1. 2007
  2. Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome

    Mathys, R., Deconinck, H., Keymolen, K., Jansen, A. & Van Esch, H., 2007, In : Bull Soc Belge Ophtalmol. 305, p. 49-53 5 p.

    Research output: Contribution to journalArticle

  3. 2006
  4. Epileptic encephalopathy in a boy with an interstitial deletion of Xp22 comprising the CDKL5 gene

    Jansen, A., Bauters, M., De Rademaeker, M., De Meirleir, L., Froyen, G., Fryns, J. P. & Van Esch, H., Dec 2006, In : Epilepsia. 47, s4, p. 367-367 1 p.

    Research output: Contribution to journalMeeting abstract (Journal)

  5. Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

    Jansen, A., Sancak, O., D'agostino, M., Badhwar, A., Roberts, P., Gobbi, G., Wilkinson, R., Melanson, D., Tampieri, D., Koenekoop, R., Gans, M., Maat-Kievit, A., Goedbloed, M., Van Den Ouweland, A., Nellist, M., Pandolfo, M., Mcqueen, M., Sims, K., Thiele, E., Dubeau, F. & 4 others, Andermann, F., Kwiatkowski, D., Halley, D. J. J. & Andermann, E., 1 Nov 2006, In : Annals of Neurology. 60, p. 528-529 2 p.

    Research output: Contribution to journalArticle

  6. Vanishing white matter (VWM) disease as a cause of progressive myoclonus epilepsy

    Jansen, A., Andermann, E., Creveaux, I., Niel, F., Boespflug-Tanguy, O. & Andermann, F., Jul 2006, In : Epilepsia. 47, p. 91-92 2 p.

    Research output: Contribution to journalMeeting abstract (Journal)

  7. CHOREA-ACANTHOCYTOSIS (ChAc) IN FRENCH CANADIANS: FOUNDER EFFECT, SEIZURE CHARACTERISATION AND GENOTYPE-PHENOTYPE CORRELATIONS

    Andermann, F., Jansen, A., Dubeau, F., Chouinard, S., Robert, F., Lang, A., Dobson-Stone, C., Danek, A., Monaco, A., Andermann, E. & Epilepsy, T. I. L. A. (ed.), 2006, In : Epilepsia. 47, p. 85-85 1 p.

    Research output: Contribution to journalMeeting abstract (Journal)

  8. Mild Phenotype in Tuberous Sclerosis Patients with a Codon 905 Missense Mutation in the TSC2 Gene

    Andermann, E., Jansen, A., Sancak, O., D'agostino, M., Badhwar, A., Roberts, P., Wilkinson, R., Melanson, D., Tampieri, D., Maat-Kievit, A., Goedbloed, M., Van Den Ouweland, A. M., Nellist, M., Pandolfo, M., Sims, K., Thiele, E., Dubeau, F., Andermann, F., Kwiatkowski, D. & Halley, D., 2006, In : Epilepsia. 47, s3, p. 85-85 1 p.

    Research output: Contribution to journalMeeting abstract (Journal)

  9. 2005
  10. Periventricular nodular heterotopia with overlying polymicrogyria

    Wieck, G., Leventer, R., Squier, W., Jansen, A., Andermann, E., Dubeau, F., Ramazotti, A., Guerrini, R. & Dobyns, W., 1 Dec 2005, In : Brain. 128, p. 2811-2821 11 p.

    Research output: Contribution to journalArticle

  11. Epilepsy in neuroacanthocytosis

    Andermann, F., Jansen, A., Al-Asmi, A. & Andermann, E., Dec 2005, In : Movement Disorders. 20, p. 1680-1680 1 p.

    Research output: Contribution to journalMeeting abstract (Journal)

  12. French-Canadian chorea-acanthocytosis

    Andermann, E., Jansen, A., Andermann, F., Dubeau, F., Chouinard, S., Robert, F., Lang, A., Danek, A., Velayos-Baeza, A., Dobson-Stone, C. & Monaco, A., Dec 2005, In : Movement Disorders. 20, p. 1678-1678 1 p.

    Research output: Contribution to journalMeeting abstract (Journal)

  13. Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis

    Dobson-Stone, C., Velayos-Baeza, A., Jansen, A., Andermann, F., Dubeau, F., Robert, F., Summers, A., Lang, A., Chouinard, S., Danek, A., Andermann, E. & Monaco, A., 28 Sep 2005, In : Neurogenetics. 6, p. 151-158 8 p.

    Research output: Contribution to journalArticle

ID: 79216