RYR1-related myopathies: a wide spectrum of phenotypes throughout life
Snoeck, M., van Engelen, B. G. M., Küsters, B., Lammens, M., Meijer, R., Molenaar, J. P. F., Raaphorst, J., Verschuuren-Bemelmans, C. C., Straathof, C. S. M., Sie, L. T. L., de Coo, I. F., van der Pol, W. L., de Visser, M., Scheffer, H., Treves, S., Jungbluth, H., Voermans, N. C., Kamsteeg, E.-J.
Published in European journal of neurology (01.07.2015)
Published in European journal of neurology (01.07.2015)
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Journal Article
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome
Witting, N., Laforêt, P., Voermans, N. C., Roux‐Buisson, N., Bompaire, F., Rendu, J., Duno, M., Feillet, F., Kamsteeg, E.‐J., Poulsen, N. S., Dahlqvist, J. R., Romero, N. B., Fauré, J., Vissing, J., Behin, A.
Published in Acta neurologica Scandinavica (01.05.2018)
Published in Acta neurologica Scandinavica (01.05.2018)
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Journal Article
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
Knuiman, G. J., Küsters, B., Eshuis, L., Snoeck, M., Lammens, M., Heytens, L., De Ridder, W., Baets, J., Scalco, R. S., Quinlivan, R., Holton, J., Bodi, I., Wraige, E., Radunovic, A., von Landenberg, C., Reimann, J., Kamsteeg, E.-J., Sewry, C., Jungbluth, H., Voermans, N. C.
Published in Journal of neurology (01.04.2019)
Published in Journal of neurology (01.04.2019)
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Journal Article
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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A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study
de Laat, E C M, Houwen-van Opstal, S L S, Bouman, K, van Doorn, J L M, Cameron, D, van Alfen, N, Dittrich, A T M, Kamsteeg, E J, Smeets, H J M, Groothuis, J T, Erasmus, C E, Voermans, N C, Voermans, Nicol C
Published in BMC neurology (23.10.2024)
Published in BMC neurology (23.10.2024)
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The use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant
Voermans, N.C., Yang, C., Schouten, M., Girard, T., Stowell, K., Riazi, S., Kamsteeg, E.J., Snoeck, M.
Published in Neuromuscular disorders : NMD (01.02.2024)
Published in Neuromuscular disorders : NMD (01.02.2024)
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Journal Article
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers
Kruijt, N., Bersselaar, L. R., Kamsteeg, E. J., Verbeeck, W., Snoeck, M. M. J., Everaerd, D. S., Abdo, W. F., Jansen, D. R. M., Erasmus, C. E., Jungbluth, H., Voermans, N. C.
Published in European journal of neurology (01.02.2021)
Published in European journal of neurology (01.02.2021)
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Journal Article
Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases
Krabbenborg, Lotte, Vissers, L. E. L. M., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, J. A., Willemsen, M. A., Van der Burg, S.
Published in Journal of genetic counseling (01.12.2016)
Published in Journal of genetic counseling (01.12.2016)
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Journal Article
GLUT1 deficiency syndrome into adulthood: a follow-up study
Leen, W. G., Taher, M., Verbeek, M. M., Kamsteeg, E. J., van de Warrenburg, B. P., Willemsen, M. A.
Published in Journal of neurology (01.03.2014)
Published in Journal of neurology (01.03.2014)
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Journal Article
Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study
van Ruitenbeek, E., Custers, J.A.E., Verhaak, C., Snoeck, M., Erasmus, C.E., Kamsteeg, E.J., Schouten, M.I., Coleman, C., Treves, S., Van Engelen, B.G., Jungbluth, H., Voermans, N.C.
Published in Neuromuscular disorders : NMD (01.01.2019)
Published in Neuromuscular disorders : NMD (01.01.2019)
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Journal Article
Autosomal recessive inheritance of GLUT1 deficiency syndrome
Klepper, J, Scheffer, H, Elsaid, M F, Kamsteeg, E-J, Leferink, M, Ben-Omran, T
Published in Neuropediatrics (01.10.2009)
Published in Neuropediatrics (01.10.2009)
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Journal Article
RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia
van den Bersselaar, L.R., Greven, T., Bulger, T., Voermans, N.C., van Petegem, F., Schiemann, A.H., Parker, R., Burling, S.M., Jungbluth, H., Stowell, K.M., Kamsteeg, E.J., Snoeck, M.M.J.
Published in British journal of anaesthesia : BJA (01.08.2021)
Published in British journal of anaesthesia : BJA (01.08.2021)
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Journal Article
HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review
Kruijt, N., van den Bersselaar, L.R., Wijma, J., Verbeeck, W., Coenen, M.J.H., Neville, J, Snoeck, M., Kamsteeg, E.J., Jungbluth, H., Kramers, C., Voermans, N.C.
Published in Neuromuscular disorders : NMD (01.12.2020)
Published in Neuromuscular disorders : NMD (01.12.2020)
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Journal Article
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands
Stunnenberg, B.C., Raaphorst, J., Deenen, J.C.W., Links, T.P., Wilde, A.A., Verbove, D.J., Kamsteeg, E.J., van den Wijngaard, A., Faber, C.G., van der Wilt, G.J., van Engelen, B.G.M., Drost, G., Ginjaar, H.B.
Published in Neuromuscular disorders : NMD (01.05.2018)
Published in Neuromuscular disorders : NMD (01.05.2018)
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Journal Article
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy
Kraeva, N, Heytens, L, Jungbluth, H, Treves, S, Voermans, N, Kamsteeg, E, Ceuterick-de Groote, C, Baets, J, Riazi, S
Published in Neuromuscular disorders : NMD (01.07.2015)
Published in Neuromuscular disorders : NMD (01.07.2015)
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Journal Article
Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene
Van Beusichem, A E, Nicolai, J, Verhoeven, J, Speth, L, Coenen, M, Willemsen, M A, Kamsteeg, E J, Stumpel, C, Vermeulen, R J
Published in Neuropediatrics (01.04.2020)
Published in Neuropediatrics (01.04.2020)
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Journal Article
“Human Stress Syndrome” and the Expanding Spectrum of RYR1-Related Myopathies
Snoeck, M., Treves, S., Molenaar, J. P., Kamsteeg, E. J., Jungbluth, H., Voermans, N. C.
Published in Cell biochemistry and biophysics (01.03.2016)
Published in Cell biochemistry and biophysics (01.03.2016)
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Journal Article
Congenital myasthenic syndrome with positive response to salbutamol treatment
Rasmussen, M, Antal, E.-A, Ørstavik, K, Popperud, T, Kamsteeg, E.-J
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients
Voermans, N C, Laan, A E, Oosterhof, A, van Kuppevelt, T H, Drost, G, Lammens, M, Kamsteeg, E J, Scotton, C, Gualandi, F, Guglielmi, V, van den Heuvel, L, Vattemi, G, van Engelen, B G
Published in Neuromuscular disorders : NMD (01.11.2012)
Published in Neuromuscular disorders : NMD (01.11.2012)
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