Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
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
Published in Neuromuscular disorders : NMD (01.07.2013)
Published in Neuromuscular disorders : NMD (01.07.2013)
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Refinement of the chromosome 16 locus for benign familial infantile convulsions
Callenbach, PMC, Van Den Boogerd, EH, De Coo, RFM, Ten Houten, R, Oosterwijk, JC, Hageman, G, Frants, RR, Brouwer, OF, Van Den Maagdenberg, AMJM
Published in Clinical genetics (01.06.2005)
Published in Clinical genetics (01.06.2005)
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Interrater agreement of the diagnosis and classification of a first seizure in childhood. The Dutch Study of Epilepsy in Childhood
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
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2004)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2004)
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Pitfalls in the diagnosis of multiple sulfatase deficiency
Mancini, G M, van Diggelen, O P, Huijmans, J G, Stroink, H, de Coo, R F
Published in Neuropediatrics (01.02.2001)
Published in Neuropediatrics (01.02.2001)
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Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells
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.
Published in PloS one (2012)
Published in PloS one (2012)
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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
Sistermans, E A, de Wijs, I J, de Coo, R F, Smit, L M, Menko, F H, van Oost, B A
Published in Human genetics (01.03.1996)
Published in Human genetics (01.03.1996)
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