Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders von van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl Aap, Scheffer, Hans, Kamsteeg, Erik-Jan

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The complexities of CACNA1A in clinical neurogenetics von Hommersom, Marina P., van Prooije, Teije H., Pennings, Maartje, Schouten, Meyke I., van Bokhoven, Hans, Kamsteeg, Erik-Jan, van de Warrenburg, Bart P. C.

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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, de Die-Smulders, Christine, Roos, Raymund A. C.

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Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset von Wassenberg, Tessa, Schouten, Meyke I., Helmich, Rick C., Willemsen, Michèl A.A.P., Kamsteeg, Erik-Jan, van de Warrenburg, Bart P.C.

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A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene von Mul, Karlien, Schouten, Meyke I., van der Looij, Erica, Dooijes, Dennis, Hennekam, Frederic A.M., Notermans, Nicolette C., Praamstra, Peter, van Gaalen, Judith, Kamsteeg, Erik-Jan, Verbeek, Nienke E., van de Warrenburg, Bart P.C.

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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders von van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl Aap, Scheffer, Hans, Kamsteeg, Erik-Jan

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Genetic Cancer Susceptibility in Adolescents and Adults 25 Years or Younger With Colorectal Cancer von Jongmans, Marjolijn C.J., Zhang, Junxiao, Mensenkamp, Arjen R., van Kessel, Ad Geurts, Spruijt, Liesbeth, Kets, C. Marleen, van Zelst-Stam, Wendy A.G., Schouten, Meyke I., Wevers, Marijke R., Olderode-Berends, Maran J.W., Oosterwijk, Jan C., Hitzert, Marrit M., Letteboer, Tom G.W., Stanković, Snežana, Kamping, Eveline J., Yuniati, Laurensia, van Leeuwen, Frank N., Weitz, Jürgen, van der Post, Rachel S., Teixeira, Manuel R., Liu, Huanliang, Wang, Jianping, Kuiper, Roland P., Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., De Voer, Richarda M.

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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia von Pennings, Maartje, Schouten, Meyke, 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., de Die-Smulders, Christine, 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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A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene von Mul, Karlien, Schouten, Meyke I, van der Looij, Erica, Dooijes, Dennis, Hennekam, Frederic A M, Notermans, Nicolette C, Praamstra, Peter, van Gaalen, Judith, Kamsteeg, Erik-Jan, Verbeek, Nienke E, van de Warrenburg, Bart P C

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Erratum: Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders von van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl AAP, Scheffer, Hans, Kamsteeg, Erik-Jan

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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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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service von Westra, Dineke, Schouten, Meyke I., Stunnenberg, Bas C., Kusters, Benno, Saris, Christiaan G.J., Erasmus, Corrie E., van Engelen, Baziel G., Bulk, Saskia, Verschuuren-Bemelmans, Corien C., Gerkes, E.H., de Geus, Christa, van der Zwaag, P.A., Chan, Sophelia, Chung, Brian, Barge-Schaapveld, Daniela Q.C.M., Kriek, Marjolein, Sznajer, Yves, van Spaendonck-Zwarts, Karin, van der Kooi, Anneke J., Krause, Amanda, Schönewolf-Greulich, Bitten, de Die-Smulders, Christine, Sallevelt, Suzanne C.E.H., Krapels, Ingrid P.C., Rasmussen, Magnhild, Maystadt, Isabelle, Kievit, Anneke J.A., Witting, Nanna, Pennings, Maartje, Meijer, Rowdy, Gillissen, Christian, Kamsteeg, Erik-Jan, Voermans, Nicol C.

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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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Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield von van der Sanden, Bart P.G.H., Corominas, Jordi, de Groot, Michelle, Pennings, Maartje, Meijer, Rowdy P.P., Verbeek, Nienke, van de Warrenburg, Bart, Schouten, Meyke, Yntema, Helger G., Vissers, Lisenka E. L.M., Kamsteeg, Erik-Jan, Gilissen, Christian

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The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene von Maas, Roderick P.P.W.M., MD, Schieving, Jolanda H., MD, Schouten, Meyke, MD, Kamsteeg, Erik-Jan, PhD, van de Warrenburg, Bart P.C., MD, PhD

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PREPL deficiency: delineation of the phenotype and development of a functional blood assay von Régal, Luc, Mårtensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Juan Fita, María Jesús, Hoogeboom, A. Jeannette M., Olsson Engman, Mia, Hollemans, Tess, Schouten, Meyke, Meulemans, Sandra, Jonson, Tord, François, Inge, Gil Ortega, David, Kamsteeg, Erik-Jan, Creemers, John W.M.

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Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice von Bugiardini, Enrico, Nunes, Andreia M, Oliveira-Santos, Ariany, Dagda, Marisela, Fontelonga, Tatiana M, Barraza-Flores, Pamela, Pittman, Alan M, Morrow, Jasper M, Parton, Matthew, Houlden, Henry, Elliott, Perry M, Syrris, Petros, Maas, Roderick P, Akhtar, Mohammed M, Küsters, Benno, Raaphorst, Joost, Schouten, Meyke, Kamsteeg, Erik-Jan, van Engelen, Baziel, Hanna, Michael G, Phadke, Rahul, Lopes, Luis R, Matthews, Emma, Burkin, Dean J

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Orthognathic surgery in RYR1-related congenital myopathy: a patient report von van der Kooi, Anneke J, de Lange, Jan, Schouten, Meyke, Snoeck, Marc M J, Hofstra, Wytske A, Voermans, Nicol C

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Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes von Udenhout, Fleur, Merkus, Peter, Verhaagen‐van den Akker, Sandra, Schouten, Meyke, Erasmus, Corrie, Braakman, Hilde

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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies von Pennings, Maartje, Meijer, Rowdy P P, Gerrits, Monique, Janssen, Jannie, Pfundt, Rolph, de Leeuw, Nicole, Gilissen, Christian, Gardeitchik, Thatjana, Schouten, Meyke, Voermans, Nicol, van de Warrenburg, Bart, Kamsteeg, Erik-Jan

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