检索结果 - Christopher J. Carroll

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  1. 1
    Next‐generation sequencing for mitochondrial disorders

    Next‐generation sequencing for mitochondrial disorders 由 Christopher J. Carroll, Virginia Brilhante, Anu Suomalainen

    出版 2013
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    Revisão
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  2. 2
    Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome

    Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome 由 Sanna Matilainen, Christopher J. Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen

    出版 2017
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  3. 3
    The Selective Sphingosine 1-Phosphate Receptor Modulator Etrasimod Regulates Lymphocyte Trafficking and Alleviates Experimental Colitis

    The Selective Sphingosine 1-Phosphate Receptor Modulator Etrasimod Regulates Lymphocyte Trafficking and Alleviates Experimental Colitis 由 Hussien Al‐Shamma, Karin Lehmann‐Bruinsma, Christopher J. Carroll, Michelle Solomon, H. Kiyomi Komori, Laurent Peyrin–Biroulet, John W. Adams

    出版 2019
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    Artigo
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  4. 4
    Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin <scp>B</scp>3

    Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin <scp>B</scp>3 由 Nahid Khan, Mari Auranen, Ilse Paetau, Eija Pirinen, Liliya Euro, Saara Forsström, Lotta Pasila, Vidya Velagapudi, Christopher J. Carroll, Johan Auwerx, Anu Suomalainen

    出版 2014
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    Artigo
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  5. 5
    Effects of Polyclonal IgG Derived from Patients with Different Clinical Types of the Antiphospholipid Syndrome on Monocyte Signaling Pathways

    Effects of Polyclonal IgG Derived from Patients with Different Clinical Types of the Antiphospholipid Syndrome on Monocyte Signaling Pathways 由 Anastasia Lambrianides, Christopher J. Carroll, Silvia S. Pierangeli, Charis Pericleous, Ware Branch, Jurhee Rice, David S. Latchman, Paul A. Townsend, David Isenberg, Anisur Rahman, Ian Giles

    出版 2010
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  6. 6
    Urocortin prevents mitochondrial permeability transition in response to reperfusion injury indirectly by reducing oxidative stress

    Urocortin prevents mitochondrial permeability transition in response to reperfusion injury indirectly by reducing oxidative stress 由 Paul A. Townsend, Sean M. Davidson, Samantha J. Clarke, Igor Khaliulin, Christopher J. Carroll, Tiziano M. Scarabelli, Richard A. Knight, Anastasis Stephanou, David S. Latchman, Andrew P. Halestrap

    出版 2007
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  7. 7
    Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers

    Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers 由 Jana Buzková, Joni Nikkanen, Sofia Ahola, Anna H. Hakonen, Ksenia Sevastianova, Topi Hovinen, Hannele Yki‐Järvinen, Kirsi H. Pietiläinen, Tuula Lönnqvist, Vidya Velagapudi, Christopher J. Carroll, Anu Suomalainen

    出版 2018
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  8. 8
    Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

    Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy 由 Jenni M. Elo, Srujana S. Yadavalli, Liliya Euro, Pirjo Isohanni, Alexandra Götz, Christopher J. Carroll, Leena Valanne, Fowzan S. Alkuraya, Johanna Uusimaa, Anders Paetau, Eric M. Caruso, Helena Pihko, Michael Ibba, Henna Tyynismaa, Anu Suomalainen

    出版 2012
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    Artigo
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  9. 9
    Genetic Basis of Severe Childhood-Onset Cardiomyopathies

    Genetic Basis of Severe Childhood-Onset Cardiomyopathies 由 Catalina Vasilescu, Tiina Ojala, Virginia Brilhante, Simo Ojanen, Helena Hinterding, Eino Palin, Tero‐Pekka Alastalo, Juha Koskenvuo, Anita Hiippala, Eero Jokinen, Timo Jahnukainen, Jouko Lohi, Jaana Pihkala, Tiina Tyni, Christopher J. Carroll, Anu Suomalainen

    出版 2018
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  10. 10
    N-Oleoyldopamine Enhances Glucose Homeostasis through the Activation of GPR119

    N-Oleoyldopamine Enhances Glucose Homeostasis through the Activation of GPR119 由 Zhi‐Liang Chu, Christopher J. Carroll, Ruoping Chen, Jean Alfonso, Verónica Gutiérrez, Hongmei He, Annette Lucman, Charles Xing, Kristen Sebring, Jinyao Zhou, Brandee Wagner, David J. Unett, Robert M. Jones, Dominic P. Behan, James Leonard

    出版 2009
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  11. 11
    Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions

    Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions 由 Saara Forsström, Christopher B. Jackson, Christopher J. Carroll, Mervi Kuronen, Eija Pirinen, Swagat Pradhan, Anastasiia Marmyleva, Mari Auranen, Iida-Marja Kleine, Nahid Khan, Anne Roivainen, Päivi Marjamäki, Heidi Liljenbäck, Liya Wang, Brendan J. Battersby, Uwe Richter, Vidya Velagapudi, Joni Nikkanen, Liliya Euro, Anu Suomalainen

    出版 2019
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  12. 12
    Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

    Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism 由 Joni Nikkanen, Saara Forsström, Liliya Euro, Ilse Paetau, Rebecca A. Kohnz, Liya Wang, Dmitri Chilov, Jenni Viinamäki, Anne Roivainen, Päivi Marjamäki, Heidi Liljenbäck, Sofia Ahola, Jana Buzková, Mügen Terzioglu, Nahid Khan, Sini Pirnes-Karhu, Anders Paetau, Tuula Lönnqvist, Antti Sajantila, Pirjo Isohanni, Henna Tyynismaa, Daniel K. Nomura, Brendan J. Battersby, Vidya Velagapudi, Christopher J. Carroll, Anu Suomalainen

    出版 2016
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  13. 13
    SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

    SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease 由 Philipp Gut, Sanna Matilainen, Jesse G. Meyer, Pieti W. Pallijeff, J. Wall Richard, Christopher J. Carroll, Liliya Euro, Christopher B. Jackson, Pirjo Isohanni, Berge A. Minassian, Reem A. Alkhater, Elsebet Østergaard, Gabriele Civiletto, Alice Parisi, Jonathan Thévenet, Matthew J. Rardin, Wenjuan He, Yuya Nishida, John C. Newman, Xiaojing Liu, Stefan Christen, Sofia Moco, Jason W. Locasale, Birgit Schilling, Anu Suomalainen, Eric Verdin

    出版 2020
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  14. 14
    Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

    Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy 由 Tobias B. Haack, Erika Ignatius, Javier Calvo‐Garrido, Arcangela Iuso, Pirjo Isohanni, Camilla Maffezzini, Tuula Lönnqvist, Anu Suomalainen, Matteo Gorza, Laura S. Kremer, Elisabeth Graf, Monika Hartig, Riccardo Berutti, Martin Paucar, Per Svenningsson, Henrik Stranneheim, Göran Brandberg, Anna Wedell, Manju A. Kurian, Susan Hayflick, Paola Venco, Valeria Tiranti, Tim M. Strom, Martin Dichgans, Rita Horváth, Elke Holinski‐Feder, Christoph Freyer, Thomas Meitinger, Holger Prokisch, Jan Senderek, Anna Wredenberg, Christopher J. Carroll, Thomas Klopstock

    出版 2016
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  15. 15
    Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

    Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia 由 Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St‐Denis, Guoliang Chai, Norbert Fonya Ajeawung, Laura Fairbrother, Tyler Reimschisel, Alexandra Bateman, Elizabeth Berry‐Kravis, Fan Xia, Jessica Tardif, David Parry, Clare V. Logan, Christine P. Diggle, Christopher Bennett, Louise Hattingh, Jill A. Rosenfeld, Μ. Scott Perry, Michael Parker, Françoise Le Deist, Maha S. Zaki, Erika Ignatius, Pirjo Isohanni, Tuula Lönnqvist, Christopher J. Carroll, Colin A. Johnson, Joseph G. Gleeson, Taroh Kinoshita, Philippe M. Campeau

    出版 2017
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  16. 16
    Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

    Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency 由 Huw B. Thomas, Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea, Thashi Bharadwaj, Thomas B. Smith, Monika Oláhová, Kyle Thompson, Langping He, Namanpreet Kaur, Anju Shukla, Musaad Abukhalid, Muhammad Ansar, Sakina Rehman, Saima Riazuddin, Firdous Abdulwahab, Janine Smith, Zornitza Stark, Hanifenur Mancılar, Sait Tümer, Fatma Nisa Esen, Eyyüp Üçtepe, Vehap Topçu, Ahmet Yeşilyurt, Erum Afzal, Mehri Salari, Christopher J. Carroll, Giovanni Zifarelli, Peter Bauer, Deniz Kör, Fatma Derya Bulut, Henry Houlden, Reza Maroofian, Samantha Carrera, Wyatt W. Yue, Kevin J. Munro, Fowzan S. Alkuraya, Peter Jamieson, Zubair M. Ahmed, Suzanne M. Leal, Robert W. Taylor, Ilka Wittig, Raymond T. O’Keefe, William G. Newman

    出版 2025
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  17. 17
    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals 由 Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gülsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yılmaz, Seda Kanmaz, Hepsen Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhaş, Tamison Jewett, Rachel Goldberg, Hanan E. Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gözde Yeşil, Esma Şengenç, Serhat Güler, Mariam Hull, Mered Parnes, Dilek Aktaş, Banu Anlar, Yavuz Bayram, Davut Pehli̇van, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama AlAbdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André EX Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto

    出版 2022
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