Found: 10

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  • 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

  • Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

    Published in:
    Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
    By:
    • Schobers, Gaby;
    • Schieving, Jolanda H.;
    • Yntema, Helger G.;
    • Pennings, Maartje;
    • Pfundt, Rolph;
    • Derks, Ronny;
    • Hofste, Tom;
    • de Wijs, Ilse;
    • Wieskamp, Nienke;
    • van den Heuvel, Simone;
    • Galbany, Jordi Corominas;
    • Gilissen, Christian;
    • Nelen, Marcel;
    • Brunner, Han G.;
    • Kleefstra, Tjitske;
    • Kamsteeg, Erik-Jan;
    • Willemsen, Michèl A. A. P.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article

  • Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
    By:
    • Schobers, Gaby;
    • Schieving, Jolanda H.;
    • Yntema, Helger G.;
    • Pennings, Maartje;
    • Pfundt, Rolph;
    • Derks, Ronny;
    • Hofste, Tom;
    • de Wijs, Ilse;
    • Wieskamp, Nienke;
    • van den Heuvel, Simone;
    • Galbany, Jordi Corominas;
    • Gilissen, Christian;
    • Nelen, Marcel;
    • Brunner, Han G.;
    • Kleefstra, Tjitske;
    • Kamsteeg, Erik-Jan;
    • Willemsen, Michèl A. A. P.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article

  • Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-LRibitol Pyrophosphorylase A Muscular Dystrophy.

    Published in:
    Clinical Chemistry, 2019, v. 65, n. 10, p. 1295, doi. 10.1373/clinchem.2019.305391
    By:
    • van Tol, Walinka;
    • van Scherpenzeel, Monique;
    • Alsady, Mohammad;
    • Riemersma, Moniek;
    • Hermans, Esther;
    • Kragt, Else;
    • Tasca, Giorgio;
    • Kamsteeg, Erik-Jan;
    • Pennings, Maartje;
    • van Beusekom, Ellen;
    • Vermeulen, Jeroen R.;
    • van Bokhoven, Hans;
    • Voermans, Nicol C.;
    • Willemsen, Michèl A.;
    • Ashikov, Angel;
    • Lefeber, Dirk J.
    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

  • Genetic characterization of primary lateral sclerosis.

    Published in:
    Journal of Neurology, 2023, v. 270, n. 8, p. 3970, doi. 10.1007/s00415-023-11746-7
    By:
    • de Boer, Eva M. J.;
    • de Vries, Balint S.;
    • Pennings, Maartje;
    • Kamsteeg, Erik-Jan;
    • Veldink, Jan H.;
    • van den Berg, Leonard H.;
    • van Es, Michael A.
    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

  • The complexities of CACNA1A in clinical neurogenetics.

    Published in:
    Journal of Neurology, 2022, v. 269, n. 6, p. 3094, doi. 10.1007/s00415-021-10897-9
    By:
    • Hommersom, Marina P.;
    • van Prooije, Teije H.;
    • Pennings, Maartje;
    • Schouten, Meyke I.;
    • van Bokhoven, Hans;
    • Kamsteeg, Erik-Jan;
    • van de Warrenburg, Bart P. C.
    Publication type:
    Article

  • Clinical presentation and long‐term follow‐up of dopamine beta hydroxylase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 554, doi. 10.1002/jimd.12321
    By:
    • Wassenberg, Tessa;
    • Deinum, Jaap;
    • Ittersum, Frans J.;
    • Kamsteeg, Erik‐Jan;
    • Pennings, Maartje;
    • Verbeek, Marcel M.;
    • Wevers, Ron A.;
    • Albada, Mirjam E.;
    • Kema, Ido P.;
    • Versmissen, Jorie;
    • Meiracker, Ton;
    • Lenders, Jacques W.M.;
    • Monnens, Leo;
    • Willemsen, Michèl A.
    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