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المؤلفون: Thomas Meitinger, Detlef Boehm, Eleonora Lamantea, Graziella Uziel, Boris Rolinski, Hans-Werner Mewes, Saskia Biskup, Jonathan Hoser, Massimo Zeviani, Federica Invernizzi, Arcangela Iuso, Joanna Poulton, Tobias B. Haack, Thorsten Schmidt, Holger Prokisch, Birgit Haberberger, Katharina Danhauser, Valentina Strecker, Ilka Wittig
مصطلحات موضوعية: Electrophoresis, Male, Protein family, Mitochondrial disease, Riboflavin, Molecular Sequence Data, Biology, Compound heterozygosity, medicine.disease_cause, Cell Line, Transduction, Genetic, Acyl-CoA Dehydrogenases, Transduction, Genetic, Genetics, medicine, Humans, Electrophoresis, Gel, Two-Dimensional, Amino Acid Sequence, Allele, Preschool, Child, Exome sequencing, Mutation, Gel, Electron Transport Complex I, Child, Preschool, Exons, Female, Fibroblasts, Genetic Complementation Test, Infant, Sequence Analysis, DNA, Wild type, DNA, medicine.disease, Two-Dimensional, Abnormality, Sequence Analysis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01684733634c50430d1fee85f550d47c
https://ora.ox.ac.uk/objects/uuid:03fdd482-6107-48b8-888b-c999ac96f82e -
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المؤلفون: Ulrike Herberg, Johannes A Mayr, Thomas Klopstock, Peter Freisinger, Thomas Wieland, Tobias B. Haack, Valentina Strecker, Marketa Tesarova, Georg F. Hoffmann, Elisabeth Graf, Thomas Meitinger, Klaus A. Kuhn, Uwe Ahting, Holger Prokisch, Julia B. Hennermann, Tim M. Strom, Birgit Haberberger, Arcangela Iuso, Massimo Zeviani, Eva-Maria Frisch, Hana Hansikova, Ekkehard Wilichowski, Matteo Gorza, Ilka Wittig, Wolfgang Sperl, Markus Schuelke, Jiri Zeman, Barbara Plecko
المصدر: Journal of Medical Genetics; Vol 49
Journal of Medical Geneticsمصطلحات موضوعية: medicine.medical_specialty, Mitochondrial Diseases, In silico, Gene Expression, Biology, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Molecular genetics, Genetics, medicine, Humans, Exome, Allele, Gene, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Electron Transport Complex I, Amino Acid Substitution, Mutation, NADH Dehydrogenase, Sequence Analysis, DNA, Genetic heterogeneity, DNA, ddc, 3. Good health, Sequence Analysis, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Alice Goldenberg, Caroline Lardennois, Holger Prokisch, Agnès Rötig, Birgit Haberberger, Damien Bonnet, Arnold Munnich, Metodi D. Metodiev, Franck Iserin, Tobias B. Haack, Marie Collet, Zahra Assouline, Daniel Sidi, Marlène Rio
المصدر: Eur. J. Hum. Genet., DOI: 10.1038/ejhg.2015.264 (2015)
Europe PubMed Centralمصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Mitochondrial Diseases, medicine.medical_treatment, Mutation, Missense, Cardiomegaly, Exercise intolerance, Compound heterozygosity, Article, 03 medical and health sciences, Atrophy, Acyl-CoA Dehydrogenases, Mutation Rate, Internal medicine, Genetics, medicine, Missense mutation, Humans, Mitochondrial respiratory chain complex I, Child, Frameshift Mutation, Genetics (clinical), Cells, Cultured, Heart transplantation, Electron Transport Complex I, business.industry, Muscle weakness, Infant, Syndrome, medicine.disease, Transplantation, 030104 developmental biology, Child, Preschool, Cardiology, Female, medicine.symptom, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ca269f1bfee767d06a5ebb6fd50aa2f
https://europepmc.org/articles/PMC4970679/ -
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المؤلفون: Holger Prokisch, Birgit Haberberger, Eric S. Goetzman, Radha Uppala, Yudong Wang, Al-Walid Mohsen, Edward V. Prochownik, Jung-Ja P. Kim, Anuradha Karunanidhi, Dolly Prabhu, Arnold Munnich, Johannes Häberle, Agnès Rötig, Yuxun Zhang, Robert W. Taylor, Robert D. Nicholls, Hana Alharbi, Chuanwu Xia, Tobias B. Haack, Manuel Schiff, Jerry Vockley
المساهمون: University of Zurich, Schiff, Manuel
المصدر: Hum. Mol. Genet. 24, 3238-3247 (2015)
BASE-Bielefeld Academic Search Engineمصطلحات موضوعية: 2716 Genetics (clinical), medicine.medical_specialty, Mitochondrial Diseases, Mutation, Missense, Respiratory chain, 610 Medicine & health, Mitochondrion, Severity of Illness Index, Mice, 1311 Genetics, Acyl-CoA Dehydrogenases, Internal medicine, 1312 Molecular Biology, Genetics, medicine, Animals, Humans, Mitochondrial respiratory chain complex I, Molecular Biology, Beta oxidation, Genetic Association Studies, Genetics (clinical), chemistry.chemical_classification, Electron Transport Complex I, biology, Fatty Acids, Wild type, Acyl CoA dehydrogenase, Articles, General Medicine, Enzyme assay, ddc, HEK293 Cells, Enzyme, Endocrinology, chemistry, Biochemistry, 10036 Medical Clinic, biology.protein, Protein Multimerization, Oxidation-Reduction
وصف الملف: application/pdf; ddv074.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9d3c1ba8fc6207b418438080b3840b
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=43518 -
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المؤلفون: Holger Prokisch, Birgit Haberberger, Yasin Memari, Thomas Wieland, Valentina Strecker, Georg F. Hoffmann, Peter Freisinger, Laura S. Kremer, Wolfgang Sperl, Uwe Ahting, Thomas Meitinger, Urania Kotzaeridou, Tim M. Strom, Gudrun Schottmann, Matteo Gorza, Richard J. Rodenburg, Tobias B. Haack, Johannes A. Mayr, Elisabeth Graf, Saskia B. Wortmann, Ulrich Stephani, Katharina Danhauser, Barbara Plecko, Markus Schuelke, Ekkehard Wilichowski, Ilka Wittig, Robert Kopajtich
المساهمون: University of Zurich, Freisinger, Peter
المصدر: Molecular Genetics and Metabolism, 111, 342-52
Molecular Genetics and Metabolism, 111, 3, pp. 342-52مصطلحات موضوعية: Adult, Hydroxymethyl and Formyl Transferases, Male, Candidate gene, 1303 Biochemistry, RNA, Transfer, Met, Adolescent, Mitochondrial translation, Endocrinology, Diabetes and Metabolism, 610 Medicine & health, Biology, Biochemistry, DNA sequencing, Oxidative Phosphorylation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, 1311 Genetics, 1312 Molecular Biology, Genetics, Humans, Exome, Child, Molecular Biology, Exome sequencing, Genetic Association Studies, 030304 developmental biology, Sanger sequencing, 0303 health sciences, Genetic heterogeneity, Infant, Newborn, Infant, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Sequence Analysis, DNA, Disease gene identification, 1310 Endocrinology, 3. Good health, Mitochondria, 2712 Endocrinology, Diabetes and Metabolism, 10036 Medical Clinic, Child, Preschool, Protein Biosynthesis, symbols, Female, Leigh Disease, 030217 neurology & neurosurgery
وصف الملف: HaackTB, 2014.pdf - application/pdf
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المؤلفون: T. M. Strom, Agnès Rötig, Johannes A. Mayr, Robert Kopajtich, Tobias B. Haack, Uwe Ahting, Wolfgang Sperl, Thomas Meitinger, Peter Freisinger, Holger Prokisch, Birgit Haberberger
المصدر: Neuropediatrics. 44
مصطلحات موضوعية: Genetics, Mitochondrial respiratory chain, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, business, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::873ecb29f9f95486da4e1880169efbe6
https://doi.org/10.1055/s-0033-1337715 -
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المؤلفون: Daniel C. Cattran, Andrew D. Paterson, Holger Prokisch, Shawn Levy, Julian Esteve-Rudd, Birgit Haberberger, Mohamed H Al-Hamed, Weibin Zhou, Catherine F. Clarke, Humphrey Fang, Pierre Cochat, Robert Kleta, Susan J. Allen, Sherif El Desoky, Faysal Gok, Xuewen Song, Richard P. Lifton, Corinne Antignac, Moumita Barua, Friedhelm Hildebrandt, Carmen Avila-Casado, Agnieszka Bierzynska, David S. Williams, Detlef Bockenhauer, Duygu Övünç Hacıhamdioğlu, Roger C. Wiggins, Svjetlana Lovric, Jameela A. Kari, Shazia Ashraf, Edgar A. Otto, Martin R. Pollak, Rannar Airik, Heon Yung Gee, Letian X. Xie, Virginia Vega-Warner, Moin A. Saleem, Zhe Han, Murim Choi, York Pei, Joseph Washburn, Jonathan Evans, Christine Bole-Feysot, Patrick Nitschké, Stéphanie Woerner, Leonardo Salviati
المصدر: The Journal of clinical investigation, vol 123, iss 12
J. Clin. Invest. 123, 5179-5189 (2013)مصطلحات موضوعية: Nephrotic Syndrome, Ubiquinone, DNA Mutational Analysis, Drug Resistance, Sequence Homology, medicine.disease_cause, Medical and Health Sciences, Podocyte, Consanguinity, Adrenal Cortex Hormones, COQ6, 2.1 Biological and endogenous factors, Drosophila Proteins, Exome, Adolescent, Amino Acid Sequence, Animals, Cells, Cultured, Child, Conserved Sequence, Disease Models, Animal, Fibroblasts, Gene Knockdown Techniques, Humans, Mitochondria, Molecular Sequence Data, Mutation, Podocytes, Protein Kinases, Rats, Sequence Alignment, Sequence Homology, Amino Acid, Young Adult, Zebrafish, Zebrafish Proteins, Aetiology, Gene knockdown, Cultured, food and beverages, General Medicine, Respiratory enzyme, Amino Acid, medicine.anatomical_structure, Cells, Immunology, Renal and urogenital, Biology, Frameshift mutation, Clinical Research, Complementary and Integrative Health, Genetics, medicine, Animal, Molecular biology, Steroid-resistant nephrotic syndrome, Disease Models, Commentary, ADCK3
وصف الملف: application/pdf
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المؤلفون: Christopher B. Jackson, Matthias Gautschi, Holger Prokisch, Birgit Haberberger, Dagmar Hahn, André Schaller, Sabina Gallati, Annemarie Häberli, Jean-Marc Nuoffer
مصطلحات موضوعية: Mitochondrial Diseases, SDHB, Molecular Sequence Data, SDHA, Genes, Recessive, Gene mutation, Biology, Compound heterozygosity, Fatal Outcome, Germline mutation, Mitochondrial Encephalomyopathies, Genetics, Humans, Amino Acid Sequence, Child, Genetics (clinical), Electron Transport Complex II, Molecular biology, ddc, Succinate Dehydrogenase, Complementation, Mitochondrial respiratory chain, Mutation, Female, SDHD, Sequence Alignment, Metabolism, Inborn Errors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f04cc9467896ed69128b5d0330870a
https://mediatum.ub.tum.de/doc/1416517/document.pdf -
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المؤلفون: Agnès Rötig, Massimo Zeviani, Johannes Koch, Federica Invernizzi, Valeria Tiranti, Thomas Meitinger, Ivo Barić, Rita Horvath, Arcangela Iuso, Wolfgang Sperl, Ingo Hillier, Johannes A Mayr, Uwe Ahting, Graziella Uziel, Marketa Tesarova, Martin Freitag, Boris Rolinski, Rene Drost, Florence Madignier, Tobias B. Haack, Martina Herzer, Peter Freisinger, Holger Prokisch, Birgit Haberberger, Katharina Danhauser, Eleonora Lamantea
المصدر: Journal of medical genetics. 49(2)
مصطلحات موضوعية: medicine.medical_specialty, Candidate gene, Mitochondrial DNA, Mitochondrial Diseases, Mitochondrial disease, DNA Mutational Analysis, Biology, medicine.disease_cause, Genetic Heterogeneity, Molecular genetics, Genetics, medicine, Humans, Gene, Genetics (clinical), Mutation, Electron Transport Complex I, Genetic heterogeneity, NADH Dehydrogenase, medicine.disease, NDUFB9, mitochondriopathy, complex I, Mitochondrial, ddc, High-Throughput Screening Assays, Phenotype, Genes, Mitochondrial, Genes
وصف الملف: application/pdf
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المؤلفون: Holger Prokisch, Graziella Uziel, Birgit Haberberger, Boris Rolinski, Thomas Meitinger, M Zeviani, T Schmidt, Peter Freisinger, Ilka Wittig, J Hoser, Saskia Biskup, Tobias B. Haack, Katharina Danhauser
المصدر: Neuropediatrics. 42
مصطلحات موضوعية: Genetics, Disease gene, MITOCHONDRIAL COMPLEX I DEFICIENCY, Acquired immunodeficiency syndrome (AIDS), business.industry, Pediatrics, Perinatology and Child Health, medicine, Identification (biology), Neurology (clinical), General Medicine, medicine.disease, business, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::affc7a53d8c61641a224d81a56192783
https://doi.org/10.1055/s-0031-1274045
