Found: 21

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  • Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.

    Published in:
    2020
    By:
    • 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;
    • Martinez-Manzanera, Octavio;
    • Verschuuren-Bemelmans, Corien C
    Publication type:
    journal article

  • A post hoc study on gene panel analysis for the diagnosis of dystonia.

    Published in:
    2017
    By:
    • 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.;
    • Heiner-Fokkema, M Rebecca;
    • Verschuuren-Bemelmans, Corien C
    Publication type:
    journal article

  • De novo SPAST mutations may cause a complex SPG4 phenotype.

    Published in:
    2019
    By:
    • Schieving, Jolanda H;
    • Bot, Susanne T de;
    • Pol, Laura A van de;
    • Wolf, Nicole I;
    • Brilstra, Eva H;
    • Frints, Suzanna G;
    • Gaalen, Judith van;
    • Misra-lsrie, Mala;
    • Pennings, Maartje;
    • Verschuuren-Bemelmans, Corien C;
    • Kamsteeg, Erik-Jan;
    • Warrenburg, Bart P van de;
    • Willemsen, Michèl A;
    • de Bot, Susanne T;
    • van de Pol, Laura A;
    • van Gaalen, Judith;
    • van de Warrenburg, Bart P;
    • Misra-Isrie, Mala
    Publication type:
    Letter

  • Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

    Published in:
    2017
    By:
    • 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.;
    • Diemen, Cleo van;
    • Brunt, Ewout;
    • Ippel, Elly;
    • Kremer, Berry;
    • Vlak, Monique;
    • Adir, Noam;
    • Wijmenga, Cisca;
    • van de Warrenburg, Bart P. C.;
    • Franke, Lude;
    • Sinke, Richard J.
    Publication type:
    journal article

  • Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 35, doi. 10.1002/ajmg.b.32582
    By:
    • Quarrell, Oliver W.;
    • Clarke, Angus J.;
    • Compton, Cecilia;
    • de Die‐Smulders, Christine E. M.;
    • Fryer, Alan;
    • Jenkins, Sian;
    • Lahiri, Nayana;
    • MacLeod, Rhona;
    • Miedzybrodzka, Zosia;
    • Morrison, Patrick J.;
    • Musgrave, Hannah;
    • O'Driscoll, Mary;
    • Strong, Mark;
    • van Belzen, Martine J.;
    • Vermeer, Sascha;
    • Verschuuren‐Bemelmans, Corien C.;
    • Bijlsma, Emilia K.
    Publication type:
    Article

  • Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2272, doi. 10.1002/ajmg.a.61765
    By:
    • 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.
    Publication type:
    Article

  • Central 22q11.2 deletions.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36711
    By:
    • 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.
    Publication type:
    Article

  • Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases.

    Published in:
    PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0116599
    By:
    • 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.
    Publication type:
    Article

  • In children with Friedreich ataxia, muscle and ataxia parameters are associated.

    Published in:
    Developmental Medicine & Child Neurology, 2011, v. 53, n. 6, p. 529, doi. 10.1111/j.1469-8749.2011.03931.x
    By:
    • SIVAL, DEBORAH A.;
    • POUWELS, MARIA E.;
    • VAN BREDERODE, AGNES;
    • MAURITS, NATASHA M.;
    • VERSCHUUREN-BEMELMANS, CORIEN C.;
    • BRUNT, EWOUT R.;
    • DU MARCHIE SARVAAS, GIDEON J.;
    • VERBEEK, RENATE J.;
    • BROUWER, OEBELE F.;
    • VAN DER HOEVEN, JOHANNES H.
    Publication type:
    Article

  • Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.

    Published in:
    Human Genetics, 2005, v. 117, n. 1, p. 88, doi. 10.1007/s00439-005-1278-z
    By:
    • Verbeek, Dineke S.;
    • van de Warrenburg, Bart P.C.;
    • Hennekam, F.A.M.;
    • Dooijes, Dennis;
    • Ippel, P. F.;
    • Verschuuren-Bemelmans, Corien C.;
    • Kremer, H. P. H.;
    • Sinke, Richard J.
    Publication type:
    Article

  • Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1312, doi. 10.1038/ejhg.2013.27
    By:
    • de Bot, Susanne T;
    • Burggraaff, Rogier C;
    • Herkert, Johanna C;
    • Schelhaas, Helenius J;
    • Post, Bart;
    • Diekstra, Adinda;
    • van Vliet, Reinout O;
    • van der Knaap, Marjo S;
    • Kamsteeg, Erik-Jan;
    • Scheffer, Hans;
    • van de Warrenburg, Bart P;
    • Verschuuren-Bemelmans, Corien C;
    • Kremer, Hubertus PH
    Publication type:
    Article

  • Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.

    Published in:
    European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1407, doi. 10.1038/ejhg.2008.108
    By:
    • Verschuuren-Bemelmans, Corien C.;
    • Winter, Pia;
    • Sival, Deborah A.;
    • Elting, Jan-Willem;
    • Brouwer, Oebele F.;
    • Müller, Ulrich
    Publication type:
    Article

  • Autosomal Recessive Cerebellar Ataxia Type 3 Due to AN010 Mutations.

    Published in:
    JAMA Neurology, 2014, v. 71, n. 10, p. 1305, doi. 10.1001/jamaneurol.2014.193
    By:
    • Renaud, Mathilde;
    • Anheim, Mathieu;
    • Kamsteeg, Erik-Jan;
    • Mallaret, Martial;
    • Mochel, Fanny;
    • Vermeer, Sascha;
    • Drouot, Nathalie;
    • Pouget, Jean;
    • Redin, Claire;
    • Salort-Campana, Emmanuelle;
    • Kremer, Hubertus P. H.;
    • Verschuuren-Bemelmans, Corien C.;
    • Muller, Jean;
    • Scheffer, Hans;
    • Durr, Alexandra;
    • Tranchant, Christine;
    • Koenig, Michel
    Publication type:
    Article

  • Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 10, p. 2994, doi. 10.1093/brain/aws224
    By:
    • van Gassen, Koen L. I.;
    • van der Heijden, Charlotte D. C. C.;
    • 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;
    • van de Warrenburg, Bart P.
    Publication type:
    Article

  • Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 6, p. 692, doi. 10.1111/cge.14054
    By:
    • Reumers, Stacha F. I.;
    • Erasmus, Corrie E.;
    • Bouman, Karlijn;
    • Pennings, Maartje;
    • Schouten, Meyke;
    • Kusters, Benno;
    • Duijkers, Floor A. M.;
    • van der Kooi, Anneke;
    • Jaeger, Bregje;
    • Verschuuren‐Bemelmans, Corien C.;
    • Faber, Catharina G.;
    • van Engelen, Baziel G.;
    • Kamsteeg, Erik‐Jan;
    • Jungbluth, Heinz;
    • Voermans, Nicol C.
    Publication type:
    Article

  • Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.

    Published in:
    Journal of Neurology, 2022, v. 269, n. 11, p. 6086, doi. 10.1007/s00415-022-11275-9
    By:
    • Ghorbani, Fatemeh;
    • de Boer-Bergsma, Jelkje;
    • Verschuuren-Bemelmans, Corien C.;
    • Pennings, Maartje;
    • de Boer, Eddy N.;
    • Kremer, Berry;
    • Vanhoutte, Els K.;
    • de Vries, Jeroen J.;
    • van de Berg, Raymond;
    • Kamsteeg, Erik-Jan;
    • van Diemen, Cleo C.;
    • Westers, Helga;
    • van de Warrenburg, Bart P.;
    • Verbeek, Dineke S.
    Publication type:
    Article

  • A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.

    Published in:
    Movement Disorders, 2024, v. 39, n. 9, p. 1636, doi. 10.1002/mds.29912
    By:
    • van 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;
    • van de Warrenburg, Bart P.C.
    Publication type:
    Article

  • Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

    Published in:
    Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.782685
    By:
    • 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
    Publication type:
    Article

  • Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 11205, doi. 10.3390/ijms252011205
    By:
    • Ghorbani, Fatemeh;
    • de Boer, Eddy N.;
    • Fokkens, Michiel R.;
    • de Boer-Bergsma, Jelkje;
    • Verschuuren-Bemelmans, Corien C.;
    • Wierenga, Elles;
    • Kasaei, Hamidreza;
    • Noordermeer, Daan;
    • Verbeek, Dineke S.;
    • Westers, Helga;
    • van Diemen, Cleo C.
    Publication type:
    Article

  • Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation.

    Published in:
    2017
    By:
    • 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.
    Publication type:
    journal article

  • Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.

    Published in:
    Movement Disorders, 2014, v. 29, n. 1, p. 139, doi. 10.1002/mds.25704
    By:
    • Egmond, Martje E.;
    • Verschuuren‐Bemelmans, Corien C.;
    • Nibbeling, Esther A.;
    • Elting, Jan Willem J.;
    • Sival, Deborah A.;
    • Brouwer, Oebele F.;
    • Vries, Jeroen J.;
    • Kremer, Hubertus P.;
    • Sinke, Richard J.;
    • Tijssen, Marina A.;
    • Koning, Tom J.
    Publication type:
    Article