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.

Volltext

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.

Volltext

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

Volltext

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

Volltext

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

Volltext

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.

Volltext

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.

Volltext

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.

Volltext

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.

Volltext

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

Volltext

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.

Volltext

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.

Volltext

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.

Volltext

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.

Volltext

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy von Kraeva, N, Heytens, L, Jungbluth, H, Treves, S, Voermans, N, Kamsteeg, E, Ceuterick-de Groote, C, Baets, J, Riazi, S

Volltext

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.

Volltext

Congenital myopathy caused by a novel missense mutation in the CFL2 gene von Ockeloen, C.W, Gilhuis, H.J, Pfundt, R, Kamsteeg, E.J, Agrawal, P.B, Beggs, A.H, Dara Hama-Amin, A, Diekstra, A, Knoers, N.V.A.M, Lammens, M, van Alfen, N

Volltext

An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus von Kamsteeg, Erik-Jan, Wormhoudt, Thera A.M., Rijss, Johan P.L., van Os, Carel H., Deen, Peter M.T.

Volltext

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.

Volltext

“Human Stress Syndrome” and the Expanding Spectrum of RYR1-Related Myopathies von Snoeck, M., Treves, S., Molenaar, J. P., Kamsteeg, E. J., Jungbluth, H., Voermans, N. C.

Volltext