Browsing by Author "1b9b370d-4dfa-4767-88dd-ca5b16c62b12"

Now showing items 1-3 of 3

    • Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing ... 
      Tenorio, Jair; Alarcón Arias, Pablo; Arias, Pedro; Dapia, Irene; Garcia Minaur, Sixto; Bralo, María Palomares; Campistol, Jaume; Climent, Salvador; Valenzuela, Irene; Ramos, Sergio; Monseny, Antonio; Grondona, Fermina; Botet, Javier; Serrano, Mercedes; Solis, Mario; Santos Simarro, Fernando; Alvarez, Sara; Teixido Tura, Gisela; Jaen, Alberto; Gordo, Gema; Rivera, María Belén; Nevado, Julián; Hernández, Alicia; Cigudosa, Juan C.; Ruiz Pérez, Víctor; Tizzano, Eduardo; Lapunzina, Pablo (Nature, 2020)
      Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic ...
    • Inclusion of the Symbol Digit Modalities Test in a revised assessment of 'no evidence of disease activity-4 ... 
      Guevara Oliva, Carlos; Villa, Eduardo; Díaz Tapia, Violeta; Garrido Inostroza, Cristian; Martínez, Melissa; Orellana, Patricia; Alarcón Arias, Pablo; Silva Rosas, Carlos; Barker, Gareth J.; Kempton, Matthew J.; Grazia, José de (Elsevier, 2020)
      Background: : In relapsing -remitting multiple sclerosis (RRMS), no evidence of disease activity -3 (NEDA-3) is defined as the absence of: (1) relapses; (2) disability progression; (3) MRI activity (new/enlarged T2 lesions ...
    • NotCH 1 mutation in a patient with spontaneous and recurrent dissections of extracranial arteries 
      Guevara Oliva, Carlos; Farías Gontupil, Gonzalo; Bulatova, Kateryna; Alarcón Arias, Pablo; Soruco Pastrana, Wendy; Robles Morales, Carlos; Morales, Marcelo (Frontiers, 2017-06-09)
      Dissections of extracranial arteries are estimated to account for only 2% of all ischemic strokes but for approximately 20% of strokes in patients younger than 45 years old. Most dissections of extracranial arteries involve ...