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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A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder von Prooije, Teije H., Pennings, Maartje, Dorresteijn, Lucille, Gardeitchik, Thatjana, Odekerken, Vincent J.J., Oosterloo, Mayke, Pedersen, Annie, Verschuuren‐Bemelmans, Corien C., Vrancken, Alexander, Kamsteeg, Erik‐Jan, Warrenburg, Bart P.C.

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Axonal CB1 Receptors Mediate Inhibitory Bouton Formation via cAMP Increase and PKA von Liang, Jian, Kruijssen, Dennis L H, Verschuuren, Aniek C J, Voesenek, Bas J B, Benavides, Feline F W, Sáez Gonzalez, Maria, Ruiter, Marvin, Wierenga, Corette J

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Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia von Nibbeling, Esther A R, Duarri, Anna, Verschuuren-Bemelmans, Corien C, Fokkens, Michiel R, Karjalainen, Juha M, Smeets, Cleo J L M, de Boer-Bergsma, Jelkje J, van der Vries, Gerben, Dooijes, Dennis, Bampi, Giovana B, van Diemen, Cleo, Brunt, Ewout, Ippel, Elly, Kremer, Berry, Vlak, Monique, Adir, Noam, Wijmenga, Cisca, van de Warrenburg, Bart P C, Franke, Lude, Sinke, Richard J, Verbeek, Dineke S

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The natural history of progressive myoclonus ataxia von van der Veen, Sterre, Eggink, Hendriekje, Elting, Jan Willem J., Sival, Deborah, Verschuuren-Bemelmans, Corien C., de Koning, Tom J., Tijssen, Marina A.J.

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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome von Donkervoort, Sandra, Mohassel, Payam, Laugwitz, Lucia, Zaki, Maha S., Kamsteeg, Erik‐Jan, Maroofian, Reza, Chao, Katherine R., Verschuuren‐Bemelmans, Corien C., Horber, Veronka, Fock, Annemarie J. M., McCarty, Riley M., Jain, Minal S., Biancavilla, Victoria, McMacken, Grace, Nalls, Matthew, Voermans, Nicol C., Elbendary, Hasnaa M., Snyder, Molly, Cai, Chunyu, Lehky, Tanya J., Stanley, Valentina, Iannaccone, Susan T., Foley, A. Reghan, Lochmüller, Hanns, Gleeson, Joseph, Houlden, Henry, Haack, Tobias B., Horvath, Rita, Bönnemann, Carsten G.

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Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands von Reumers, Stacha F. I., Erasmus, Corrie E., Bouman, Karlijn, Pennings, Maartje, Schouten, Meyke, Kusters, Benno, Duijkers, Floor A. M., Kooi, Anneke, Jaeger, Bregje, Verschuuren‐Bemelmans, Corien C., Faber, Catharina G., Engelen, Baziel G., Kamsteeg, Erik‐Jan, Jungbluth, Heinz, Voermans, Nicol C.

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Genotype―phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort von VAN GASSEN, Koen L. I, VAN DER HEIJDEN, Charlotte D. C. C, VAN DE WARRENBURG, Bart P, DE BOT, Susanne T, DEN DUNNEN, Wilfred F. A, VAN DEN BERG, Leonard H, VERSCHUUREN-BEMELMANS, Corien C, KREMER, H. P. H, VELDINK, Jan H, KAMSTEEG, Erik-Jan, SCHEFFER, Hans

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Dystonia‐deafness syndrome caused by a β‐actin gene mutation and response to deep brain stimulation von Eggink, Hendriekje, van Egmond, Martje E., Verschuuren‐Bemelmans, Corien C., Schönherr, Marleen C., de Koning, Tom J., Oterdoom, D.L. Marinus, Dijk, J. Marc C., Tijssen, Marina A.J.

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Central 22q11.2 deletions von Rump, Patrick, de Leeuw, Nicole, van Essen, Anthonie J., Verschuuren-Bemelmans, Corien C., Veenstra-Knol, Hermine E., Swinkels, Mariëlle E.M., Oostdijk, Wilma, Ruivenkamp, Claudia, Reardon, Willie, de Munnik, Sonja, Ruiter, Mariken, Frumkin, Ayala, Lev, Dorit, Evers, Christina, Sikkema-Raddatz, Birgit, Dijkhuizen, Trijnie, van Ravenswaaij-Arts, Conny M.

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Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers von van Gaalen, J., Maas, R. P. P. W. M., Ippel, E. F., Elting, M. W., van Spaendonck-Zwarts, K. Y., Vermeer, S., Verschuuren-Bemelmans, C., Timmann, D., van de Warrenburg, Bart P.

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Striatal dopamine D2 receptors, metabolism, and volume in preclinical Huntington disease von VAN OOSTROM, J. C. H, MAGUIRE, R. P, VERSCHUUREN-BEMELMANS, C. C, VEENMA-VAN DER DUIN, L, PRUIM, J, ROOS, R. A. C, LEENDERS, K. L

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Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases von Duarri, Anna, Nibbeling, Esther A R, Fokkens, Michiel R, Meijer, Michel, Boerrigter, Melissa, Verschuuren-Bemelmans, Corien C, Kremer, Berry P H, van de Warrenburg, Bart P, Dooijes, Dennis, Boddeke, Erik, Sinke, Richard J, Verbeek, Dineke S

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Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance von Ghorbani, Fatemeh, Alimohamed, Mohamed Z, Vilacha, Juliana F, Van Dijk, Krista K, De Boer-Bergsma, Jelkje, Fokkens, Michiel R, Lemmink, Henny, Sijmons, Rolf H, Sikkema-Raddatz, Birgit, Groves, Matthew R, Verschuuren-Bemelmans, Corien C, Verbeek, Dineke S, Van Diemen, Cleo C, Westers, Helga

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Spinocerebellar ataxias in the Netherlands: Prevalence and age at onset variance analysis von VAN DE WARRENBURG, B. P. C, SINKE, R. J, KNOERS, N. V. A. M, KREMER, H. P. H, VERSCHUUREN-BEMELMANS, C. C, SCHEFFER, H, BRUNT, E. R, IPPEL, P. F, MAAT-KIEVIT, J. A, DOOIJES, D, NOTERMANS, N. C, LINDHOUT, D

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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia von Pennings, Maartje, Schouten, Meyke I, van Gaalen, Judith, Meijer, Rowdy P P, de Bot, Susanne T, Kriek, Marjolein, Saris, Christiaan G J, van den Berg, Leonard H, van Es, Michael A, Zuidgeest, Dick M H, Elting, Mariet W, van de Kamp, Jiddeke M, van Spaendonck-Zwarts, Karin Y, Die-Smulders, Christine de, Brilstra, Eva H, Verschuuren, Corien C, de Vries, Bert B A, Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A, Jaeger, B, Schieving, Jolanda H, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan

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Thrombocytopenia-absent radius syndrome: a clinical genetic study von Greenhalgh, K L, Howell, R T, Bottani, A, Ancliff, P J, Brunner, H G, Verschuuren-Bemelmans, C C, Vernon, E, Brown, K W, Newbury-Ecob, R A

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Paediatric motor phenotypes in early‐onset ataxia, developmental coordination disorder, and central hypotonia von Lawerman, Tjitske F, Brandsma, Rick, Maurits, Natalia M, Martinez‐Manzanera, Octavio, Verschuuren‐Bemelmans, Corien C, Lunsing, Roelineke J, Brouwer, Oebo F, Kremer, Hubertus PH, Sival, Deborah A

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A post hoc study on gene panel analysis for the diagnosis of dystonia von van Egmond, Martje E., Lugtenberg, Coen H.A., Brouwer, Oebele F., Contarino, Maria Fiorella, Fung, Victor S.C., Heiner‐Fokkema, M. Rebecca, van Hilten, Jacobus J., van der Hout, Annemarie H., Peall, Kathryn J., Sinke, Richard J., Roze, Emmanuel, Verschuuren‐Bemelmans, Corien C., Willemsen, Michel A., Wolf, Nicole I., Tijssen, Marina A., de Koning, Tom J.

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Predictive genetic testing in Huntington's disease: should a neurologist be involved? von Oosterloo, Mayke, Bijlsma, Emilia K, Verschuuren-Bemelmans, Corien C, Schouten, Meyke I, de Die-Smulders, Christine, Roos, Raymund A C

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