1
Ghorbani, Fatemeh, de Boer, Eddy N, Benjamins-Stok, Marloes, Verschuuren-Bemelmans, Corien C, Knapper, Jurjen, de Boer-Bergsma, Jelkje, de Vries, Jeroen J, Sikkema-Raddatz, Birgit, Verbeek, Dineke S, Westers, Helga, van Diemen, Cleo C
Veröffentlicht in: Ghorbani , F , de Boer , E N , Benjamins-Stok , M , Verschuuren-Bemelmans , C C , Knapper , J , de Boer-Bergsma , J , de Vries , J J , Sikkema-Raddatz , B , Verbeek , D S , Westers , H & van Diemen , C C 2023 , ' Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia ' , Neurology: Genetics , vol. 9 , no. 1 , e200050 . https://doi.org/10.1212/NXG.0000000000200050;
2023
Veröffentlicht in: Ghorbani , F , de Boer , E N , Benjamins-Stok , M , Verschuuren-Bemelmans , C C , Knapper , J , de Boer-Bergsma , J , de Vries , J J , Sikkema-Raddatz , B , Verbeek , D S , Westers , H & van Diemen , C C 2023 , ' Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia ' , Neurology: Genetics , vol. 9 , no. 1 , e200050 . https://doi.org/10.1212/NXG.0000000000200050;
2023
2
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.
Veröffentlicht in: PLOS ONE ; volume 10, issue 3, page e0116599 ; ISSN 1932-6203;
2015
Veröffentlicht in: PLOS ONE ; volume 10, issue 3, page e0116599 ; ISSN 1932-6203;
2015
3
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
Veröffentlicht in: European Journal of Human Genetics ; volume 21, issue 11, page 1312-1315 ; ISSN 1018-4813 1476-5438;
2013
Veröffentlicht in: European Journal of Human Genetics ; volume 21, issue 11, page 1312-1315 ; ISSN 1018-4813 1476-5438;
2013
4
5
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.
Veröffentlicht in: Reumers , S F I , Erasmus , C E , Bouman , K , Pennings , M , Schouten , M , Kusters , B , Duijkers , F A M , van der Kooi , A , Jaeger , B , Verschuuren-Bemelmans , C C , Faber , C G , van Engelen , B G , Kamsteeg , E J , Jungbluth , H & Voermans , N C 2021 , ' Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands ' , Clinical Genetics , vol. 100 , no. 6 , pp. 692-702 . https://doi.org/10.1111/cge.14054;
2021
Veröffentlicht in: Reumers , S F I , Erasmus , C E , Bouman , K , Pennings , M , Schouten , M , Kusters , B , Duijkers , F A M , van der Kooi , A , Jaeger , B , Verschuuren-Bemelmans , C C , Faber , C G , van Engelen , B G , Kamsteeg , E J , Jungbluth , H & Voermans , N C 2021 , ' Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands ' , Clinical Genetics , vol. 100 , no. 6 , pp. 692-702 . https://doi.org/10.1111/cge.14054;
2021
6
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.
Veröffentlicht in: Brain ; volume 135, issue 10, page 2994-3004 ; ISSN 1460-2156 0006-8950;
2012
Veröffentlicht in: Brain ; volume 135, issue 10, page 2994-3004 ; ISSN 1460-2156 0006-8950;
2012
7
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
Veröffentlicht in: Ghorbani , F , de Boer-Bergsma , J , Verschuuren-Bemelmans , C C , Pennings , M , de Boer , E N , Kremer , B , Vanhoutte , E K , de Vries , J J , van de Berg , R , Kamsteeg , E-J , van Diemen , C C , Westers , H , van de Warrenburg , B P & Verbeek , D S 2022 , ' Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia ' , Journal of Neurology , vol. 269 , pp. 6086–6093 . https://doi.org/10.1007/s00415-022-11275-9;
2022
Veröffentlicht in: Ghorbani , F , de Boer-Bergsma , J , Verschuuren-Bemelmans , C C , Pennings , M , de Boer , E N , Kremer , B , Vanhoutte , E K , de Vries , J J , van de Berg , R , Kamsteeg , E-J , van Diemen , C C , Westers , H , van de Warrenburg , B P & Verbeek , D S 2022 , ' Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia ' , Journal of Neurology , vol. 269 , pp. 6086–6093 . https://doi.org/10.1007/s00415-022-11275-9;
2022
8
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.
Veröffentlicht in: Quarrell , O W , Clarke , A J , Compton , C , de Die-Smulders , C E M , Fryer , A , Jenkins , S , Lahiri , N , MacLeod , R , Miedzybrodzka , Z , Morrison , P J , Musgrave , H , O'Driscoll , M , Strong , M , van Belzen , M J , Vermeer , S , Verschuuren-Bemelmans , C C & Bijlsma , E K 2018 , ' Predictive testing of minors for Huntington's disease : The UK and Netherlands experiences ' , American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics , vol. 177 , no. 1 , pp. 35-39 . https://doi.org/10.1002/ajmg.b.32582 ; ISSN:1552-4841;
2018
Veröffentlicht in: Quarrell , O W , Clarke , A J , Compton , C , de Die-Smulders , C E M , Fryer , A , Jenkins , S , Lahiri , N , MacLeod , R , Miedzybrodzka , Z , Morrison , P J , Musgrave , H , O'Driscoll , M , Strong , M , van Belzen , M J , Vermeer , S , Verschuuren-Bemelmans , C C & Bijlsma , E K 2018 , ' Predictive testing of minors for Huntington's disease : The UK and Netherlands experiences ' , American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics , vol. 177 , no. 1 , pp. 35-39 . https://doi.org/10.1002/ajmg.b.32582 ; ISSN:1552-4841;
2018