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Displaying 13 results.
    • Speech
    Coenzyme Q-responsive Leigh encephalopathy in two sisters.
    Maystadt, I. Trijbels, F DiMauro, S Sindelar, PJ Musumeci, O Janssen, A Delberghe, X Martin, JJ. Van Maldergem, L. (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE(Maryland)
    • 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)
    • Speech
    Late-onset distal myopathy with a tibial muscular dystrophy-like phenotype in a Belgium family
    Van den Bergh, Peter[UCL] Bouquiaux, O Dumoulin, Christine[UCL] Martin, JJ. Hackman, P Udd, Bjarne (2002) 10th International Congress on Neuromuscular Diseases — VANCOUVER(Canada)
    • Journal article
    Myoadenylate Deaminase Deficiency - Absence of Correlation With Exercise Intolerance in 452 Muscle Biopsies
    Mercelis, R. Martin, JJ. de Barsy, Thierry[UCL] Van den Berghe, Georges[UCL] (1987) Journal of Neurology : official journal of the European Neurological Society — Vol. 234, no. 6, p. 385-389 (1987)
    • Speech
    Autosomal dominant chronic external ophthalmoplegia (adPEO): a report of three Belgian families
    Van den Bergh, Peter[UCL] Van Parijs, Vinciane[UCL] Martin, JJ. Van Goethem, Gaston[UCL] (2005) 10th International Congress of the World-Muscle-Society — Iguassu Falls (Brazil)
    • Journal article
    Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant
    Ookawara, T Dave, V Willems, P. Martin, JJ. de Barsy, Thierry[UCL] Matthys, E Yoshida, A (1996) Archives of Biochemistry and Biophysics — Vol. 327, no. 1, p. 35-40 (1996)
    • Journal article
    Retrospective study of Creutzfeldt-Jakob disease in Belgium: neuropathological findings
    Van Everbroeck, B Godfraind, Catherine[UCL] Pals, P Dziedzic, T Dom, R. Sciot, Raf[UCL] Brucher, Jean-Marie[UCL] Martin, JJ. Cras, P. (2000) Acta Neuropathologica — Vol. 99, no. 4, p. 358-364 (2000)
    • Journal article
    Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene
    Wuyts, W. Reyniers, E Ceuterick, C. Storm, K. de Barsy, Thierry[UCL] Martin, JJ. (2005) American Journal of Medical Genetics. Part A — Vol. 133A, no. 1, p. 82-4 (2005)
    • Journal article
    Biochemical-diagnosis of An Hereditary Aminolevulinate Dehydratase Deficiency in a 63-year-old Man
    Hassoun, A. Verstraeten, L. Mercelis, R. Martin, JJ. (1989) Journal of Clinical Chemistry and Clinical Biochemistry — Vol. 27, no. 10, p. 781-786 (1989)
    • Journal article
    Leighs Disease - Several Nosological Entities With An Identical Histopathological Complex
    Walter, GF. Brucher, Jean-Marie[UCL] Martin, JJ. Ceuterick, C. Pilz, P. Freund, M. (1986) Neuropathology and Applied Neurobiology — Vol. 12, no. 1, p. 95-107 (1986)
    • Journal article
    Porphyric Neuropathy and Hereditary Delta-aminolevulinic-acid Dehydratase Deficiency in An Adult
    Mercelis, R. Hassoun, A. Verstraeten, L. Debock, R. Martin, JJ. (1990) Journal of the Neurological Sciences — Vol. 95, no. 1, p. 39-47 (1990)
    • Journal article
    Myoadenylate Deaminase Deficiency in a Patient With Facial and Limb Girdle Myopathy
    Mercelis, R. Martin, JJ. Dehaene, I. de Barsy, Thierry[UCL] Van den Berghe, Georges[UCL] (1981) Journal of Neurology : official journal of the European Neurological Society — Vol. 225, no. 3, p. 157-166 (1981)
    • Speech
    Clinical Heterogeneity of Myo-adenylate Deaminase Deficiency
    Mercelis, R. Martin, JJ. de Barsy, Thierry[UCL] (1986) —