Search Results - Corien C. Verschuuren‐Bemelmans
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1
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm by Martje E. van Egmond, Anouk Kuiper, Hendriekje Eggink, Richard J. Sinke, Oebele F. Brouwer, Corien C. Verschuuren‐Bemelmans, Deborah A. Sival, Marina A.J. Tijssen, Tom J. de Koning
Published 2014Revisão -
2
Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23 by Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, Cloë Depoorter, Corien C. Verschuuren‐Bemelmans, Igor Bazov, Konstantin A. Artemenko, Tatjana Yakovleva, Dennis Dooijes, Bart P.C. van de Warrenburg, Roman A. Zubarev, B. Kremer, Pamela E. Knapp, Kurt F. Hauser, Cisca Wijmenga, Fred Nyberg, Richard J. Sinke, Dineke S. Verbeek
Published 2010Artigo -
3
Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort by Koen L.I. van Gassen, Charlotte D.C.C. van der Heijden, Susanne T. de Bot, Wilfred F.A. den Dunnen, Leonard H. van den Berg, Corien C. Verschuuren‐Bemelmans, H.P.H. Kremer, Jan H. Veldink, Erik‐Jan Kamsteeg, Hans Scheffer, Bart P. van de Warrenburg
Published 2012Artigo -
4
Central 22q11.2 deletions by Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Veenstra‐Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, William Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema‐Raddatz, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts
Published 2014Artigo -
5
Mutations in potassium channel <i>kcnd3</i> cause spinocerebellar ataxia type 19 by Anna Duarri, Justyna Jezierska, Michiel R. Fokkens, Michel Meijer, Helenius J. Schelhaas, Wilfred F.A. den Dunnen, Freerk van Dijk, Corien C. Verschuuren‐Bemelmans, G. Hageman, Pieter van de Vlies, Benno Küsters, Bart P.C. van de Warrenburg, Berry Kremer, Cisca Wijmenga, Richard J. Sinke, Morris A. Swertz, Harm H. Kampinga, Erik Boddeke, Dineke S. Verbeek
Published 2012Artigo -
6
A post hoc study on gene panel analysis for the diagnosis of dystonia by Martje E. van Egmond, Coen H.A. Lugtenberg, Oebele F. Brouwer, Maria Fiorella Contarino, Victor S.C. Fung, M. Rebecca Heiner‐Fokkema, Jacobus J. van Hilten, Annemarie H. van der Hout, Kathryn J. Peall, Richard J. Sinke, Emmanuel Roze, Corien C. Verschuuren‐Bemelmans, Michèl A.A.P. Willemsen, Nicole I. Wolf, Marina A.J. Tijssen, Tom J. de Koning
Published 2017Artigo -
7
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia by Esther Nibbeling, Anna Duarri, Corien C. Verschuuren‐Bemelmans, Michiel R. Fokkens, Juha Karjalainen, Cleo J. L. M. Smeets, Jelkje J. de Boer-Bergsma, Gerben van der Vries, Dennis Dooijes, Giovana Bampi, Cleo C. van Diemen, E. R. Brunt, Elly F. Ippel, Berry Kremer, Monique H.M. Vlak, Noam Adir, Cisca Wijmenga, Bart P.C. van de Warrenburg, Lude Franke, Richard J. Sinke, Dineke S. Verbeek
Published 2017Artigo -
8
A clinical diagnostic algorithm for early onset cerebellar ataxia by Rick Brandsma, Corien C. Verschuuren‐Bemelmans, Dina Amrom, Nina Barišić, Peter Baxter, Enrico Bertini, Lubov Blumkin, Vesna Branković-Srećković, Oebele F. Brouwer, Katrin Bürk, Coriene E. Catsman‐Berrevoets, Dana Craiu, I.F.M. de Coo, J. Gburek, C Kennedy, Tom J. de Koning, H.P.H. Kremer, Ram Kumar, Alfons Macaya, Alessia Micalizzi, Marisol Mirabelli-Badenier, Andrea H. Németh, Sara Nuovo, Bwee Tien Poll‐The, Tally Lerman‐Sagie, Maja Steinlin, Matthis Synofzik, Marina A.J. Tijssen, Gessica Vasco, Michèl A.A.P. Willemsen, Ginevra Zanni, Enza Maria Valente, Eugen Boltshauser, Deborah A. Sival
Published 2019Revisão
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Biology
Genetics
Gene
Medicine
Ataxia
Spinocerebellar ataxia
Neuroscience
Pathology
Phenotype
Psychiatry
Cerebellar ataxia
Disease
Dystonia
Internal medicine
Mutation
Algorithm
Alternative medicine
Cell biology
Chromosome
Clinical diagnosis
Computer science
Copy-number variation
Deletion mapping
Deletion syndrome
DiGeorge syndrome
Differential diagnosis
Dynorphin
Ectopic expression
Endocrinology
Endoplasmic reticulum