RYR1-related myopathies: a wide spectrum of phenotypes throughout life von 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.

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The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations von 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.

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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis von 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

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A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study von 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

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Paroxysmal sensory (spinal) attacks without hyperexplexia in a patient with a variant in the GLRA1 gene von Zwarts, M.J, Willemsen, M.H, Kamsteeg, E.-J, Schelhaas, H.J

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Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study von 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.

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The use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant von Voermans, N.C., Yang, C., Schouten, M., Girard, T., Stowell, K., Riazi, S., Kamsteeg, E.J., Snoeck, M.

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The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers von 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.

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Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes von Menko, FH, Kneepkens, CMF, De Leeuw, N, Peeters, EAJ, Van Maldergem, L, Kamsteeg, EJ, Davidson, R, Rozendaal, L, Lasham, CA, Peeters-Scholte, CMP, Jansweijer, MC, Hilhorst-Hofstee, Y, Gille, JJP, Heins, YM, Nieuwint, AWM, Sistermans, EA

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Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands von 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.

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An E280K Missense Variant in KCND3 /Kv4.3-Case Report and Functional Characterization von Ågren, Richard, Geerdink, Niels, Brunner, Han G, Paucar, Martin, Kamsteeg, Erik-Jan, Sahlholm, Kristoffer

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The Subcellular Localization of an Aquaporin-2 Tetramer Depends on the Stoichiometry of Phosphorylated and Nonphosphorylated Monomers von Kamsteeg, E. J., Heijnen, I., van Os, C. H., Deen, P. M. T.

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Hereditary spastic paraplegia caused by a mutation in the VCP gene von de Bot, Susanne T., Schelhaas, Helenius J., Kamsteeg, Erik-Jan, van de Warrenburg, Bart P.C.

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Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases von Krabbenborg, Lotte, Vissers, L. E. L. M., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, J. A., Willemsen, M. A., Van der Burg, S.

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Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients von 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

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RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia von 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.

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HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review von 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.

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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa von Hamel, Ben C. J., Kamsteeg, E.-J., Kinabo, Grace, Mbwasi, R. M., Ali, A. M., Dekker, Marieke C. J.

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GLUT1 deficiency syndrome into adulthood: a follow-up study von Leen, W. G., Taher, M., Verbeek, M. M., Kamsteeg, E. J., van de Warrenburg, B. P., Willemsen, M. A.

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A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) von Hofstra, Robert M.W, Osinga, Jan, Tan-Sindhunata, Gita, Wu, Ying, Kamsteeg, Erik-J, Stulp, Rein P, Ravenswaaij-Arts, Conny van, Majoor-Krakauer, Daniëlle, Angrist, Misha, Chakravarti, Aravinda, Meijers, Carel, Buys, Charles H.C.M

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