Search Results - "de Coo, R"

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis by Dlamini, N, Voermans, N.C, Lillis, S, Stewart, K, Kamsteeg, E.-J, Drost, G, Quinlivan, R, Snoeck, M, Norwood, F, Radunovic, A, Straub, V, Roberts, M, Vrancken, A.F.J.E, van der Pol, W.L, de Coo, R.I.F.M, Manzur, A.Y, Yau, S, Abbs, S, King, A, Lammens, M, Hopkins, P.M, Mohammed, S, Treves, S, Muntoni, F, Wraige, E, Davis, M.R, van Engelen, B, Jungbluth, H

“…Abstract Mutations in the skeletal muscle ryanodine receptor ( RYR1 ) gene are a common cause of neuromuscular disease, ranging from various congenital…”
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The impact of gender, puberty, and pregnancy in patients with POLG disease by Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Samsonsen, Christian, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Rene, Pias‐Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

“…Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods…”
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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients by Carrozzo, Rosalba, Verrigni, Daniela, Rasmussen, Magnhild, de Coo, Rene, Amartino, Hernan, Bianchi, Marzia, Buhas, Daniela, Mesli, Samir, Naess, Karin, Born, Alfred Peter, Woldseth, Berit, Prontera, Paolo, Batbayli, Mustafa, Ravn, Kirstine, Joensen, Fróði, Cordelli, Duccio M., Santorelli, Filippo Maria, Tulinius, Mar, Darin, Niklas, Duno, Morten, Jouvencel, Philippe, Burlina, Alberto, Stangoni, Gabriela, Bertini, Enrico, Redonnet-Vernhet, Isabelle, Wibrand, Flemming, Dionisi-Vici, Carlo, Uusimaa, Johanna, Vieira, Paivi, Osorio, Andrés Nascimento, McFarland, Robert, Taylor, Robert W., Holme, Elisabeth, Ostergaard, Elsebet

“…Background The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by…”
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Refinement of the chromosome 16 locus for benign familial infantile convulsions by Callenbach, PMC, Van Den Boogerd, EH, De Coo, RFM, Ten Houten, R, Oosterwijk, JC, Hageman, G, Frants, RR, Brouwer, OF, Van Den Maagdenberg, AMJM

“…Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of…”
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Interrater agreement of the diagnosis and classification of a first seizure in childhood. The Dutch Study of Epilepsy in Childhood by Stroink, H, van Donselaar, C A, Geerts, A T, Peters, A C B, Brouwer, O F, van Nieuwenhuizen, O, de Coo, R F M, Geesink, H, Arts, W F M

“…Objective: To assess the interrater agreement of the diagnosis and the classification of a first paroxysmal event in childhood. Methods: The descriptions of…”
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Pitfalls in the diagnosis of multiple sulfatase deficiency by Mancini, G M, van Diggelen, O P, Huijmans, J G, Stroink, H, de Coo, R F

“…Multiple sulfatase deficiency (MSD, OMIM 272200) is an autosomal recessive leukodystrophy associated with the deficiency of several, in total seven,…”
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Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status by Domburg, P. H. M. F. van, Gabreëls-Festen, A. A. W. M., Gabreëls, F. J. M., Coo, R. de, Ruitenbeek, W., Wesseling, P., Laak, H. ter

“…Summary We present six adult patients from three separate families, with a remarkably uniform heredo-ataxic syndrome, developing in three stages and ending in…”
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C.P.3 Genetic and clinical heterogeneity of RYR1-related myopathies in a cohort of 60 Dutch families with identification of 40 novel mutations by Voermans, N.C, Jungbluth, H, Raaphorst, J, Snoeck, M, Straathof, C, Schelhaas, H.J, Sie, L, de Coo, R, van de Pol, W, de Visser, M, Scheffer, H, Kamsteeg, E.J, van Engelen, B.G.M

“…Abstract RYR1-related myopathies have a very variable phenotype. Sequential analysis of RYR1 in the Netherlands has been performed since 2008. Our goal was to…”
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Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene by de Coo, René, Buddiger, Paul, Smeets, Hubert, van Kessel, Ad Geurts, Morgan-Hughes, John, Weghuis, Daniël Olde, Overhauser, Joan, van Oost, Bernard

“…Two distinct loci for the 24-kDa subunit of the mitochondrial NADH:ubiquinone oxidoreductase (complex I of the respiratory chain) were detected in the human…”
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Molecular Cloning and Characterization of the Human Mitochondrial NADH:Oxidoreductase 10-kDa Gene (NDUFV3) by de Coo, René F.M., Buddiger, Paul, Smeets, Hubert J.M., van Oost, Bernard A.

“…The human gene for the 10-kDa flavoprotein subunit of the mitochondrial NADH:ubiquinone oxidoreductase (Complex I) was completely cloned and sequenced. The…”
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Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease by SISTERMANS, E. A, DE COO, R. F. M, DE WIJS, I. J, VAN OOST, B. A

“…Pelizaeus-Merzbacher disease (PMD), an X-linked recessive dysmyelination disorder, is caused by mutations in the proteolipid protein (PLP) gene. However,…”
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Significance of Respirasomes for the Assembly/Stability of Human Respiratory Chain Complex I by Schägger, Hermann, de Coo, René, Bauer, Matthias F, Hofmann, Sabine, Godinot, Catherine, Brandt, Ulrich

“…We showed that the human respiratory chain is organized in supramolecular assemblies of respiratory chain complexes, the respirasomes. The mitochondrial…”
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Changes in Globus Pallidus With (Pre)Term Kernicterus by Govaert, Paul, Lequin, Maarten, Swarte, Renate, Robben, Simon, De Coo, Rene, Weisglas-Kuperus, Nynke, De Rijke, Yolanda, Sinaasappel, Maarten, Barkovich, James

“…We report serial magnetic resonance (MR) and sonographic behavior of globus pallidus in 5 preterm and 3 term infants with kernicterus and describe the clinical…”
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A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family by SISTERMANS, E. A, DE WIJS, I. J, DE COO, R. F. M, SMIT, L. M. E, MENKO, F. H, VAN OOST, B. A

“…Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder that is characterized by dysmyelination of the central nervous system resulting from…”
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Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells by Raap, A. K., Jahangir Tafrechi, R. S., van de Rijke, F. M., Pyle, A., Wählby, Carolina, Szuhai, K., Ravelli, R. B. G., de Coo, R. F. M., Rajasimha, H. K., Nilsson, Mats, Chinnery, P. F., Samuels, D. C., Janssen, G. M. C.

“…Many pathogenic mitochondrial DNA mutations are heteroplasmic, with a mixture of mutated and wild-type mtDNA present within individual cells. The severity and…”
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Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography by van Den Bosch, B J, de Coo, R F, Scholte, H R, Nijland, J G, van Den Bogaard, R, de Visser, M, de Die-Smulders, C E, Smeets, H J

“…In patients with mitochondrial disease a continuously increasing number of mitochondrial DNA (mtDNA) mutations and polymorphisms have been identified. Most…”
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Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems by Brooks, Alice S., Bertoli-Avella, Aida M., Burzynski, Grzegorz M., Breedveld, Guido J., Osinga, Jan, Boven, Ludolf G., Hurst, Jane A., Mancini, Grazia M.S., Lequin, Maarten H., de Coo, Rene F., Matera, Ivana, de Graaff, Esther, Meijers, Carel, Willems, Patrick J., Tibboel, Dick, Oostra, Ben A., Hofstra, Robert M.W.

“…We identified, by homozygosity mapping, a novel locus on 10q21.3-q22.1 for Goldberg-Shprintzen syndrome (GOSHS) in a consanguineous Moroccan family. Phenotypic…”
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Influence of Mutation Type on Clinical Expression of Leber Hereditary Optic Neuropathy by Spruijt, Liesbeth, Kolbach, Dinanda N., de Coo, Rene F., Plomp, Astrid S., Bauer, Noel J., Smeets, Hubertus J., de Die-Smulders, Christine E.M.

“…The aim of this research was to determine the molecular factors of influence on the clinical expression of Leber hereditary optic neuropathy (LHON), which…”
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Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts by Procaccio, V, Mousson, B, Beugnot, R, Duborjal, H, Feillet, F, Putet, G, Pignot-Paintrand, I, Lombès, A, De Coo, R, Smeets, H, Lunardi, J, Issartel, J P

“…We have studied complex I (NADH-ubiquinone reductase) defects of the mitochondrial respiratory chain in 2 infants who died in the neonatal period from 2…”
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Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population by Sistermans, E A, de Coo, R F, van Beerendonk, H M, Poll-The, B T, Kleijer, W J, van Oost, B A

“…Canavan disease is a severe progressive autosomal recessive disorder, which is characterised by spongy degeneration of the brain. The disease is caused by…”
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