User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 6 results.
    • Journal article
    SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
    Bennett, CL Shirk, AJ Huynh, HM Street, VA Nelis, E. Van Maldergem, L. De Jonghe, P. Jordanova, A. Guergueltcheva, V Tournev, I Van den Bergh, Peter[UCL] Seeman, P Mazanec, R Prochazka, T Kremensky, I[UCL] Haberlova, J Weiss, MD Timmerman, V Bird, TD Chance, PF (2004) Annals of Neurology — Vol. 55, no. 5, p. 713-20 (2004)
    • Journal article
    The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
    Irobi, J Van den Bergh, Peter[UCL] Merlini, L Dumoulin, Christine[UCL] Van Maldergem, L. Dierick, I Verpoorten, N Jordanova, A. Windpassinger, C De Vriendt, E Van Gerwen, V Auer-Grumbach, M Wagner, K. Timmerman, V De Jonghe, P. (2004) Brain : a journal of neurology — Vol. 127, no. Pt 9, p. 2124-30 (2004)
    • Journal article
    Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.
    Van Maldergem, L. Moser, A B Vincent, Marie-Françoise[UCL] Roland, D. Reding, Raymond[UCL] Otte, Jean-Bernard Wanders, R J Sokal, Etienne[UCL] (2005) Journal of Inherited Metabolic Disease — Vol. 28, no. 4, p. 593-600 (2005)
    • Journal article
    Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
    Windpassinger, C Van den Bergh, Peter[UCL] Auer-Grumbach, M Irobi, J Patel, H Petek, E Horl, G Malli, R Reed, JA Dierick, I Verpoorten, N Warner, TT Proukakis, C Dumoulin, Christine[UCL] Van Maldergem, L. Merlini, L De Jonghe, P. Timmerman, V Crosby, AH Wagner, K. (2004) Nature Genetics — Vol. 36, no. 3, p. 271-6 (2004)
    • Speech
    Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion
    Wuyts, W. Roland, D. Ludecke, HJ Wauters, J. Foulon, Michel[UCL] Van Hul, W. Van Maldergem, L. (2002) 49th Annual Meeting of the American-Society-of-Human-Genetics — SAN FRANCISCO(California)
    • Speech
    Coenzyme Q- responsive Leigh's encephalopathy in two sisters
    Van Maldergem, L. Trijbels, F DiMauro, S Sindelar, PJ Musumeci, O Janssen, A Delberghe, X Martin, JJ. Gillerot, Y. (2002) 30th Annual Meeting of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism — CAMBRIDGE(England)