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	1.	Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options. [electronic resource] by Yadak, Rana Sillevis Smitt, Peter van Gisbergen, Marike W van Til, Niek P de Coo, Irenaeus F M Publication details: Frontiers in cellular neuroscience 2017 In: Frontiers in cellular neuroscience vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation. [electronic resource] by Korsten, Alex de Coo, Irenaeus F M Spruijt, Liesbeth de Wit, L Elly A Smeets, Hubert J M Sluiter, Wim Producer: 20100316 In: Biochimica et biophysica acta vol. 1797 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	KBG syndrome associated with periventricular nodular heterotopia. [electronic resource] by Oegema, Renske Schot, Rachel de Wit, Marie Claire Y Lequin, Maarten H Oostenbrink, Rianne de Coo, Irenaeus F M Mancini, Grazia M S Producer: 20100901 In: Clinical dysmorphology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Combined cardiological and neurological abnormalities due to filamin A gene mutation. [electronic resource] by de Wit, Marie Claire Y de Coo, Irenaeus F M Lequin, Maarten H Halley, Dicky J J Roos-Hesselink, Jolien W Mancini, Grazia M S Producer: 20110516 In: Clinical research in cardiology : official journal of the German Cardiac Society vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis. [electronic resource] by Smeets, Hubert J M Sallevelt, Suzanne C E H Dreesen, Jos C F M de Die-Smulders, Christine E M de Coo, Irenaeus F M Producer: 20151215 In: Annals of the New York Academy of Sciences vol. 1350 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy. [electronic resource] by Nguyen, Minh Boesten, Iris Hellebrekers, Debby M E I Vanoevelen, Jo Kamps, Rick de Koning, Bart de Coo, Irenaeus F M Gerards, Mike Smeets, Hubert J M Producer: 20161213 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Periventricular nodular heterotopia and distal limb deficiency: a recurrent association. [electronic resource] by de Wit, Marie Claire Y de Coo, Irenaeus F M Schot, Rachel Hoogeboom, A Jeannette M Lequin, Maarten H Verkerk, Annemieke J M H Mancini, Grazia M S Producer: 20100708 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency. [electronic resource] by van Vliet, Peter Berden, Annelies E van Schie, Mojca K M Bakker, Jaap A Heringhaus, Christian de Coo, Irenaeus F M Langeveld, Mirjam Schroijen, Marielle A Arbous, M Sesmu Publication details: JIMD reports 2018 In: JIMD reports vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities. [electronic resource] by de Wit, Marie-Claire Y de Rijk-van Andel, Jojanneke Halley, Dicky J Poddighe, Pino J Arts, Willem Frans M de Coo, Irenaeus F M Mancini, Grazia M S Producer: 20110610 In: Developmental medicine and child neurology vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients. [electronic resource] by Sofou, Kalliopi de Coo, Irenaeus F M Ostergaard, Elsebet Isohanni, Pirjo Naess, Karin De Meirleir, Linda Tzoulis, Charalampos Uusimaa, Johanna Lönnqvist, Tuula Bindoff, Laurence Albert Tulinius, Már Darin, Niklas Producer: 20180723 In: Journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study. [electronic resource] by Haast, Roy A M Ivanov, Dimo IJsselstein, Rutger J T Sallevelt, Suzanne C E H Jansen, Jacobus F A Smeets, Hubert J M de Coo, Irenaeus F M Formisano, Elia Uludağ, Kâmil Producer: 20190201 In: NeuroImage. Clinical vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease. [electronic resource] by Schaaf, Gerben J van Gestel, Tom J M Brusse, Esther Verdijk, Robert M de Coo, Irenaeus F M van Doorn, Pieter A van der Ploeg, Ans T Pijnappel, W W M Pim Producer: 20160527 In: Acta neuropathologica communications vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	PRRT2 mutation causes benign familial infantile convulsions. [electronic resource] by de Vries, Boukje Callenbach, Petra M C Kamphorst, Jessica T Weller, Claudia M Koelewijn, Stephany C ten Houten, Robert de Coo, Irenaeus F M Brouwer, Oebo F van den Maagdenberg, Arn M J M Producer: 20130118 In: Neurology vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A multicenter study on Leigh syndrome: disease course and predictors of survival. [electronic resource] by Sofou, Kalliopi De Coo, Irenaeus F M Isohanni, Pirjo Ostergaard, Elsebet Naess, Karin De Meirleir, Linda Tzoulis, Charalampos Uusimaa, Johanna De Angst, Isabell B Lönnqvist, Tuula Pihko, Helena Mankinen, Katariina Bindoff, Laurence A Tulinius, Már Darin, Niklas Producer: 20140926 In: Orphanet journal of rare diseases vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. [electronic resource] by Hellebrekers, Debby M E I Blakely, Emma L Hendrickx, Alexandra T M Hardy, Steven A Hopton, Sila Falkous, Gavin de Coo, Irenaeus F M Smeets, Hubert J M van der Beek, Nadine M E Taylor, Robert W Producer: 20200824 In: Neuromuscular disorders : NMD vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Dietary nitrate does not reduce oxygen cost of exercise or improve muscle mitochondrial function in patients with mitochondrial myopathy. [electronic resource] by Nabben, Miranda Schmitz, Joep P J Ciapaite, Jolita le Clercq, Carlijn M P van Riel, Natal A Haak, Harm R Nicolay, Klaas de Coo, Irenaeus F M Smeets, Hubert Praet, Stephan F van Loon, Luc J Prompers, Jeanine J Producer: 20170818 In: American journal of physiology. Regulatory, integrative and comparative physiology vol. 312 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	De novo mtDNA point mutations are common and have a low recurrence risk. [electronic resource] by Sallevelt, Suzanne C E H de Die-Smulders, Christine E M Hendrickx, Alexandra T M Hellebrekers, Debby M E I de Coo, Irenaeus F M Alston, Charlotte L Knowles, Charlotte Taylor, Robert W McFarland, Robert Smeets, Hubert J M Producer: 20171120 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands. [electronic resource] by Stalpers, Xenia L Verrips, Aad Poll-The, Bwee Tien Cobben, Jan-Maarten Snoeck, Irina N de Coo, Irenaeus F M Brooks, Alice Bulk, Saskia Gooskens, Rob Fock, Annemarie Verschuuren-Bemelmans, Corien Sinke, Richard J de Visser, Marianne Lemmink, Henny H Producer: 20140213 In: Neuromuscular disorders : NMD vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients. [electronic resource] by van Eijsden, Rudy G E Gerards, Mike Eijssen, Lars M T Hendrickx, Alexandra T M Jongbloed, Roselie J E Wokke, John H J Hintzen, Rogier Q Rubio-Gozalbo, Maria E De Coo, Irenaeus F M Briem, Egill Tiranti, Valeria Smeets, Hubert J M Producer: 20070109 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. [electronic resource] by Gerards, Mike van den Bosch, Bianca J C Danhauser, Katharina Serre, Valérie van Weeghel, Michel Wanders, Ronald J A Nicolaes, Gerry A F Sluiter, Wim Schoonderwoerd, Kees Scholte, Hans R Prokisch, Holger Rötig, Agnès de Coo, Irenaeus F M Smeets, Hubert J M Producer: 20110121 In: Brain : a journal of neurology vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 37 results.