Persones / Equip Humà

Jordi Genovès Escarré

Buscador de publicacions

Publicacions

  • Paredes-Fuentes AJ, César-Díaz S, Montero-Sanchez R, Latre C, Genovés-Escarré J, Martorell-Sampol L, Cuadras-Palleja D, Colom H, Pineda M, O'Callaghan-Gordo M, Sarquella-Brugada G, Darling A and Artuch-Iriberri R.

    Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up

    BIOMEDICINE & PHARMACOTHERAPY . 143: 112143-112143. Nº de cites: 8

    [doi:10.1016/j.biopha.2021.112143]

  • Martorell-Sampol L, Tondo M, García-Fructuoso G, Naudo-Lahoz M, Alegre C, Gamez J, Genovés-Escarré J and Poo P.

    Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia

    CLINICAL RHEUMATOLOGY . 31(11): 1611-1615. Nº de cites: 7

    [doi:10.1007/s10067-012-2052-y]

  • Tondo M, Poo P, Naudo-Lahoz M, Ferrando T, Genovés-Escarré J, Molero M and Martorell-Sampol L.

    Predisposition to epilepsy in fragile X syndrome: Does the Va166Met polymorphism in the BDNF gene play a role?

    EPILEPSY & BEHAVIOR . 22(3): 581-583. Nº de cites: 11

    [doi:10.1016/j.yebeh.2011.08.003]

  • Martorell-Sampol L, Nascimento MT, Colomé-Roura R, Genovés-Escarré J, Naudo-Lahoz M and Nascimento-Osorio A.

    Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling

    JOURNAL OF HUMAN GENETICS . 56(1): 87-90. Nº de cites: 4

    [doi:10.1038/jhg.2010.140]