Rezultati - I.F.M. de Coo
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Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients od Konstantin Dimitriadis, Miriam Leonhardt, Patrick Yu‐Wai‐Man, Matthew A. Kirkman, Alex Korsten, I.F.M. de Coo, Patrick F. Chinnery, Thomas Klopstock
Izdano 2014Artigo -
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COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux od 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
Izdano 2013Artigo -
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Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography od 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
Izdano 2000Artigo -
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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects od 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
Izdano 2014Artigo -
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How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models od 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
Izdano 2015Revisão -
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Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors od 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
Izdano 2017Artigo -
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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases od 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
Izdano 2020Artigo -
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A multicenter study on Leigh syndrome: disease course and predictors of survival od 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
Izdano 2014Artigo -
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Physical Activity Is the Key Determinant of Skeletal Muscle Mitochondrial Function in Type 2 Diabetes od 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
Izdano 2012Artigo -
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Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder od 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
Izdano 2005Artigo -
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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease od 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
Izdano 2011Artigo -
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The unfolding clinical spectrum of POLG mutations od 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
Izdano 2009Artigo -
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De novo mtDNA point mutations are common and have a low recurrence risk od 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
Izdano 2016Artigo -
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COL4A2 mutation associated with familial porencephaly and small-vessel disease od 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
Izdano 2012Artigo -
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Long‐term follow‐up and treatment in nine boys with X‐linked creatine transporter defect od 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
Izdano 2011Artigo
Iskalna orodja:
Sorodne teme
Biology
Medicine
Gene
Genetics
Internal medicine
Mutation
Mitochondrial DNA
Disease
Pediatrics
Phenotype
Cohort
Mitochondrial disease
Neuroscience
Pathology
Biochemistry
Bioinformatics
Epilepsy
Exome sequencing
Genotype
Missense mutation
Ataxia
Environmental health
Leber's hereditary optic neuropathy
Mitochondrial myopathy
Optic nerve
Optic neuropathy
Point mutation
Population
Age of onset
Cancer