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  • Pérez-Dueñas B, Toma C, Ormazabal-Herrero A, Muchart-Lopez J, Sanmartí F, Bombau G, Serrano M, Garcia-Cazorla A, Cormand B and Artuch-Iriberri R.

    Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 795-802. Number of citations: 49

    [doi:10.1007/s10545-010-9196-1]

  • Busquets M, Gonzalez-Bosquet E, Muchart-Lopez J, Rovira-Zurriaga C and Lailla Vicens JM.

    Granulosa cell tumor and endometrial cancer: a case report and review of the literature

    EUROPEAN JOURNAL OF GYNAECOLOGICAL ONCOLOGY . 31(5): 575-578. Number of citations: 4

  • Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.

    Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78005]