Browsing by Subject "C9orf72 Protein"

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Generation of a human induced pluripotent stem cell line (INEUi001-A) from an amyotrophic lateral sclerosis/frontotemporal dementia patient with a C9ORF72 G4C2 genotype of <2 (GGGGCCG) and 10 repeats

Nievas, Micaela; Romorini, Leonardo; Isaja, Luciana; Clas, Giulia S.; Rodríguez Varela, María Soledad; Mucci, Sofía; Itzcovich, Tatiana; de Ambrosi, Bruno; Scassa, María Élida; Sevlever, Gustavo Emilio; Surace, Ezequiel Ignacio; Marazita, Mariela Claudia (Elsevier, 2023-03-22)

Human induced pluripotent stem cell (hiPSC) line INEUi001-A was reprogrammed from peripheral blood mononuclear cells (PBMC) using the lentiviral-hSTEMCCA-loxP vector. PBMCs were obtained from a 75- year-old female ALS/FTD ...
Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS

Sokratous, Maria; Schottlaender, Lucía V.; Bourinaris, Thomas; Marogianni, Chrysoula; Arnaoutoglou, Marianthi; Patrikiou, Eleni; Ralli, Styliani; Markou, Aikaterini; Dardiotis, Efthimios; Houlden, Henry; Hadjigeorgiou, Georgios M.; Xiromerisiou, Georgia (Taylor & Francis, 2020-07)

A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was ...

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