Resultados de procura - I.F.M. de Coo

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  1. 1
    Significance of Respirasomes for the Assembly/Stability of Human Respiratory Chain Complex I

    Significance of Respirasomes for the Assembly/Stability of Human Respiratory Chain Complex I por Hermann Schägger, I.F.M. de Coo, Matthias Bauer, Sabine Hofmann, Catherine Godinot, Ulrich Brandt

    Publicado 2004
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  2. 2
    Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options

    Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options por Rana Yadak, Peter Sillevis Smitt, Marike W. van Gisbergen, Niek P. van Til, I.F.M. de Coo

    Publicado 2017
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  3. 3
    Gene–environment interactions in Leber hereditary optic neuropathy

    Gene–environment interactions in Leber hereditary optic neuropathy por Matthew A. Kirkman, Patrick Yu‐Wai‐Man, Alex Korsten, Miriam Leonhardt, Konstantin Dimitriadis, I.F.M. de Coo, Thomas Klopstock, Patrick F. Chinnery

    Publicado 2009
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  4. 4
    Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients

    Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients por Konstantin Dimitriadis, Miriam Leonhardt, Patrick Yu‐Wai‐Man, Matthew A. Kirkman, Alex Korsten, I.F.M. de Coo, Patrick F. Chinnery, Thomas Klopstock

    Publicado 2014
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  5. 5
    Blood biomarkers for assessment of mitochondrial dysfunction: An expert review

    Blood biomarkers for assessment of mitochondrial dysfunction: An expert review por Wouter Hubens, Antoni Vallbona-Garcia, I.F.M. de Coo, Florence H. J. van Tienen, Casper Webers, Hubert J.M. Smeets, T. G. M. F. Gorgels

    Publicado 2021
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  6. 6
    Changes in Globus Pallidus With (Pre)Term Kernicterus

    Changes in Globus Pallidus With (Pre)Term Kernicterus por Paul Govaert, Maarten H. Lequin, Renate Swarte, Simon G. F. Robben, I.F.M. de Coo, Nynke Weisglas‐Kuperus, Yolanda B. de Rijke, M. Sinaasappel, James Barkovich

    Publicado 2003
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  7. 7
    COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux

    COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux por Scot C. Leary, Paul A. Cobine, Tamiko Nishimura, Robert M. Verdijk, Ronald R. de Krijger, I.F.M. de Coo, Mark A. Tarnopolsky, Dennis R. Winge, Eric A. Shoubridge

    Publicado 2013
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  8. 8
    Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography

    Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography por B.J.C. van den Bosch, I.F.M. de Coo, H.R. Scholte, Jeroen G. Nijland, R. van den Bogaard, Marjolein Visser, Christine de Die‐Smulders, H. J. M. Smeets

    Publicado 2000
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  9. 9
    Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

    Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects por Marja W. Wessels, Johanna C. Herkert, Ingrid M.E. Frohn-Mulder, Michiel Dalinghaus, Arthur van den Wijngaard, Ronald R. de Krijger, Michelle Michels, I.F.M. de Coo, Yvonne M. Hoedemaekers, Dennis Dooijes

    Publicado 2014
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  10. 10
    How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models

    How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models por Marike W. van Gisbergen, A.M. Voets, Maud H. W. Starmans, I.F.M. de Coo, Rana Yadak, Roland F. Hoffmann, Paul C. Boutros, Hubert J.M. Smeets, Ludwig J. Dubois, Philippe Lambin

    Publicado 2015
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  11. 11
    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors por Juan Darío Ortigoza‐Escobar, Majid Alfadhel, Marta Molero‐Luis, Niklas Darín, Ronen Spiegel, I.F.M. de Coo, Mike Gerards, Robert W. Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodríguez‐Pombo, Brahim Tabarki, Belén Pérez‐Dueñas

    Publicado 2017
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  12. 12
    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases por Omar Hikmat, K Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal Tallaksen, Eylert Brodtkorb, Elsebet Østergaard, I.F.M. de Coo, Leticia Pías‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darín, Shamima Rahman, Laurence A. Bindoff

    Publicado 2020
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  13. 13
    A multicenter study on Leigh syndrome: disease course and predictors of survival

    A multicenter study on Leigh syndrome: disease course and predictors of survival por Kalliopi Sofou, I.F.M. de Coo, Pirjo Isohanni, Elsebet Østergaard, K Naess, Linda De Meırleır, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist, Helena Pihko, Katariina Mankinen, Laurence A. Bindoff, M. Tulinius, Niklas Darín

    Publicado 2014
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  14. 14
    Physical Activity Is the Key Determinant of Skeletal Muscle Mitochondrial Function in Type 2 Diabetes

    Physical Activity Is the Key Determinant of Skeletal Muscle Mitochondrial Function in Type 2 Diabetes por Florence H. J. van Tienen, Stephan Praet, Henk M. De Feyter, Nicole M. van den Broek, Patrick Lindsey, Kees Schoonderwoerd, I.F.M. de Coo, Klaas Nicolay, Jeanine J. Prompers, Hubert J.M. Smeets, Luc J. C. van Loon

    Publicado 2012
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  15. 15
    Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder

    Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder por Gavin Hudson, Sharon Keers, Patrick Yu Wai Man, Philip G. Griffiths, Kirsi Huoponen, Marja-Liisa Savontaus, Eeva Nikoskelainen, Massimo Zeviani, Franco Carrara, Rita Horváth, Veronika Karcagi, Liesbeth Spruijt, I.F.M. de Coo, Hubert J.M. Smeets, Patrick F. Chinnery

    Publicado 2005
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  16. 16
    Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

    Defective NDUFA9 as a novel cause of neonatally fatal complex I disease por B.J.C. van den Bosch, Mike Gerards, Wim J. Sluiter, Alexander P.A. Stegmann, Eveline Jongen, Debby M.E.I. Hellebrekers, Renske Oegema, Ellen Lambrichs, Holger Prokisch, Katharina Danhauser, Kees Schoonderwoerd, I.F.M. de Coo, Hubert J.M. Smeets

    Publicado 2011
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  17. 17
    The unfolding clinical spectrum of POLG mutations

    The unfolding clinical spectrum of POLG mutations por Marinus J. Blok, B.J.C. van den Bosch, Eveline Jongen, Alexandra T.M. Hendrickx, C E de Die-Smulders, Jessica E. Hoogendijk, Esther Brusse, Marjolein Visser, Bwee Tien Poll‐The, Jörgen Bierau, I.F.M. de Coo, H J Smeets

    Publicado 2009
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  18. 18
    De novo mtDNA point mutations are common and have a low recurrence risk

    De novo mtDNA point mutations are common and have a low recurrence risk por Suzanne C.E.H. Sallevelt, Christine de Die‐Smulders, Alexandra T.M. Hendrickx, Debby M.E.I. Hellebrekers, I.F.M. de Coo, Charlotte L. Alston, Charlotte V. Y. Knowles, Robert W. Taylor, Robert McFarland, Hubert J.M. Smeets

    Publicado 2016
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  19. 19
    COL4A2 mutation associated with familial porencephaly and small-vessel disease

    COL4A2 mutation associated with familial porencephaly and small-vessel disease por Elly Verbeek, Marije Meuwissen, Frans W. Verheijen, Paul Govaert, Daniel J. Licht, Debbie S. Kuo, Cathryn Poulton, Rachel Schot, Maarten H. Lequin, Jeroen Dudink, Dicky Halley, I.F.M. de Coo, Jan C. den Hollander, Renske Oegema, Douglas B. Gould, Grazia M.S. Mancini

    Publicado 2012
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  20. 20
    Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect

    Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect por Jiddeke M. van de Kamp, Petra J. W. Pouwels, Femke K. Aarsen, Leontine W. ten Hoopen, Dirk L. Knol, Johannes B. de Klerk, I.F.M. de Coo, J. G. M. Huijmans, Cornelis Jakobs, Marjo S. van der Knaap, Gajja S. Salomons, Grazia M.S. Mancini

    Publicado 2011
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