Resultats de la cerca - 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 per Hermann Schägger, I.F.M. de Coo, Matthias Bauer, Sabine Hofmann, Catherine Godinot, Ulrich Brandt

    Publicat 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 per Rana Yadak, Peter Sillevis Smitt, Marike W. van Gisbergen, Niek P. van Til, I.F.M. de Coo

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

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

    Publicat 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 per Konstantin Dimitriadis, Miriam Leonhardt, Patrick Yu‐Wai‐Man, Matthew A. Kirkman, Alex Korsten, I.F.M. de Coo, Patrick F. Chinnery, Thomas Klopstock

    Publicat 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 per 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

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

    Changes in Globus Pallidus With (Pre)Term Kernicterus per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

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

    The unfolding clinical spectrum of POLG mutations per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 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 per 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

    Publicat 2011
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