| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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