Hasil Pencarian - Holger Prokisch

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  1. 1
    Corrigendum: ncRNAs: New Players in Mitochondrial Health and Disease?

    Corrigendum: ncRNAs: New Players in Mitochondrial Health and Disease? oleh Mirjana Gusic, Mirjana Gusic, Mirjana Gusic, Holger Prokisch, Holger Prokisch

    Diterbitkan 2020-03-01
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  2. 2
    ncRNAs: New Players in Mitochondrial Health and Disease?

    ncRNAs: New Players in Mitochondrial Health and Disease? oleh Mirjana Gusic, Mirjana Gusic, Mirjana Gusic, Holger Prokisch, Holger Prokisch

    Diterbitkan 2020-02-01
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  3. 3
    The Dimensions of Primary Mitochondrial Disorders

    The Dimensions of Primary Mitochondrial Disorders oleh Lea D. Schlieben, Lea D. Schlieben, Holger Prokisch, Holger Prokisch

    Diterbitkan 2020-11-01
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  4. 4
    Digenic Inheritance in Rare Disorders and Mitochondrial Disease—Crossing the Frontier to a More Comprehensive Understanding of Etiology

    Digenic Inheritance in Rare Disorders and Mitochondrial Disease—Crossing the Frontier to a More Comprehensive Understanding of Etiology oleh Christiane M. Neuhofer, Holger Prokisch

    Diterbitkan 2024-04-01
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  5. 5
    Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

    Genetics of mitochondrial diseases: Identifying mutations to help diagnosis oleh Sarah L. Stenton, Holger Prokisch

    Diterbitkan 2020-06-01
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  6. 6
    Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency

    Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency oleh Ling Zhou, Jie Deng, Sarah L. Stenton, Sarah L. Stenton, Ji Zhou, Hua Li, Chunhong Chen, Holger Prokisch, Holger Prokisch, Holger Prokisch, Fang Fang

    Diterbitkan 2020-12-01
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  7. 7
    RNA sequencing role and application in clinical diagnostic

    RNA sequencing role and application in clinical diagnostic oleh Fatemeh Peymani, Aiman Farzeen, Holger Prokisch

    Diterbitkan 2022-03-01
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  8. 8
    Mitochondrial replacement approaches: challenges for clinical implementation

    Mitochondrial replacement approaches: challenges for clinical implementation oleh Thomas Klopstock, Barbara Klopstock, Holger Prokisch

    Diterbitkan 2016-11-01
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  9. 9
    How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data

    How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data oleh Lea D. Schlieben, Lea D. Schlieben, Holger Prokisch, Holger Prokisch, Vicente A. Yépez, Vicente A. Yépez

    Diterbitkan 2021-06-01
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  10. 10
    Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

    Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient oleh Rui Ban, Rui Ban, Zhimei Liu, Masaru Shimura, Masaru Shimura, Xiao Tong, Junling Wang, Lei Yang, Manting Xu, Jing Xiao, Kei Murayama, Matthias Elstner, Holger Prokisch, Holger Prokisch, Holger Prokisch, Fang Fang

    Diterbitkan 2021-07-01
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  11. 11
    Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers

    Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers oleh Matthias Elstner, Konrad Olszewski, Holger Prokisch, Thomas Klopstock, Marta Murgia

    Diterbitkan 2021-10-01
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  12. 12
    Identification of a Novel Variant in MT-CO3 Causing MELAS

    Identification of a Novel Variant in MT-CO3 Causing MELAS oleh Manting Xu, Manting Xu, Manting Xu, Robert Kopajtich, Robert Kopajtich, Matthias Elstner, Zhaoxia Wang, Zhimei Liu, Junling Wang, Holger Prokisch, Holger Prokisch, Fang Fang

    Diterbitkan 2021-05-01
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  13. 13
    Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

    Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach oleh Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Robert Kopajtich, Holger Prokisch, Judith Armstrong

    Diterbitkan 2023-09-01
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  14. 14
    Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

    Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency oleh Lara M. Marten, Florian Brinkert, Desirée E.C. Smith, Holger Prokisch, Maja Hempel, René Santer

    Diterbitkan 2020-12-01
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  15. 15
    Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration.

    Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration. oleh Arcangela Iuso, Ody C M Sibon, Matteo Gorza, Katharina Heim, Cristina Organisti, Thomas Meitinger, Holger Prokisch

    Diterbitkan 2014-01-01
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  16. 16
    X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>

    X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i> oleh Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, Susanne Kohl, Bernd Wissinger, Holger Prokisch, Katarina Stingl, Nicole Weisschuh

    Diterbitkan 2021-01-01
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  17. 17
    Assessing systems properties of yeast mitochondria through an interaction map of the organelle.

    Assessing systems properties of yeast mitochondria through an interaction map of the organelle. oleh Fabiana Perocchi, Lars J Jensen, Julien Gagneur, Uwe Ahting, Christian von Mering, Peer Bork, Holger Prokisch, Lars M Steinmetz

    Diterbitkan 2006-10-01
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  18. 18
    New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center

    New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center oleh Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann

    Diterbitkan 2024-02-01
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  19. 19
    Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

    Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects oleh Mirko Baglivo, Alessia Nasca, Eleonora Lamantea, Stefano Vinci, Manuela Spagnolo, Silvia Marchet, Holger Prokisch, Alessia Catania, Costanza Lamperti, Daniele Ghezzi

    Diterbitkan 2023-08-01
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  20. 20
    Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730]

    Corrigendum to “Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases” [EBioMedicine 54 (2020) 102730] oleh Jing Tan, Matias Wagner, Sarah L. Stenton, Tim M. Strom, Saskia B. Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock

    Diterbitkan 2020-11-01
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