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PAPER Santos García D, Jesús S, Aguilar M, Planellas LL, García Caldentey J, Caballol N, Legarda I, Hernández Vara J, Cabo I, López Manzanares L, González Aramburu I, Ávila Rivera MA, Catalán MJ, López Díaz L, Puente V, García Moreno JM, Borrué C, Solano Vila B, Álvarez Sauco M, Vela L, Escalante S, Cubo E, Carrillo Padilla F, Martínez Castrillo JC, Sánchez Alonso P, Alonso Losada MG, López Ariztegui N, Gastón I, Kulisevsky J, Menéndez González M, Seijo M, Rúiz Martínez J, Valero C, Kurtis M, de Fábregues-Boixar O, González Ardura J, Prieto Jurczynska C, Martinez-Martin P, Mir P, COPPADIS Study Group

COPPADIS-2015 (COhort of Patients with PArkinson's DIsease in Spain, 2015): an ongoing global Parkinson's disease project about disease progression with more than 1000 subjects included. Results from the baseline evaluation.

Eur J Neurol. 2019 Nov;26(11):1399-1407. Epub 2019 Jul 4 PubMed: 31179586

PSEN1 T119I

MUTATIONS 73640291 GRCh37 (105) C T PSEN1 Exon 5 Point, Missense Coding Unknown, but most in silico analyses predict it to be damaging, as do structural data. CADD-PHRED score = 24. Unknown, but in 3 cases, PiB-PET revealed amyloid in frontal, parietal, and ...

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