
|
| 2018 |
Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, ... ... Mayr JA, et al. NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. American Journal of Human Genetics. 102: 460-467. PMID 29429571 DOI: 10.1016/J.Ajhg.2018.01.008 |
0.524 |
|
| 2018 |
O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, ... ... Mayr JA, et al. The genotypic and phenotypic spectrum of MTO1 deficiency. Molecular Genetics and Metabolism. 123: 28-42. PMID 29331171 DOI: 10.1016/J.Ymgme.2017.11.003 |
0.433 |
|
| 2018 |
Zlamy M, Scholl-Bürgi S, Hetzer B, Zellner H, Karall T, MathiasBauman, Mayr J, Nagy RK, Wortmann S, Karall D. Diagnostic Work Up in A Patient with A Progressive Cardio-/Encephalomyopathy, Peripheral Neuropathy and Respiratory Stridor Biomedical Journal of Scientific and Technical Research. 5: 1-4. DOI: 10.26717/Bjstr.2018.05.001209 |
0.313 |
|
| 2017 |
Wortmann SB, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait D, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, ... ... Mayr JA, et al. Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases. Annals of Neurology. PMID 29205472 DOI: 10.1002/Ana.25110 |
0.372 |
|
| 2017 |
Feichtinger RG, Lang R, Geilberger R, Rathje F, Mayr JA, Sperl W, Bauer JW, Hauser-Kronberger C, Kofler B, Emberger M. Melanoma tumors exhibit a variable but distinct metabolic signature. Experimental Dermatology. PMID 29131438 DOI: 10.1111/Exd.13465 |
0.375 |
|
| 2017 |
Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, ... ... Mayr JA, et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. American Journal of Human Genetics. PMID 28942965 DOI: 10.1016/J.Ajhg.2017.08.015 |
0.545 |
|
| 2017 |
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, ... ... Mayr JA, et al. Molecular and clinical spectra of FBXL4 deficiency. Human Mutation. PMID 28940506 DOI: 10.1002/Humu.23341 |
0.487 |
|
| 2017 |
Wortmann SB, Timal S, Venselaar H, Wintjes LT, Kopajtich R, Feichtinger RG, Onnekink C, Mühlmeister M, Brandt U, Smeitink JA, Veltman JA, Sperl W, Lefeber D, Pruijn G, Stojanovic V, ... ... Mayr JA, et al. Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy. Human Mutation. PMID 28905505 DOI: 10.1002/Humu.23340 |
0.525 |
|
| 2017 |
Feichtinger RG, Brunner-Krainz M, Alhaddad B, Wortmann SB, Kovacs-Nagy R, Stojakovic T, Erwa W, Resch B, Windischhofer W, Verheyen S, Uhrig S, Windpassinger C, Locker F, Makowski C, Strom TM, ... ... Mayr JA, et al. Combined Respiratory Chain Deficiency and Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. Oxidative Medicine and Cellular Longevity. 2017: 7202589. PMID 28804536 DOI: 10.1155/2017/7202589 |
0.425 |
|
| 2017 |
Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, ... ... Mayr JA, et al. Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. American Journal of Human Genetics. 101: 283-290. PMID 28757203 DOI: 10.1016/J.Ajhg.2017.07.001 |
0.482 |
|
| 2017 |
Feichtinger RG, Neureiter D, Skaria T, Wessler S, Cover TL, Mayr JA, Zimmermann FA, Posselt G, Sperl W, Kofler B. Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis. Oxidative Medicine and Cellular Longevity. 2017: 1320241. PMID 28744336 DOI: 10.1155/2017/1320241 |
0.319 |
|
| 2017 |
Hempel M, Kremer LS, Tsiakas K, Alhaddad B, Haack TB, Löbel U, Feichtinger RG, Sperl W, Prokisch H, Mayr JA, Santer R. LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. Mitochondrion. 37: 55-61. PMID 28694194 DOI: 10.1016/J.Mito.2017.07.001 |
0.462 |
|
| 2017 |
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, ... ... Mayr JA, et al. Genetic diagnosis of Mendelian disorders via RNA sequencing. Nature Communications. 8: 15824. PMID 28604674 DOI: 10.1038/Ncomms15824 |
0.353 |
|
| 2017 |
Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W. A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. Neuropediatrics. 48: 309-314. PMID 28599323 DOI: 10.1055/S-0037-1603776 |
0.413 |
|
| 2017 |
Kopajtich R, Mayr JA, Prokisch H. Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq. Methods in Molecular Biology (Clifton, N.J.). 1567: 379-390. PMID 28276031 DOI: 10.1007/978-1-4939-6824-4_23 |
0.432 |
|
| 2017 |
Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H. Treatable mitochondrial diseases: cofactor metabolism and beyond. Brain : a Journal of Neurology. 140: e11. PMID 27993888 DOI: 10.1093/Brain/Aww303 |
0.462 |
|
| 2017 |
Ucar SK, Mayr JA, Feichtinger RG, Canda E, Çoker M, Wortmann SB. Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? Jimd Reports. 35: 39-45. PMID 27928778 DOI: 10.1007/8904_2016_23 |
0.313 |
|
| 2016 |
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, et al. CAD mutations and uridine-responsive epileptic encephalopathy. Brain : a Journal of Neurology. PMID 28007989 DOI: 10.1093/Brain/Aww300 |
0.356 |
|
| 2016 |
Rudnicki M, Mayr JA, Zschocke J, Antretter H, Regele H, Feichtinger RG, Windpessl M, Mayer G, Pölzl G. MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. PMID 27683045 DOI: 10.1053/J.Ajkd.2016.06.027 |
0.475 |
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| 2016 |
Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, ... ... Mayr JA, et al. NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. American Journal of Human Genetics. PMID 27616477 DOI: 10.1055/S-0037-1602906 |
0.42 |
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| 2016 |
Feichtinger RG, Pétervári E, Zopf M, Vidali S, Aminzadeh-Gohari S, Mayr JA, Kofler B, Balaskó M. Effects of alpha-melanocyte-stimulating hormone on mitochondrial energy metabolism in rats of different age-groups. Neuropeptides. PMID 27614713 DOI: 10.1016/J.Npep.2016.08.009 |
0.369 |
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| 2016 |
Kennedy H, Haack TB, Hartill V, Mataković L, Baumgartner ER, Potter H, Mackay R, Alston CL, O'Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, Crozier I, ... ... Mayr JA, et al. Sudden Cardiac Death due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. American Journal of Human Genetics. PMID 27523597 DOI: 10.1016/J.Ajhg.2016.06.027 |
0.5 |
|
| 2016 |
Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, ... ... Mayr JA, et al. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. American Journal of Human Genetics. PMID 27426735 DOI: 10.1016/J.Ajhg.2016.05.027 |
0.41 |
|
| 2016 |
Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, ... ... Mayr JA, et al. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. American Journal of Human Genetics. PMID 27374774 DOI: 10.1016/J.Ajhg.2016.05.021 |
0.481 |
|
| 2016 |
Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, ... Mayr JA, et al. Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nature Communications. 7: 12039. PMID 27356879 DOI: 10.1038/Ncomms12039 |
0.433 |
|
| 2016 |
Olsen RK, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, ... ... Mayr JA, et al. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. American Journal of Human Genetics. 98: 1130-1145. PMID 27259049 DOI: 10.1016/J.Ajhg.2016.04.006 |
0.397 |
|
| 2016 |
Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, et al. Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. Molecular Genetics and Metabolism Reports. 7: 70-6. PMID 27144126 DOI: 10.1016/J.Ymgmr.2016.03.004 |
0.405 |
|
| 2016 |
Koch J, Feichtinger RG, Freisinger P, Pies M, Schrödl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. Journal of Medical Genetics. 53: 270-8. PMID 26783368 DOI: 10.1136/Jmedgenet-2015-103500 |
0.486 |
|
| 2016 |
Thiels C, Fleger M, Huemer M, Rodenburg RJ, Vaz FM, Houtkooper RH, Haack TB, Prokisch H, Feichtinger RG, Lücke T, Mayr JA, Wortmann SB. Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? Jimd Reports. 29: 89-93. PMID 26724946 DOI: 10.1007/8904_2015_525 |
0.354 |
|
| 2016 |
Zimmermann FA, Neureiter D, Feichtinger RG, Trost A, Sperl W, Kofler B, Mayr JA. Deficiency of respiratory chain complex I in Hashimoto thyroiditis. Mitochondrion. 26: 1-6. PMID 26554844 DOI: 10.1016/J.Mito.2015.11.002 |
0.31 |
|
| 2016 |
Koch J, Feichtinger RG, Freisinger P, Pies M, Schrödl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy Journal of Medical Genetics. 53: 270-278. DOI: 10.1136/jmedgenet-2015-103500 |
0.442 |
|
| 2016 |
Salamano E, Freisinger P, Mayr J, Hack T, Weissbrich B, Klepper J, Moser K, Heußinger N. Acute Necrotizing Encephalopathy of Childhood Associated with Primary Infection of HHV 6: An Important Differential Diagnosis of Mitochondrial Diseases Neuropediatrics. 47: 3-11. DOI: 10.1055/S-0036-1583642 |
0.386 |
|
| 2016 |
Mataković L, Feichtinger R, Sperl W, Holzerová E, Prokisch H, Haack T, Mayr JA. Cofactor deficiency in mitochondrial diseases Biochimica Et Biophysica Acta. 1857. DOI: 10.1016/J.Bbabio.2016.04.193 |
0.462 |
|
| 2016 |
Holzerová E, Olsen RKJ, Giancaspero TA, Mosegaard S, Boczonadi V, Matakovic L, Ghezzi D, Acquaviva C, Boneh A, Mayr JA, Gregersen N, Horvath R, Barile M, Prokisch H. Non-Loss-of-Function Frameshift Variants in the FAD Synthase Gene Cause Combined Respiratory Chain Deficiency Biochimica Et Biophysica Acta. 1857. DOI: 10.1016/J.Bbabio.2016.04.187 |
0.352 |
|
| 2015 |
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, et al. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. Brain : a Journal of Neurology. PMID 26657515 DOI: 10.1093/Brain/Awv342 |
0.4 |
|
| 2015 |
Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, et al. WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease. Human Mutation. PMID 26123727 DOI: 10.1002/Humu.22828 |
0.369 |
|
| 2015 |
Seifert EL, Ligeti E, Mayr JA, Sondheimer N, Hajnóczky G. The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease. Biochemical and Biophysical Research Communications. 464: 369-75. PMID 26091567 DOI: 10.1016/J.Bbrc.2015.06.031 |
0.499 |
|
| 2015 |
Morscher RJ, Aminzadeh-Gohari S, Feichtinger RG, Mayr JA, Lang R, Neureiter D, Sperl W, Kofler B. Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model. Plos One. 10: e0129802. PMID 26053068 DOI: 10.1371/Journal.Pone.0129802 |
0.362 |
|
| 2015 |
Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, ... ... Mayr JA, et al. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology. 2: 492-509. PMID 26000322 DOI: 10.1002/Acn3.189 |
0.502 |
|
| 2015 |
Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, et al. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Frontiers in Genetics. 6: 123. PMID 25918518 DOI: 10.3389/fgene.2015.00123 |
0.453 |
|
| 2015 |
Koch J, Freisinger P, Feichtinger RG, Zimmermann FA, Rauscher C, Wagentristl HP, Konstantopoulou V, Seidl R, Haack TB, Prokisch H, Ahting U, Sperl W, Mayr JA, Maier EM. Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. Orphanet Journal of Rare Diseases. 10: 40. PMID 25887401 DOI: 10.1186/S13023-015-0254-5 |
0.466 |
|
| 2015 |
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, ... ... Mayr JA, et al. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Journal of Inherited Metabolic Disease. PMID 25868664 DOI: 10.1007/S10545-015-9836-6 |
0.504 |
|
| 2015 |
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Spectrum of combined respiratory chain defects. Journal of Inherited Metabolic Disease. 38: 629-40. PMID 25778941 DOI: 10.1007/S10545-015-9831-Y |
0.482 |
|
| 2015 |
Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, ... ... Mayr JA, et al. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. American Journal of Human Genetics. 96: 309-17. PMID 25658047 DOI: 10.1016/J.Ajhg.2014.12.023 |
0.5 |
|
| 2015 |
Kettwig M, Schubach M, Zimmermann FA, Klinge L, Mayr JA, Biskup S, Sperl W, Gärtner J, Huppke P. From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1. Mitochondrion. 21: 12-8. PMID 25583628 DOI: 10.1016/J.Mito.2015.01.001 |
0.439 |
|
| 2015 |
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. Journal of Inherited Metabolic Disease. 38: 391-403. PMID 25526709 DOI: 10.1007/S10545-014-9787-3 |
0.497 |
|
| 2015 |
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Emino?lu FT, Mayr JA, Koch J, Martinelli D, et al. TMEM70 deficiency: long-term outcome of 48 patients. Journal of Inherited Metabolic Disease. 38: 417-26. PMID 25326274 DOI: 10.1007/S10545-014-9774-8 |
0.357 |
|
| 2015 |
Mayr JA. Lipid metabolism in mitochondrial membranes. Journal of Inherited Metabolic Disease. 38: 137-44. PMID 25082432 DOI: 10.1007/S10545-014-9748-X |
0.425 |
|
| 2015 |
Fleger M, Huemer M, Schlachter K, Mayr J, Sperl W, Prokisch H, Haack T, Bowron A. PP03.3 – 2376: A non-classical clinical course of Barth syndrome (BTHS) European Journal of Paediatric Neurology. 19. DOI: 10.1016/S1090-3798(15)30119-7 |
0.332 |
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| 2015 |
Freisinger P, Haack TB, Kölker S, Schülke-Gerstenfeld M, Mayr J, Klopstock T, Rodenburg R, Trollmann R, Nuoffer JM, Sperl W, Taylpr R, Krägeloh-Mann I, Meitinger T, Prokisch H. PP03.1 – 3059: Mutations in ECHS1: A defect in a multifunctional enzyme causing a mitochondrial disorder European Journal of Paediatric Neurology. 19. DOI: 10.1016/S1090-3798(15)30117-3 |
0.517 |
|
| 2015 |
Mataković L, Prokish H, Feichtinger R, Sperl W, Haack T, Mayr JA. Cofactor deficiency in mitochondrial diseases Mitochondrion. 24: 25-26. DOI: 10.1016/J.Mito.2015.07.074 |
0.451 |
|
| 2014 |
Banka S, de Goede C, Yue WW, Morris AA, von Bremen B, Chandler KE, Feichtinger RG, Hart C, Khan N, Lunzer V, Matakovi? L, Marquardt T, Makowski C, Prokisch H, Debus O, ... ... Mayr JA, et al. Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. Molecular Genetics and Metabolism. 113: 301-6. PMID 25458521 DOI: 10.1016/J.Ymgme.2014.09.010 |
0.445 |
|
| 2014 |
Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, et al. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. American Journal of Human Genetics. 95: 708-20. PMID 25434004 DOI: 10.1016/J.Ajhg.2014.10.017 |
0.548 |
|
| 2014 |
Reuter MS, Sass JO, Leis T, Köhler J, Mayr JA, Feichtinger RG, Rauh M, Schanze I, Bähr L, Trollmann R, Uebe S, Ekici AB, Reis A. HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. American Journal of Medical Genetics. Part A. 164: 3162-9. PMID 25251209 DOI: 10.1002/Ajmg.A.36766 |
0.516 |
|
| 2014 |
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, et al. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. Orphanet Journal of Rare Diseases. 9: 119. PMID 25208612 DOI: 10.1186/S13023-014-0119-3 |
0.459 |
|
| 2014 |
Mayr JA, Feichtinger RG, Tort F, Ribes A, Sperl W. Lipoic acid biosynthesis defects. Journal of Inherited Metabolic Disease. 37: 553-63. PMID 24777537 DOI: 10.1007/S10545-014-9705-8 |
0.438 |
|
| 2014 |
Deutschmann AJ, Amberger A, Zavadil C, Steinbeisser H, Mayr JA, Feichtinger RG, Oerum S, Yue WW, Zschocke J. Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts. Human Molecular Genetics. 23: 3618-28. PMID 24549042 DOI: 10.1093/Hmg/Ddu072 |
0.459 |
|
| 2014 |
Haack TB, Gorza M, Danhauser K, Mayr JA, Haberberger B, Wieland T, Kremer L, Strecker V, Graf E, Memari Y, Ahting U, Kopajtich R, Wortmann SB, Rodenburg RJ, Kotzaeridou U, et al. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Molecular Genetics and Metabolism. 111: 342-52. PMID 24461907 DOI: 10.1016/J.Ymgme.2013.12.010 |
0.477 |
|
| 2014 |
Feichtinger RG, Weis S, Mayr JA, Zimmermann F, Geilberger R, Sperl W, Kofler B. Alterations of oxidative phosphorylation complexes in astrocytomas. Glia. 62: 514-25. PMID 24446254 DOI: 10.1002/Glia.22621 |
0.312 |
|
| 2014 |
Fleger M, Huemer M, Mayr J, Sperl W, Prokisch H, Haack T, Bowron A, Huemer C, Schlachter K. A Nonclassical Clinical Course of Barth Syndrome Neuropediatrics. 45: 23. DOI: 10.1055/S-0034-1390595 |
0.329 |
|
| 2013 |
Stojanovic V, Mayr JA, Sperl W, Barišić N, Doronjski A, Milak G. Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study. Croatian Medical Journal. 54: 579-84. PMID 24382854 DOI: 10.3325/Cmj.2013.54.579 |
0.465 |
|
| 2013 |
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, ... ... Mayr JA, et al. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. American Journal of Human Genetics. 93: 482-95. PMID 23993194 DOI: 10.1016/J.Ajhg.2013.07.016 |
0.527 |
|
| 2013 |
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, ... ... Mayr JA, et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. American Journal of Human Genetics. 93: 211-23. PMID 23849775 DOI: 10.1016/J.Ajhg.2013.06.006 |
0.473 |
|
| 2013 |
Barić I, Fumić K, Petković Ramadža D, Sperl W, Zimmermann FA, Muačević-Katanec D, Mitrović Z, Pažanin L, Cvitanović Šojat L, Kekez T, Reiner Z, Mayr JA. Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene. European Journal of Human Genetics : Ejhg. 21: 871-5. PMID 23232693 DOI: 10.1038/Ejhg.2012.272 |
0.524 |
|
| 2013 |
Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, et al. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. Journal of Inherited Metabolic Disease. 36: 55-62. PMID 22562699 DOI: 10.1007/S10545-012-9489-7 |
0.546 |
|
| 2013 |
Maier E, Koch J, Mayr J, Rauscher C, Maxonus I, Freilinger M, Wagentristl H, Sperl W. Atypical and mild clinical manifestation in a boy with mitochondrial ATP6 mutation Neuropediatrics. 44. DOI: 10.1055/S-0033-1337846 |
0.499 |
|
| 2013 |
Wilichowski E, Horvath R, Mayr J, Gärtner J. Autosomal-recessive Kearns-Sayre syndrome is caused by mutations in the RRM2B gene with altered mitochondrial transcription Neuropediatrics. 44. DOI: 10.1055/S-0033-1337752 |
0.489 |
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| 2013 |
Kopajtich R, Haack T, Haberberger B, Mayr J, Sperl W, Ahting U, Freisinger P, Rötig A, Strom T, Meitinger T, Prokisch H. Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing Neuropediatrics. 44. DOI: 10.1055/S-0033-1337715 |
0.433 |
|
| 2013 |
Freisinger P, Haberberger B, Strecker V, Steger M, Heim K, Ahting U, Rolinski B, Mayr J, Rötig A, Sperl W, Zeviani M, Wittig I, Meitinger T, Prokisch H. Bezafibrate as treatment option in patients with mitochondrial complex I deficiency Mitochondrion. 13: 920-921. DOI: 10.1016/J.Mito.2013.07.060 |
0.444 |
|
| 2013 |
Haack T, Strom T, Freisinger P, Ahting U, Rolinski B, Mayr J, Sperl W, Meitinger T, Prokisch H. Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseases Mitochondrion. 13: 920-920. DOI: 10.1016/J.Mito.2013.07.059 |
0.456 |
|
| 2013 |
Freisinger P, Haack T, Mayr J, Plecko B, Ahting U, Rolinski B, Willichowski E, Sperl, Prokisch H. Phenotypic spectrum of 7 patients and 4 novel MTFMT mutations Mitochondrion. 13: 920-920. DOI: 10.1016/J.Mito.2013.07.058 |
0.385 |
|
| 2013 |
Mayr JA, Freisinger P, Haack T, Koch J, Zimmermann F, Prokisch H, Sperl W. Cofactor defects as a cause of mitochondrial encephalomyopathies Mitochondrion. 13: 908. DOI: 10.1016/J.Mito.2013.07.030 |
0.463 |
|
| 2012 |
Mueller EE, Brunner SM, Mayr JA, Stanger O, Sperl W, Kofler B. Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells. Plos One. 7: e52367. PMID 23300652 DOI: 10.1371/Journal.Pone.0052367 |
0.417 |
|
| 2012 |
Haack TB, Makowski C, Yao Y, Graf E, Hempel M, Wieland T, Tauer U, Ahting U, Mayr JA, Freisinger P, Yoshimatsu H, Inui K, Strom TM, Meitinger T, Yonezawa A, et al. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. Journal of Inherited Metabolic Disease. 35: 943-8. PMID 22864630 DOI: 10.1007/S10545-012-9513-Y |
0.384 |
|
| 2012 |
Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, et al. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Journal of Medical Genetics. 49: 277-83. PMID 22499348 DOI: 10.1136/Jmedgenet-2012-100846 |
0.441 |
|
| 2012 |
Mayr JA, Koch J, Fauth C, Zimmermann FA, Rauscher C, Zschocke J, Sperl W. 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. Neuropediatrics. 43: 130-4. PMID 22473288 DOI: 10.1055/S-0032-1309308 |
0.438 |
|
| 2012 |
Mueller EE, Schaier E, Brunner SM, Eder W, Mayr JA, Egger SF, Nischler C, Oberkofler H, Reitsamer HA, Patsch W, Sperl W, Kofler B. Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study. Plos One. 7: e30874. PMID 22348027 DOI: 10.1371/Journal.Pone.0030874 |
0.434 |
|
| 2012 |
Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, et al. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. American Journal of Human Genetics. 90: 314-20. PMID 22284826 DOI: 10.1016/J.Ajhg.2011.12.005 |
0.514 |
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| 2012 |
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. Neonatal onset of Mitochondrial disorders in 129 patients: Clinical and laboratory characteristics and a new approach to diagnosis Journal of Inherited Metabolic Disease. 35: 749-759. PMID 22231385 DOI: 10.1007/S10545-011-9440-3 |
0.486 |
|
| 2012 |
Mueller EE, Mayr JA, Zimmermann FA, Feichtinger RG, Stanger O, Sperl W, Kofler B. Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA. Biochemical and Biophysical Research Communications. 417: 1052-7. PMID 22222373 DOI: 10.1016/J.Bbrc.2011.12.093 |
0.476 |
|
| 2012 |
Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, et al. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. Journal of Medical Genetics. 49: 83-9. PMID 22200994 DOI: 10.1136/Jmedgenet-2011-100577 |
0.512 |
|
| 2012 |
Schenke C, Mayr J, Heußinger N, Nögel S, Sperl W, Trollmann R. Pyruvate dehydrogenase deficiency: Novel PDHA1 mutation in a child with progressive encephalopathy Neuropediatrics. 43. DOI: 10.1055/S-0032-1307084 |
0.456 |
|
| 2012 |
Feichtinger RG, Weis S, Mayr JA, Zimmermann FA, Geilberger R, Sperl W, Kofler B. Alterations of the aerobic mitochondrial energy metabolism in brain tumors Mitochondrion. 12: 564. DOI: 10.1016/J.Mito.2012.07.038 |
0.379 |
|
| 2012 |
Mueller EE, Brunner SM, Mayr JA, Stanger O, Sperl W, Kofler B. Functional comparison of mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells Mitochondrion. 12: 564. DOI: 10.1016/J.Mito.2012.07.037 |
0.368 |
|
| 2011 |
Ebner S, Lang R, Mueller EE, Eder W, Oeller M, Moser A, Koller J, Paulweber B, Mayr JA, Sperl W, Kofler B. Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians. Plos One. 6: e27192. PMID 22174736 DOI: 10.1371/Journal.Pone.0027192 |
0.402 |
|
| 2011 |
Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, Haack TB, Koch J, Ahting U, Prokisch H, Sperl W. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. American Journal of Human Genetics. 89: 806-12. PMID 22152682 DOI: 10.1016/J.Ajhg.2011.11.007 |
0.492 |
|
| 2011 |
Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W. Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. American Journal of Human Genetics. 89: 792-7. PMID 22152680 DOI: 10.1016/J.Ajhg.2011.11.011 |
0.448 |
|
| 2011 |
Mayr JA, Zimmermann FA, Horváth R, Schneider HC, Schoser B, Holinski-Feder E, Czermin B, Freisinger P, Sperl W. Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children. Neuromuscular Disorders : Nmd. 21: 803-8. PMID 21763135 DOI: 10.1016/J.Nmd.2011.06.005 |
0.426 |
|
| 2011 |
Mayr JA, Bodamer O, Haack TB, Zimmermann FA, Madignier F, Prokisch H, Rauscher C, Koch J, Sperl W. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Molecular Genetics and Metabolism. 103: 358-61. PMID 21596602 DOI: 10.1016/J.Ymgme.2011.04.010 |
0.414 |
|
| 2011 |
Danhauser K, Iuso A, Haack TB, Freisinger P, Brockmann K, Mayr JA, Meitinger T, Prokisch H. Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency Molecular Genetics and Metabolism. 103: 161-166. PMID 21458341 DOI: 10.1016/J.Ymgme.2011.03.004 |
0.5 |
|
| 2011 |
Mueller EE, Eder W, Ebner S, Schwaiger E, Santic D, Kreindl T, Stanger O, Paulweber B, Iglseder B, Oberkofler H, Maier R, Mayr JA, Krempler F, Weitgasser R, Patsch W, et al. The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations. Plos One. 6: e16455. PMID 21298061 DOI: 10.1371/Journal.Pone.0016455 |
0.38 |
|
| 2011 |
Zimmermann FA, Mayr JA, Feichtinger R, Neureiter D, Lechner R, Koegler C, Ratschek M, Rusmir H, Sargsyan K, Sperl W, Kofler B. Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors. Frontiers in Bioscience (Elite Edition). 3: 315-25. PMID 21196312 DOI: 10.2741/E247 |
0.452 |
|
| 2011 |
Feichtinger RG, Zimmermann FA, Mayr JA, Neureiter D, Ratschek M, Jones N, Sperl W, Kofler B. Alterations of respiratory chain complexes in sporadic pheochromocytoma. Frontiers in Bioscience (Elite Edition). 3: 194-200. PMID 21196298 DOI: 10.2741/E233 |
0.435 |
|
| 2011 |
Feichtinger RG, Neureiter D, Royer-Pokora B, Mayr JA, Zimmermann FA, Jones N, Koegler C, Ratschek M, Sperl W, Kofler B. Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms' tumor. Frontiers in Bioscience (Elite Edition). 3: 187-93. PMID 21196297 DOI: 10.2741/E232 |
0.364 |
|
| 2011 |
Feichtinger RG, Neureiter D, Mayr JA, Zimmermann FA, Berthold F, Jones N, Sperl W, Kofler B. Loss of mitochondria in ganglioneuromas. Frontiers in Bioscience (Elite Edition). 3: 179-86. PMID 21196296 DOI: 10.2741/E231 |
0.467 |
|
| 2011 |
Merkenschlager A, Sperl W, Bernhard M, Syrbe S, Mayr J. Pyruvate dehydrogenase deficiency presenting as Guillain-Barré syndrome Neuropediatrics. 42. DOI: 10.1055/S-0031-1274100 |
0.333 |
|
| 2011 |
Mayr J, Zimmermann F, Horvat R, Schneider H, Freisinger P, Sperl W. Deficiency of the mitochondrial phosphate carrier as a cause of combined mitochondrial (cardio-)myopathy Neuropediatrics. 42: 77. DOI: 10.1055/S-0031-1274049 |
0.485 |
|
| 2011 |
Freisinger P, Haack T, Biste M, Madignier F, Ahting U, Rolinski B, Mayr J, Tesarova M, Horvath R, Sperl W, Zeviani M, Meitinger T, Prokisch H. Mitochondrial complex I deficiency – new diagnostic approaches allow better genetic characterisation of 150 patients Neuropediatrics. 42. DOI: 10.1055/S-0031-1274044 |
0.441 |
|
| 2011 |
Ramadža DP, Pažanin L, Malčić I, Mayr J, Sperl W, Barišić N. P04.10 Multiple mitochondrial DNA deletions in a patient with isolated myopathy European Journal of Paediatric Neurology. 15. DOI: 10.1016/S1090-3798(11)70161-1 |
0.411 |
|
| 2010 |
Herzer M, Koch J, Prokisch H, Rodenburg RJT, Rauscher C, Radauer W, Forstner R, Pilz P, Rolinski B, Freisinger P, Mayr JA, Sperl W. Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. Neuropediatrics. 41: 30-34. PMID 20571988 DOI: 10.1055/S-0030-1255062 |
0.532 |
|
| 2010 |
Mayr JA, Havlícková V, Zimmermann F, Magler I, Kaplanová V, Jesina P, Pecinová A, Nusková H, Koch J, Sperl W, Houstek J. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. Human Molecular Genetics. 19: 3430-9. PMID 20566710 DOI: 10.1093/Hmg/Ddq254 |
0.494 |
|
| 2010 |
Feichtinger RG, Zimmermann F, Mayr JA, Neureiter D, Hauser-Kronberger C, Schilling FH, Jones N, Sperl W, Kofler B. Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma. Bmc Cancer. 10: 149. PMID 20398431 DOI: 10.1186/1471-2407-10-149 |
0.4 |
|
| 2010 |
Honzík T, Tesařová M, Mayr JA, Hansíková H, Ješina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, Van Coster R, Kmoch S, Houštêk J, Sperl W, et al. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation Archives of Disease in Childhood. 95: 296-301. PMID 20335238 DOI: 10.1136/Adc.2009.168096 |
0.507 |
|
| 2010 |
Lengnick K, Hasselmann O, Horváth R, Schoser B, Mayr J, Weissert M. Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report Neuropediatrics. 41: 1302. DOI: 10.1055/S-0030-1265548 |
0.522 |
|
| 2010 |
Sperl W, Bodamer O, Möslinger D, Koch J, Tesarova M, Zeman J, Houstek J, Kmoch S, Mayr JA. 147 Compound heterozygosity for mutations in TMEM70 Mitochondrion. 10: 241. DOI: 10.1016/J.Mito.2009.12.138 |
0.314 |
|
| 2010 |
Feichtinger RG, Neureiter D, Mayr JA, Zimmermann F, Jones N, Sperl W, Kofler B. 8 Decrease of aerobic mitochondrial energy metabolism in ganglioneuromas Mitochondrion. 10: 202. DOI: 10.1016/J.Mito.2009.12.008 |
0.414 |
|
| 2010 |
Zimmermann FA, Mayr JA, Feichtinger R, Kögler C, Ratschek M, Rusmir H, Sargsyan K, Sperl W, Kofler B. 6 Respiratory chain complex I deficiency in oncocytic tumours Mitochondrion. 10: 201. DOI: 10.1016/J.Mito.2009.12.006 |
0.332 |
|
| 2010 |
Houštěk J, Kmoch S, Mayr JA, Sperl W, Zeman J. 4L.3Genetic disorders of mitochondrial ATP synthase Biochimica Et Biophysica Acta. 1797: 47-48. DOI: 10.1016/J.Bbabio.2010.04.158 |
0.401 |
|
| 2009 |
Quintana E, Mayr JA, Silva MTG, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P. PDH E1β deficiency with novel mutations in two patients with Leigh syndrome Journal of Inherited Metabolic Disease. 32: 339-343. PMID 19924563 DOI: 10.1007/S10545-009-1343-1 |
0.429 |
|
| 2009 |
Mueller EE, Eder W, Mayr JA, Paulweber B, Sperl W, Horninger W, Klocker H, Kofler B. Mitochondrial haplogroups and control region polymorphisms are not associated with prostate cancer in Middle European Caucasians. Plos One. 4: e6370. PMID 19636411 DOI: 10.1016/J.Mito.2009.12.007 |
0.369 |
|
| 2009 |
Acham-Roschitz B, Plecko B, Lindbichler F, Bittner R, Mache CJ, Sperl W, Mayr JA. A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy Molecular Genetics and Metabolism. 98: 300-304. PMID 19616983 DOI: 10.1016/J.Ymgme.2009.06.012 |
0.441 |
|
| 2009 |
Regelsberger G, Höftberger R, Pickl WF, Zlabinger GJ, Körmöczi U, Salzer-Muhar U, Luckner D, Bodamer OA, Mayr JA, Muss WH, Budka H, Bernheimer H. Danon disease: case report and detection of new mutation. Journal of Inherited Metabolic Disease. 32: S115-22. PMID 19588270 DOI: 10.1007/S10545-009-1097-9 |
0.378 |
|
| 2009 |
Kofler B, Mueller EE, Eder W, Stanger O, Maier R, Weger M, Haas A, Winker R, Schmut O, Paulweber B, Iglseder B, Renner W, Wiesbauer M, Aigner I, Santic D, ... ... Mayr JA, et al. Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study. Bmc Medical Genetics. 10: 35. PMID 19383124 DOI: 10.1186/1471-2350-10-35 |
0.369 |
|
| 2009 |
Zimmermann FA, Mayr JA, Neureiter D, Feichtinger R, Alinger B, Jones ND, Eder W, Sperl W, Kofler B. Lack of complex I is associated with oncocytic thyroid tumours. British Journal of Cancer. 100: 1434-1437. PMID 19352385 DOI: 10.1038/Sj.Bjc.6605028 |
0.303 |
|
| 2008 |
Čížková A, Stránecký V, Mayr JA, Tesařová M, Havlíčková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, et al. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy Nature Genetics. 40: 1288-1290. PMID 18953340 DOI: 10.1038/Ng.246 |
0.529 |
|
| 2008 |
Mayr JA, Meierhofer D, Zimmermann F, Feichtinger R, Kögler C, Ratschek M, Schmeller N, Sperl W, Kofler B. Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 14: 2270-5. PMID 18413815 DOI: 10.1158/1078-0432.Ccr-07-4131 |
0.514 |
|
| 2008 |
Čížková A, Stránecký V, Ivánek R, Hartmannová H, Nosková L, Piherová L, Tesařová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocká A, Paul J, Sperl W, Mayr JA, et al. 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 Bmc Genomics. 9: 38-38. PMID 18221507 DOI: 10.1186/1471-2164-9-38 |
0.426 |
|
| 2008 |
Acham-Roschitz B, Mayr J, Sperl W, Lindbichler F, Bittner R, Mache CJ, Ring E, Plecko B. Severe central hypomyelination in an infant with mtDNA depletion caused by RRM2B gene mutations Neuropediatrics. 39: 2. DOI: 10.1055/S-0029-1215771 |
0.362 |
|
| 2008 |
Biste M, Madignier F, Freisinger P, Rolinski B, Mayr J, Horvarth R, Tesarova M, Sperl W, Meitinger T, Prokisch H. Improved molecular diagnostics for patients with respiratory chain complex deficiency Neuropediatrics. 39: 1. DOI: 10.1055/S-0029-1215770 |
0.352 |
|
| 2008 |
Mayr J, Koch J, Rauscher C, Freisinger P, Rolinski B, Ahting U, Sperl W. Relevance of functional investigations of the mitochondrial energy metabolism in unfrozen tissue Neuropediatrics. 39. DOI: 10.1055/S-0029-1215740 |
0.404 |
|
| 2007 |
Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R, Freisinger P, Sperl W. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. American Journal of Human Genetics. 80: 478-484. PMID 17273968 DOI: 10.1086/511788 |
0.476 |
|
| 2007 |
Stanger O, Müller E, Zimmermann F, Wiesbauer M, Mayr JA, Paulweber B, Iglseder B, Renner W, Eder W, Kofler B. 93 Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma Mitochondrion. 7: 431. DOI: 10.1016/J.Mito.2007.08.097 |
0.329 |
|
| 2007 |
Maier R, Müller E, Zimmermann F, Weger M, Haas A, Wedrich A, Eder W, Mattes D, Mossböck G, Mayr JA, Sperl W, Kofler B. 46 Mitochondrial DNA haplogroup distribution in patients with and without diabetic retinopathy Mitochondrion. 7: 417. DOI: 10.1016/J.Mito.2007.08.050 |
0.349 |
|
| 2007 |
Sperl W, Freisinger P, Mayr JA. 28 Relevance of functional investigations of intact mitochondria in the diagnosis of mitochondrial disorders Mitochondrion. 7: 412. DOI: 10.1016/J.Mito.2007.08.032 |
0.44 |
|
| 2006 |
Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W, Huemer M, Oldfors A, Sperl W. A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance. Neuromuscular Disorders : Nmd. 16: 874-7. PMID 17056256 DOI: 10.1016/j.nmd.2006.08.010 |
0.36 |
|
| 2006 |
Sperl W, Ješina P, Zeman J, Mayr JA, DeMeirleir L, VanCoster R, Pícková A, Hansíková H, Houšt’ková H, Krejčík Z, Koch J, Smet J, Muss W, Holme E, Houštěk J. Deficiency of mitochondrial ATP synthase of nuclear genetic origin. Neuromuscular Disorders. 16: 821-829. PMID 17052906 DOI: 10.1016/J.Nmd.2006.08.008 |
0.499 |
|
| 2006 |
Strassburg HM, Koch J, Mayr J, Sperl W, Boltshauser E. Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex. Neuropediatrics. 37: 137-41. PMID 16967364 DOI: 10.1055/S-2006-924555 |
0.316 |
|
| 2006 |
Wiesbauer M, Meierhofer D, Mayr JA, Sperl W, Paulweber B, Kofler B. Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups. Electrophoresis. 27: 3864-8. PMID 16960846 DOI: 10.1002/Elps.200600086 |
0.462 |
|
| 2006 |
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain : a Journal of Neurology. 129: 1674-84. PMID 16621917 DOI: 10.1093/Brain/Awl088 |
0.474 |
|
| 2006 |
Meierhofer D, Mayr JA, Fink K, Schmeller N, Kofler B, Sperl W. Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism British Journal of Cancer. 94: 268-274. PMID 16404428 DOI: 10.1038/Sj.Bjc.6602929 |
0.461 |
|
| 2006 |
Meierhofer D, Ebner S, Mayr JA, Jones ND, Kofler B, Sperl W. Platelet transfusion can mimic somatic mtDNA mutations Leukemia. 20: 362-363. PMID 16357835 DOI: 10.1038/Sj.Leu.2404070 |
0.433 |
|
| 2006 |
Koch J, Mayr J, Sperl W, Plecko B, Haberlandt E, Karall D, Rauter L, Schwarz R, Tscharre A, Lauffer H, Tegtmayer F, Müller-Felber W, Röschinger W, Fütterer N, Freisinger P, et al. Clinical spectrum of polymerase-gamma mutation in 9 children Neuropediatrics. 37. DOI: 10.1055/S-2006-953531 |
0.322 |
|
| 2006 |
Mayr JA, Zimmermann F, Meierhofer D, Schmeller N, Sperl W, Kofler B. Biochemical consequences of a pathogenic A3243G mtDNA mutation Mitochondrion. 6: 268-269. DOI: 10.1016/J.Mito.2006.08.014 |
0.379 |
|
| 2005 |
Meierhofer D, Mayr JA, Ebner S, Sperl W, Kofler B. Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. Mitochondrion. 5: 282-96. PMID 16050991 DOI: 10.1016/J.Mito.2005.06.001 |
0.448 |
|
| 2005 |
Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M. Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. Journal of Inherited Metabolic Disease. 28: 479-92. PMID 15902551 DOI: 10.1007/s10545-005-0479-x |
0.3 |
|
| 2004 |
Gellerich FN, Mayr JA, Reuter S, Sperl W, Zierz S. The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes. Mitochondrion. 4: 427-439. PMID 16120404 DOI: 10.1016/J.Mito.2004.07.007 |
0.425 |
|
| 2004 |
Tesarova M, Mayr JA, Wenchich L, Hansikova H, Elleder M, Blahova K, Sperl W, Zeman J. Mitochondrial DNA depletion in Alpers syndrome. Neuropediatrics. 35: 217-23. PMID 15328560 DOI: 10.1055/S-2004-821081 |
0.326 |
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| 2004 |
Mayr JA, Paul J, Pecina P, Kurnik P, Förster H, Fötschl U, Sperl W, Houštěk J. Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase. Pediatric Research. 55: 988-994. PMID 15155867 DOI: 10.1203/01.Pdr.0000127016.67809.6B |
0.512 |
|
| 2004 |
Budde SM, van den Heuvel LP, Smeets RJ, Skladal D, Mayr JA, Boelen C, Petruzzella V, Papa S, Smeitink JA. Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I. Journal of Inherited Metabolic Disease. 26: 813-5. PMID 14765537 DOI: 10.1023/B:BOLI.0000010003.14113.af |
0.343 |
|
| 2004 |
Meierhofer D, Mayr JA, Foetschl U, Berger A, Fink K, Schmeller N, Hacker GW, Hauser-Kronberger C, Kofler B, Sperl W. Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma. Carcinogenesis. 25: 1005-10. PMID 14764459 DOI: 10.1093/Carcin/Bgh104 |
0.397 |
|
| 2003 |
Berger A, Mayr JA, Meierhofer D, Fötschl U, Bittner R, Budka H, Grethen C, Huemer M, Kofler B, Sperl W. Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathologica. 105: 245-51. PMID 12557011 DOI: 10.1007/S00401-002-0638-1 |
0.453 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2022 |
Roesch S, O'Sullivan A, Zimmermann G, Mair A, Lipuš C, Mayr JA, Wortmann SB, Rasp G. Mitochondrial Disease and Hearing Loss in Children: A Systematic Review. The Laryngoscope. PMID 35188226 DOI: 10.1002/lary.30067 |
0.296 |
|
| 2022 |
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, ... ... Mayr JA, et al. Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency. Human Molecular Genetics. PMID 36190515 DOI: 10.1093/hmg/ddac246 |
0.295 |
|
| 2016 |
Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. European Journal of Medical Genetics. 59: 386-391. PMID 27377014 DOI: 10.1016/j.ejmg.2016.06.007 |
0.294 |
|
| 2013 |
Freisinger P, Mayr JA, Scheffner T, Makowski C, Koch J, Ahting U, Zimmermann FA, Schlachter K, Prokisch H, Sperl W. Thiamine-pyrophosphokinase-deficiency: Clinical and genotypic spectrum in 5 patients Mitochondrion. 13: 921-921. DOI: 10.1016/J.Mito.2013.07.061 |
0.292 |
|
| 2021 |
Inak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, ... ... Mayr JA, et al. Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Nature Communications. 12: 1929. PMID 33771987 DOI: 10.1038/s41467-021-22117-z |
0.29 |
|
| 2019 |
Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Mayr JA, et al. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 883. PMID 30770872 DOI: 10.1038/S41467-019-08800-2 |
0.288 |
|
| 2010 |
Sperl W, Koch J, Rauscher C, Zschocke J, Fauth C, Mayr JA. 146 Difficulty in the diagnosis of X-linked PDHC deficiency due to a large deletion affecting the PDHA1 gene Mitochondrion. 10: 241. DOI: 10.1016/J.Mito.2009.12.137 |
0.287 |
|
| 2022 |
Carvalhal S, Bader I, Rooimans MA, Oostra AB, Balk JA, Feichtinger RG, Beichler C, Speicher MR, van Hagen JM, Waisfisz Q, van Haelst M, Bruijn M, Tavares A, Mayr JA, Wolthuis RMF, et al. Biallelic mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. Science Advances. 8: eabk0114. PMID 35044816 DOI: 10.1126/sciadv.abk0114 |
0.284 |
|
| 2018 |
Feichtinger RG, Schäfer G, Seifarth C, Mayr JA, Kofler B, Klocker H. Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer. Oxidative Medicine and Cellular Longevity. 2018: 1347174. PMID 30538797 DOI: 10.1155/2018/1347174 |
0.283 |
|
| 2011 |
Scheffner T, Mayr J, Rolinski B, Ahting U, Prokisch H, Sperl W, Freisinger P. Progressive dyskinetic spastic paresis in siblings: a new disorder of pyruvate oxidation Neuropediatrics. 42: 79. DOI: 10.1055/S-0031-1274051 |
0.277 |
|
| 2013 |
Sperl W, Mayr JA, Haack TB, Zimmermann FA, Meitinger T, Prokisch H. Sengers syndrome is caused by a deficiency of the acylglycerol kinase Mitochondrion. 13: 909. DOI: 10.1016/J.Mito.2013.07.031 |
0.275 |
|
| 2020 |
Sperl W, Wortmann S, Feichtinger RG, Mayr JA. The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era. Journal of Mother and Child. 24: 47-52. PMID 33179603 DOI: 10.34763/jmotherandchild.20202402si.2005.000008 |
0.274 |
|
| 2013 |
Meierhofer D, Weidner C, Hartmann L, Mayr JA, Han CT, Schroeder FC, Sauer S. Protein sets define disease states and predict in vivo effects of drug treatment. Molecular & Cellular Proteomics : McP. 12: 1965-79. PMID 23579186 DOI: 10.1074/Mcp.M112.025031 |
0.272 |
|
| 2017 |
Aminzadeh-Gohari S, Feichtinger RG, Vidali S, Locker F, Rutherford T, O'Donnel M, Stöger-Kleiber A, Mayr JA, Sperl W, Kofler B. 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. Oncotarget. 8: 64728-64744. PMID 29029389 DOI: 10.18632/Oncotarget.20041 |
0.272 |
|
| 2016 |
Feichtinger RG, Weis S, Mayr JA, Zimmermann FA, Bogner B, Sperl W, Kofler B. Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors. Neuro-Oncology. 18: 184-94. PMID 26106125 DOI: 10.1093/Neuonc/Nov105 |
0.271 |
|
| 2018 |
Bellaing AMd, Guimier A, Bajolle F, Turner C, Grove M, Dunn K, Katta G, Crozier I, Kidd A, Mayr J, Rotig A, Rago JD, Delahodde A, Lyonnet S, Kennedy H, et al. PPA2 gene is involved in neonatal fatal acute dilated cardiomyopathy Archives of Cardiovascular Diseases Supplements. 10: 282. DOI: 10.1016/J.Acvdsp.2018.06.021 |
0.269 |
|
| 2019 |
Yu Q, Tai YY, Tang Y, Zhao J, Negi V, Culley MK, Pilli J, Sun W, Brugger K, Mayr J, Saggar R, Saggar R, Wallace WD, Ross DJ, Waxman AB, et al. BOLA3 Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension. Circulation. PMID 30759996 DOI: 10.1161/Circulationaha.118.035889 |
0.267 |
|
| 2019 |
Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, ... ... Mayr JA, et al. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31092906 DOI: 10.1038/S41436-019-0532-Z |
0.264 |
|
| 2011 |
Reichhardt M, Bernert G, Sperl W, Mayr J, Holub M. P04.4 Atypical myopathic presentation of Pearson Syndrome in early infancy: tissuespecific correlation of mutated mtDNA load and clinical presentation European Journal of Paediatric Neurology. 15: S46. DOI: 10.1016/S1090-3798(11)70155-6 |
0.257 |
|
| 2020 |
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S. Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. American Journal of Human Genetics. PMID 32004446 DOI: 10.1016/j.ajhg.2020.01.005 |
0.255 |
|
| 2008 |
Wildhaber B, Majno P, Mayr J, Zachariou Z, Hohlfeld J, Schwoebel M, Kistler W, Meuli M, Coultre CL, Mentha G, Belli DC, Chardot C. Biliary atresia: swiss national study, 1994-2004 Journal of Pediatric Gastroenterology and Nutrition. 46: 299-307. PMID 18376248 DOI: 10.1097/Mpg.0B013E3181633562 |
0.249 |
|
| 2011 |
Koch J, Mayr J, Rauscher C, Bodamer O, Hung C, Wagner O, Sperl W. Severe neonatal myopathy due to SUCLG1 deficiency with methylmalonic aciduria detected via newborn screening Neuropediatrics. 42: 84. DOI: 10.1055/S-0031-1274056 |
0.247 |
|
| 2021 |
Schänzer A, Achleitner M, Trümbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schöneborn S, et al. Mutations in HID1 cause syndromic infantile encephalopathy and hypopituitarism. Annals of Neurology. PMID 33999436 DOI: 10.1002/ana.26127 |
0.246 |
|
| 2023 |
Achleitner MT, Jans JJM, Ebner L, Spenger J, Konstantopoulou V, Feichtinger RG, Brugger K, Mayr D, Wevers RA, Thiel C, Wortmann SB, Mayr JA. PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening. Metabolites. 13. PMID 37999237 DOI: 10.3390/metabo13111141 |
0.245 |
|
| 2023 |
Weis D, Lin LL, Wang HH, Li ZJ, Kušíková K, Ciznar P, Wolf HM, Leiss-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, ... ... Mayr JA, et al. Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death. The Journal of Clinical Investigation. PMID 37943617 DOI: 10.1172/JCI170882 |
0.245 |
|
| 2021 |
Eckenweiler M, Mayr JA, Grünert S, Abicht A, Korinthenberg R. Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants. Neuropediatrics. 52: 123-125. PMID 33086386 DOI: 10.1055/s-0040-1715631 |
0.242 |
|
| 2021 |
El-Gazzar A, Mayr JA, Voraberger B, Brugger K, Blouin S, Tischlinger K, Duba HC, Prokisch H, Fratzl-Zelman N, Högler W. A novel cryptic splice site mutation in as a cause of osteogenesis imperfecta. Bone Reports. 15: 101110. PMID 34381850 DOI: 10.1016/j.bonr.2021.101110 |
0.242 |
|
| 2013 |
Koch J, Mayr J, Scheffner T, Makowski C, Zimmermann F, Maier E, Debus O, Marquardt T, Schlachter K, Schneider H, Prokisch H, Sperl W, Freisinger P. Clinical symptoms of six children with thiamin pyrophosphokinase deficiency Neuropediatrics. 44. DOI: 10.1055/S-0033-1337845 |
0.238 |
|
| 2014 |
Brunner SM, Farzi A, Locker F, Holub BS, Drexel M, Reichmann F, Lang AA, Mayr JA, Vilches JJ, Navarro X, Lang R, Sperk G, Holzer P, Kofler B. GAL3 receptor KO mice exhibit an anxiety-like phenotype. Proceedings of the National Academy of Sciences of the United States of America. 111: 7138-43. PMID 24782539 DOI: 10.1073/Pnas.1318066111 |
0.232 |
|
| 2021 |
Biagosch CA, Vidali S, Faerberboeck M, Hensler SV, Becker L, Amarie OV, Aguilar-Pimentel A, Garrett L, Klein-Rodewald T, Rathkolb B, Zanuttigh E, Calzada-Wack J, da Silva-Buttkus P, Rozman J, Treise I, ... ... Mayr JA, et al. A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse. Mammalian Genome : Official Journal of the International Mammalian Genome Society. PMID 34043061 DOI: 10.1007/s00335-021-09875-3 |
0.229 |
|
| 2021 |
Ayyıldız Civan H, Leitner C, Östreicher I, Schneider AM, Cremer M, Mayr JA, Rossi R, Müller T, Janecke AR. Three Novel Variants Causing Tufting Enteropathy in Three Families. Children (Basel, Switzerland). 8. PMID 34198699 DOI: 10.3390/children8060503 |
0.228 |
|
| 2023 |
El-Gazzar A, Voraberger B, Rauch F, Mairhofer M, Schmidt K, Guillemyn B, Mitulović G, Reiterer V, Haun M, Mayr MM, Mayr JA, Kimeswenger S, Drews O, Saraff V, Shaw N, et al. Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress. Embo Molecular Medicine. e16834. PMID 36916446 DOI: 10.15252/emmm.202216834 |
0.226 |
|
| 2017 |
Koch J, Mayr J, Alhaddad B, Rauscher C, Bader I, Distelmaier F, Polster T, Leiz S, Betzler C, Sperl W, Wortmann S, Haack T. Reversible Epileptic Encephalopathy upon Uridine Treatment in Patients with CAD Mutations Neuropediatrics. 48: S1-S45. DOI: 10.1055/S-0037-1602868 |
0.225 |
|
| 2017 |
Koch J, Mayr JA, Alhaddad B, Rauscher C, Bader I, Distelmaier F, Polster T, Leiz S, Betzler C, Sperl W, Wortmann SB, Haack TB. Reversible epileptic encephalopathy upon uridine treatment in patients with CAD mutations European Journal of Paediatric Neurology. 21: e176. DOI: 10.1016/J.EJPN.2017.04.994 |
0.225 |
|
| 2015 |
Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Emino?lu FT, Mayr JA, Koch J, Martinelli D, et al. Erratum to: TMEM70 deficiency: long-term outcome of 48 patients. Journal of Inherited Metabolic Disease. 38: 583-4. PMID 25778942 DOI: 10.1007/S10545-015-9833-9 |
0.225 |
|
| 2022 |
Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, et al. How to proceed after "negative" exome: a review on genetic diagnostics, limitations, challenges and emerging new multi-omics techniques. Journal of Inherited Metabolic Disease. PMID 35506430 DOI: 10.1002/jimd.12507 |
0.224 |
|
| 2023 |
Meyer C, Hertig D, Arnold J, Urzi C, Kurth S, Mayr JA, Schaller A, Vermathen P, Nuoffer JM. Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by H HR-MAS NMR. Journal of Inherited Metabolic Disease. PMID 38084664 DOI: 10.1002/jimd.12696 |
0.218 |
|
| 2022 |
Feichtinger RG, Preisel M, Steinbrücker K, Brugger K, Radda A, Wortmann SB, Mayr JA. A Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome. Genes. 13. PMID 36553458 DOI: 10.3390/genes13122191 |
0.215 |
|
| 2008 |
Karall D, Scholl-Buergi S, Baumgartner S, Albrecht U, Haberlandt E, Mayr J, Sperl W, Hager J, Rostasy K, Straninger C. Diagnostic yield of muscle biospies performed at the University Children's Hospital in Innsbruck between 1990 and 2006 Neuropediatrics. 39. DOI: 10.1055/S-2008-1079576 |
0.214 |
|
| 2022 |
Schneider AM, Özsoy M, Zimmermann FA, Brunner SM, Feichtinger RG, Mayr JA, Kofler B, Neureiter D, Klieser E, Aigner E, Schütz S, Stummer N, Sperl W, Weghuber D. Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease. Oxidative Medicine and Cellular Longevity. 2022: 9151169. PMID 35035669 DOI: 10.1155/2022/9151169 |
0.21 |
|
| 2021 |
Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, et al. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34906456 DOI: 10.1016/j.gim.2021.09.005 |
0.208 |
|
| 2023 |
Kušíková K, Šoltýsová A, Ficek A, Feichtinger RG, Mayr JA, Škopková M, Gašperíková D, Kolníková M, Ornig K, Kalev O, Weis S, Weis D. Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool. Genes. 14. PMID 38136996 DOI: 10.3390/genes14122174 |
0.207 |
|
| 2020 |
Bader I, McTiernan N, Darbakk C, Boltshauser E, Ree R, Ebner S, Mayr JA, Arnesen T. 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. Bmc Medical Genetics. 21: 153. PMID 32698785 DOI: 10.1186/s12881-020-01091-1 |
0.207 |
|
| 2023 |
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, ... ... Mayr JA, et al. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101013. PMID 37924258 DOI: 10.1016/j.gim.2023.101013 |
0.203 |
|
| 2015 |
Prokisch H, Sperl W, Meitinger T, Mayr JA. Mitochondriopathien – neue Trends in Diagnostik und Therapie Medizinische Genetik. 27: 282-287. DOI: 10.1007/S11825-015-0061-3 |
0.203 |
|
| 2007 |
Stanger O, Müller E, Zimmermann F, Wiesbauer M, Mayr JA, Paulweber B, Iglseder B, Renner W, Eder W, Kofler B. 30 Mitochondrial haplogroup T is associated with coronary artery disease Mitochondrion. 7: 412. DOI: 10.1016/J.Mito.2007.08.034 |
0.202 |
|
| 2020 |
Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, Oussuren E, Mayr JA, van Spronsen FJ, Lagler FB, Gaughan S, Van Schaftingen E, Veiga-da-Cunha M. Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor. Blood. PMID 32294159 DOI: 10.1182/blood.2019004465 |
0.202 |
|
| 2021 |
Guimier A, Achleitner MT, de Bellaing AM, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, ... ... Mayr JA, et al. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34400813 DOI: 10.1038/s41436-021-01296-6 |
0.199 |
|
| 2021 |
Mayr JA, Feichtinger RG, Achleitner MT, Brugger K, Kutsam K, Spenger J, Koch J, Hofbauer P, Lagler FB, Sperl W, Weghuber D, Wortmann SB. [Molecular medicine: pathobiochemistry as the key to personalized treatment of inherited diseases]. Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde. 1-8. PMID 34341617 DOI: 10.1007/s00112-021-01252-3 |
0.196 |
|
| 2021 |
Dias C, Pfundt R, Kleefstra T, Shuurs-Hoeijmakers J, Boon EMJ, van Hagen JM, Zwijnenburg P, Weiss MM, Keren B, Mignot C, Isapof A, Weiss K, Hershkovitz T, Iascone M, Maitz S, ... ... Mayr JA, et al. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. American Journal of Medical Genetics. Part A. PMID 34003604 DOI: 10.1002/ajmg.a.62254 |
0.192 |
|
| 2023 |
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, ... ... Mayr JA, et al. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Science Translational Medicine. 15: eabo3189. PMID 37256937 DOI: 10.1126/scitranslmed.abo3189 |
0.19 |
|
| 2018 |
Wortmann SB, Spenger J, Preisel M, Koch J, Rauscher C, Bader I, Mayr JA, Sperl W. Next-Generation-Sequenzierung – Next-Generation-Qualität in der Pädiatrie Paediatr. Paedolog. Austria. 53: 278-283. DOI: 10.1007/S00608-018-0627-9 |
0.188 |
|
| 2020 |
Roesch S, Bernardinelli E, Wortmann S, Mayr JA, Bader I, Schweighofer-Zwink G, Rasp G, Dossena S. [Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene]. Laryngo- Rhino- Otologie. 99: 853-862. PMID 33307573 DOI: 10.1055/a-1190-4173 |
0.187 |
|
| 2021 |
Gonzalez Melo M, Fontana AO, Viertl D, Allenbach G, Prior JO, Rotman S, Feichtinger RG, Mayr JA, Costanzo M, Caterino M, Ruoppolo M, Braissant O, Barbey F, Ballhausen D. A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I. Molecular Genetics and Metabolism. PMID 34799272 DOI: 10.1016/j.ymgme.2021.10.003 |
0.186 |
|
| 2021 |
Hüllen A, Falkenstein K, Weigel C, Huidekoper H, Naumann-Bartsch N, Spenger J, Feichtinger RG, Schaefers J, Frenz S, Kotlarz D, Momen T, Khoshnevisan R, Riedhammer KM, Santer R, Herget T, ... ... Mayr JA, et al. CONGENITAL DISORDERS OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION. Journal of Inherited Metabolic Disease. PMID 34389986 DOI: 10.1002/jimd.12426 |
0.175 |
|
| 2020 |
Rymen D, Lindhout M, Spanou M, Ashrafzadeh F, Benkel I, Betzler C, Coubes C, Hartmann H, Kaplan JD, Ballhausen D, Koch J, Lotte J, Mohammadi MH, Rohrbach M, Dinopoulos A, ... ... Mayr JA, et al. Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32820246 DOI: 10.1038/S41436-020-0933-Z |
0.17 |
|
| 2019 |
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Mayr JA, et al. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 2079. PMID 31048695 DOI: 10.1038/s41467-019-10161-9 |
0.165 |
|
| 2021 |
Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, ... ... Mayr JA, et al. Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34302123 DOI: 10.1038/s41436-021-01280-0 |
0.159 |
|
| 2023 |
Feichtinger RG, Preisel M, Brugger K, Wortmann SB, Mayr JA. Case Report-An Inherited Loss-of-Function Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions. Genes. 14. PMID 37372397 DOI: 10.3390/genes14061217 |
0.157 |
|
| 2021 |
Feichtinger RG, Hüllen A, Koller A, Kotzot D, Grote V, Rapp E, Hofbauer P, Brugger K, Thiel C, Mayr JA, Wortmann SB. A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder. Embo Molecular Medicine. 13: e14332. PMID 34468083 DOI: 10.15252/emmm.202114332 |
0.154 |
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| 2021 |
Krenn M, Schloegl M, Pataraia E, Gelpi E, Schröder S, Rauscher C, Mayr JA, Kotzot D, Zimprich F, Meitinger T, Wagner M. Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B. Seizure. 87: 25-29. PMID 33677401 DOI: 10.1016/j.seizure.2021.02.027 |
0.153 |
|
| 2023 |
Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, ... ... Mayr JA, et al. Genetic landscape of pediatric acute liver failure of indeterminate origin. Hepatology (Baltimore, Md.). PMID 37976411 DOI: 10.1097/HEP.0000000000000684 |
0.151 |
|
| 2022 |
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, ... ... Mayr JA, et al. Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Medicine. 14: 38. PMID 35379322 DOI: 10.1186/s13073-022-01019-9 |
0.151 |
|
| 2024 |
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, et al. Biallelic variants in Plexin B2 () cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of Medical Genetics. PMID 38458752 DOI: 10.1136/jmg-2023-109728 |
0.142 |
|
| 2013 |
Finkenstedt A, Schranz M, Bösch S, Karall D, Bürgi SS, Ensinger C, Drach M, Mayr JA, Janecke AR, Vogel W, Nachbaur D, Zoller H. MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation. Jimd Reports. 10: 41-4. PMID 23430799 DOI: 10.1007/8904_2012_199 |
0.139 |
|
| 2003 |
Roposch A, Mayr J, Linhart WE. Age at onset, extent of necrosis, and containment in Perthes disease. Results at maturity. Archives of Orthopaedic and Trauma Surgery. 123: 68-73. PMID 12721683 DOI: 10.1007/s00402-002-0445-0 |
0.134 |
|
| 2022 |
Stummer N, Weghuber D, Feichtinger RG, Huber S, Mayr JA, Kofler B, Neureiter D, Klieser E, Hochmann S, Lauth W, Schneider AM. Hydrogen Sulfide Metabolizing Enzymes in the Intestinal Mucosa in Pediatric and Adult Inflammatory Bowel Disease. Antioxidants (Basel, Switzerland). 11. PMID 36421421 DOI: 10.3390/antiox11112235 |
0.134 |
|
| 2015 |
Escobar JO, Molero-Luis M, Arias A, Darin N, Casado M, Serrano M, Tondo M, Mayr J, Ribes A, Artuch R, Pérez-Dueñas B. OP6 – 2631: Decreased free-thiamine in cerebro spinal fluid and fibroblasts is a sensitive marker of thiamine transporter 2 deficiency in Leigh syndrome patients European Journal of Paediatric Neurology. 19: S2-S3. DOI: 10.1016/S1090-3798(15)30007-6 |
0.132 |
|
| 2017 |
Lang R, Feichtinger RG, Geilberger R, Rathje F, Mayr JA, Sperl W, Bauer JW, Hauser-Kronberger C, Emberger M, Kofler B. 532 Variable but distinct metabolic signature in malignant melanoma Journal of Investigative Dermatology. 137. DOI: 10.1016/J.Jid.2017.07.729 |
0.129 |
|
| 2020 |
Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Jimenez JCDR, Demmer L, Dsouza NR, ... ... Mayr JA, et al. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33173220 DOI: 10.1038/s41436-020-00993-y |
0.121 |
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| 2020 |
Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, Biskup S, Dreha-Kulaczewski S, Christoph Korenke G, Kottke R, Mayr JA, Preisel M, Toelle SP, Wente-Schulz S, Wortmann SB, et al. Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33024317 DOI: 10.1038/s41436-020-00979-w |
0.121 |
|
| 2024 |
Wang Y, DU X, Tomaszewski R, Journeau P, Mayr J. Operative management of sacroiliac joint dislocation in children with unstable pelvic fractures - A STROBE-compliant investigation. Journal of Orthopaedics. 52: 6-11. PMID 38404697 DOI: 10.1016/j.jor.2024.02.004 |
0.12 |
|
| 2022 |
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, et al. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 36305855 DOI: 10.1016/j.gim.2022.09.015 |
0.119 |
|
| 2022 |
Zámbó GG, Mayr J, Sauer MJ, Schlachta TP, Reich RM, Kühn FE. The first macrocyclic abnormally coordinating tetra-1,2,3-triazole-5-ylidene iron complex: a promising candidate for olefin epoxidation. Dalton Transactions (Cambridge, England : 2003). PMID 36039702 DOI: 10.1039/d2dt02561b |
0.119 |
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| 2021 |
Gonzalez Melo M, Remacle N, Cudré-Cung HP, Roux C, Poms M, Cudalbu C, Barroso M, Gersting SW, Feichtinger RG, Mayr JA, Costanzo M, Caterino M, Ruoppolo M, Rüfenacht V, Häberle J, et al. The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery. Molecular Genetics and Metabolism. PMID 33965309 DOI: 10.1016/j.ymgme.2021.03.017 |
0.118 |
|
| 2013 |
Sesia SB, Mayr J, Bruder E, Haecker FM. Neurogenic appendicopathy: clinical, macroscopic, and histopathological presentation in pediatric patients. European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift FüR Kinderchirurgie. 23: 238-42. PMID 23444074 DOI: 10.1055/s-0032-1333119 |
0.117 |
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| 2023 |
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, et al. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 25: 100828. PMID 37272928 DOI: 10.1016/j.gim.2023.100828 |
0.109 |
|
| 2023 |
Voraberger B, Mayr JA, Fratzl-Zelman N, Blouin S, Uday S, Kopajtich R, Koedam M, Hödlmayr H, Wortmann SB, Csillag B, Prokisch H, van der Eerden BCJ, El-Gazzar A, Högler W. Investigating the role of ASCC1 in the causation of bone fragility. Frontiers in Endocrinology. 14: 1137573. PMID 37455927 DOI: 10.3389/fendo.2023.1137573 |
0.108 |
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| 2018 |
Ott C, Bobylev A, Holland-Cunz SG, Mayr J. Unilateral Straight Hair-A Symptom of Acquired Horner's Syndrome in a Neonate. European Journal of Pediatric Surgery Reports. 6: e32-e36. PMID 29632800 DOI: 10.1055/s-0038-1639479 |
0.107 |
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| 2020 |
Frei B, Sommer-Joergensen V, Holland-Cunz S, Mayr J. Acute compartment syndrome in children; beware of "silent" compartment syndrome: A CARE-compliant case report. Medicine. 99: e20504. PMID 32501996 DOI: 10.1097/MD.0000000000020504 |
0.106 |
|
| 2022 |
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, ... ... Mayr JA, et al. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 24: 967. PMID 35394429 DOI: 10.1016/j.gim.2022.02.002 |
0.102 |
|
| 2021 |
Schlemmer T, Brunner R, Speth B, Mayr J, Rutz E. Differences between Two Methods to Stabilize Supramalleolar Osteotomies in Children-A Retrospective Case Series. Children (Basel, Switzerland). 8. PMID 33513700 DOI: 10.3390/children8020086 |
0.092 |
|
| 2015 |
Walther K, Bruder E, Goldenberger D, Mayr J, Schaad UB, Ritz N. Actinomyces neuii Isolated From a 20-Month-Old Girl With Cervical Lymphadenitis. Journal of the Pediatric Infectious Diseases Society. 4: e32-7. PMID 26407440 DOI: 10.1093/jpids/piu096 |
0.09 |
|
| 2017 |
Schuster B, Mayr J. Acute pneumatosis cystoides intestinalis with atrophic desmosis of the colon in a child. Bmj Case Reports. 2017. PMID 28630222 DOI: 10.1136/bcr-2017-219310 |
0.089 |
|
| 2016 |
Sesia SB, Obermeyer RJ, Mayr J, Haecker FM. Pulmonary function in pectus excavatum patients before repair with the Nuss Procedure. Postgraduate Medicine. PMID 27352619 DOI: 10.1080/00325481.2016.1205454 |
0.087 |
|
| 2015 |
Badoi A, Frech-Dörfler M, Häcker FM, Mayr J. Influence of Immobilization Time on Functional Outcome in Radial Neck Fractures in Children. European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie. 26: 514-518. PMID 26540442 DOI: 10.1055/s-0035-1566108 |
0.086 |
|
| 2017 |
Pang T, Sesia SB, Holland-Cunz S, Mayr J. Replaceable Jejunal Feeding Tubes in Severely Ill Children. Gastroenterology Research and Practice. 2017: 2090795. PMID 28232847 DOI: 10.1155/2017/2090795 |
0.084 |
|
| 2009 |
Sesia SB, Haecker FM, Mayr J. Mechanical Complication with Broviac Repair Kit in a 4-Year-Old Boy with MEN 2a. International Journal of Pediatrics. 2009: 693583. PMID 20041006 DOI: 10.1155/2009/693583 |
0.081 |
|
| 2007 |
Gueth U, Renner R, Egelhof T, Singer G, Holzgreve W, Mayr J. Retroperitoneal displacement of ovary and fallopian tube: a complication of surgical management of incarcerated inguinal hernia in female infants. Journal of Pediatric Surgery. 42: E33-5. PMID 17502174 DOI: 10.1016/j.jpedsurg.2007.03.002 |
0.078 |
|
| 2006 |
Haecker FM, Mayr J. The vacuum bell for treatment of pectus excavatum: an alternative to surgical correction? European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association For Cardio-Thoracic Surgery. 29: 557-61. PMID 16473516 DOI: 10.1016/j.ejcts.2006.01.025 |
0.076 |
|
| 2020 |
Pfammatter M, Erlanger TE, Mayr J. Primary Transverse Closure Compared to Open Wound Treatment for Primary Pilonidal Sinus Disease in Children. Children (Basel, Switzerland). 7. PMID 33080769 DOI: 10.3390/children7100187 |
0.076 |
|
| 2021 |
Schlemmer T, Brunner R, Speth B, Camathias C, Mayr J, Rutz E. Hip reconstruction in closed triradiate cartilage: long-term outcomes in patients with cerebral palsy. Archives of Orthopaedic and Trauma Surgery. PMID 34050376 DOI: 10.1007/s00402-021-03970-5 |
0.069 |
|
| 2023 |
Wollkopf ADP, Halbeisen FS, Holland-Cunz SG, Mayr J. Diametaphyseal Distal Forearm Fractures in Children: A STROBE Compliant Comparison of Outcomes of Different Stabilization Techniques Regarding Complications. Children (Basel, Switzerland). 10. PMID 36832503 DOI: 10.3390/children10020374 |
0.066 |
|
| 2017 |
Kreutz M, Fitze B, Blecher C, Marcello A, Simon R, Cremer R, Zeilhofer HF, Kunz C, Mayr J. Facial asymmetry correction with moulded helmet therapy in infants with deformational skull base plagiocephaly. Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association For Cranio-Maxillo-Facial Surgery. PMID 29221913 DOI: 10.1016/j.jcms.2017.10.013 |
0.06 |
|
| 2014 |
De Bernardis G, Mayr J. Replacement of a string jejunostomy if the suture is lost: first time a technique with no need to cut. Surgical Laparoscopy, Endoscopy & Percutaneous Techniques. 23: 360-1. PMID 23752013 DOI: 10.1097/SLE.0b013e31828e3867 |
0.058 |
|
| 2006 |
Schalamon J, Ainoedhofer H, Singer G, Petnehazy T, Mayr J, Kiss K, Höllwarth ME. Analysis of dog bites in children who are younger than 17 years. Pediatrics. 117: e374-9. PMID 16510617 DOI: 10.1542/peds.2005-1451 |
0.057 |
|
| 2020 |
Tomaszewski R, Rutz E, Mayr J, Dajka J. Surgical treatment of benign lesions and pathologic fractures of the proximal femur in children. Archives of Orthopaedic and Trauma Surgery. 142: 615-624. PMID 33236185 DOI: 10.1007/s00402-020-03687-x |
0.057 |
|
| 2018 |
Geiger S, Bobylev A, Schädelin S, Mayr J, Holland-Cunz S, Zimmermann P. Single-center, retrospective study of the outcome of laparoscopic inguinal herniorrhaphy in children. Medicine. 96: e9486. PMID 29384943 DOI: 10.1097/MD.0000000000009486 |
0.057 |
|
| 2022 |
Zachurzok A, Mayr J, Rutz E, Tomaszewski R. Dimensions of the anterior cruciate ligament and thickness of the distal femoral growth plate in children: a MRI-based study. Archives of Orthopaedic and Trauma Surgery. PMID 35438332 DOI: 10.1007/s00402-022-04441-1 |
0.055 |
|
| 2006 |
Zaupa P, Mayr J, Höllwarth ME. Antegrade scrotal sclerotherapy for treating primary varicocele in children. Bju International. 97: 809-12. PMID 16536779 DOI: 10.1111/j.1464-410X.2006.06033.x |
0.054 |
|
| 2022 |
Troxler D, Mayr J. POCUS Diagnosis of Sternal Fractures in Children without Direct Trauma-A Case Series. Children (Basel, Switzerland). 9. PMID 36360419 DOI: 10.3390/children9111691 |
0.054 |
|
| 2015 |
Sesia SB, Berger E, Holland-Cunz S, Mayr J, Häcker FM. Laparoscopy-Assisted Single-Port Appendectomy in Children: Safe Alternative also for Perforated Appendicitis? Medicine. 94: e2289. PMID 26683962 DOI: 10.1097/MD.0000000000002289 |
0.053 |
|
| 2020 |
Riederer M, Wallner M, Schweighofer N, Fuchs-Neuhold B, Rath A, Berghold A, Eberhard K, Groselj-Strele A, Staubmann W, Peterseil M, Waldner I, Mayr JA, Rothe M, Holasek S, Maunz S, et al. Distinct maternal amino acids and oxylipins predict infant fat mass and fat-free mass indices. Archives of Physiology and Biochemistry. 1-12. PMID 33283558 DOI: 10.1080/13813455.2020.1846204 |
0.053 |
|
| 2022 |
Tomaszewski R, Pethe K, Kler J, Rutz E, Mayr J, Dajka J. Supracondylar Fractures of the Humerus: Association of Neurovascular Lesions with Degree of Fracture Displacement in Children-A Retrospective Study. Children (Basel, Switzerland). 9. PMID 35327679 DOI: 10.3390/children9030308 |
0.052 |
|
| 2019 |
Pfeifle VA, Schreiner S, Trachsel D, Holland-Cunz SG, Mayr J. Damage control orthopedics applied in an 8-year-old child with life-threatening multiple injuries: A CARE-compliant case report. Medicine. 98: e15294. PMID 31008978 DOI: 10.1097/MD.0000000000015294 |
0.052 |
|
| 2021 |
Riederer M, Schweighofer N, Trajanoski S, Stelzer C, Zehentner M, Fuchs-Neuhold B, Kashofer K, Mayr JA, Hörmann-Wallner M, Holasek S, van der Kleyn M. Free threonine in human breast milk is related to infant intestinal microbiota composition. Amino Acids. PMID 34477981 DOI: 10.1007/s00726-021-03057-w |
0.049 |
|
| 2008 |
Kiss K, Swatek P, Lénárt I, Mayr J, Schmidt B, Pintér A, Höllwarth ME. Analysis of horse-related injuries in children. Pediatric Surgery International. 24: 1165-9. PMID 18696082 DOI: 10.1007/s00383-008-2214-9 |
0.048 |
|
| 2019 |
Frei B, Mayr J, de Bernardis G, Camathias C, Holland-Cunz S, Rutz E. Elastic stabile intramedullary nailing (ESIN) of diaphyseal femur fractures in children and adolescents: A strobe-compliant study. Medicine. 98: e15085. PMID 30946361 DOI: 10.1097/MD.0000000000015085 |
0.048 |
|
| 2006 |
Mayr J, Peicha G, Grechenig W, Hammerl R, Weiglein A, Sorantin E. Fractures and dislocations of the foot in children. Clinics in Podiatric Medicine and Surgery. 23: 167-89, ix. PMID 16598914 DOI: 10.1016/j.cpm.2005.10.011 |
0.044 |
|
| 2020 |
Freislederer F, Berberich T, Erb TO, Mayr J. Pain during Cast Wedging of Forearm Shaft and Distal Forearm Fractures in Children Aged 3 to 12 Years-A Prospective, Observational Study. Children (Basel, Switzerland). 7. PMID 33207721 DOI: 10.3390/children7110229 |
0.043 |
|
| 2022 |
Troxler D, Sanchez C, de Trey T, Mayr J, Walther M. Non-Inferiority of Point-of-Care Ultrasound Compared to Radiography to Diagnose Upper Extremity Fractures in Children. Children (Basel, Switzerland). 9. PMID 36291432 DOI: 10.3390/children9101496 |
0.039 |
|
| 2016 |
Lardelli P, Frech-Dörfler M, Holland-Cunz S, Mayr J. Slow Recovery of Weight Bearing After Stabilization of Long-Bone Fractures Using Elastic Stable Intramedullary Nails in Children. Medicine. 95: e2966. PMID 26986106 DOI: 10.1097/MD.0000000000002966 |
0.038 |
|
| 2017 |
Sesia SB, Prüfer F, Mayr J. Sternal Fracture in Children: Diagnosis by Ultrasonography. European Journal of Pediatric Surgery Reports. 5: e39-e42. PMID 28868230 DOI: 10.1055/s-0037-1606197 |
0.038 |
|
| 2006 |
Fasching G, Haeusler M, Mayr J, Schimpl G, Haas J, Puerstner P. Can levels of interleukins and matrix metalloproteinases in the amniotic fluid predict postnatal bowel function in fetuses with gastroschisis? Journal of Pediatric Surgery. 40: 1887-91. PMID 16338312 DOI: 10.1016/j.jpedsurg.2005.08.032 |
0.034 |
|
| 2015 |
Morscher RJ, Aminzadeh-Gohari S, Feichtinger R, Mayr JA, Lang R, Neureiter D, Sperl W, Kofler B. Inhibition of neuroblastoma tumor growth by ketogenic diet and/or calorie restriction in a CD1-nu mouse model Plos One. 10. DOI: 10.1371/journal.pone.0129802 |
0.034 |
|
| 2020 |
Dell-Kuster S, Gomes NV, Gawria L, Aghlmandi S, Aduse-Poku M, Bissett I, Blanc C, Brandt C, Ten Broek RB, Bruppacher HR, Clancy C, Delrio P, Espin E, Galanos-Demiris K, Gecim IE, ... ... Mayr J, et al. Prospective validation of classification of intraoperative adverse events (ClassIntra): international, multicentre cohort study. Bmj (Clinical Research Ed.). 370: m2917. PMID 32843333 DOI: 10.1136/bmj.m2917 |
0.034 |
|
| 2005 |
Mayr J, Schwantzer G, Swatek P, Neugebauer H, Berghold A. Causes and consequences of moped injuries in children and adolescents. International Journal of Injury Control and Safety Promotion. 12: 49-51. PMID 15814376 DOI: 10.1080/17457300512331339193 |
0.032 |
|
| 2010 |
Sesia SB, Haecker FM, Kubiak R, Mayr J. Laparoscopy-assisted single-port appendectomy in children: is the postoperative infectious complication rate different? Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A. 20: 867-71. PMID 20879873 DOI: 10.1089/lap.2010.0180 |
0.028 |
|
| 2005 |
Khayati S, Schwantzer G, Hammerl R, Weinberg A, Mayr J. Medium-term physical and behavioural sequelae of motor vehicle occupant injuries in children. International Journal of Injury Control and Safety Promotion. 12: 53-5. PMID 15814377 DOI: 10.1080/17457300512331342234 |
0.013 |
|
| 2024 |
Vogel GF, Feichtinger RG, Mayr JA, Wortmann SB. Response to Kulseth. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101040. PMID 38226982 DOI: 10.1016/j.gim.2023.101040 |
0.01 |
|
| 2009 |
Haecker FM, Berberich T, Mayr J, Gambazzi F. Near-fatal bleeding after transmyocardial ventricle lesion during removal of the pectus bar after the Nuss procedure. The Journal of Thoracic and Cardiovascular Surgery. 138: 1240-1. PMID 19660261 DOI: 10.1016/j.jtcvs.2008.07.027 |
0.01 |
|
| 2007 |
Schalamon J, Eberl R, Ainoedhofer H, Singer G, Spitzer P, Mayr J, Schober PH, Hoellwarth ME. School accidents in Austria. Pediatric Surgery International. 23: 861-5. PMID 17611761 DOI: 10.1007/s00383-007-1951-5 |
0.01 |
|
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