Loading…
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
Kohan, Romina, Pesaola, Favio, Guelbert, Norberto, Pons, Patricia, Oller-Ramírez, Ana María, Rautenberg, Gisela, Becerra, Adriana, Sims, Katherine, Xin, Winnie, Cismondi, Inés Adriana, de Halac, Inés Noher
Published in Biochimica et biophysica acta (01.10.2015)
Published in Biochimica et biophysica acta (01.10.2015)
Get full text
Journal Article
Loading…
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Bott, Laura C, Forouhan, Mitra, Lieto, Maria, Sala, Ambre J, Ellerington, Ruth, Johnson, Janel O, Speciale, Alfina A, Criscuolo, Chiara, Filla, Alessandro, Chitayat, David, Alkhunaizi, Ebba, Shannon, Patrick, Nemeth, Andrea H, Angelucci, Francesco, Lim, Wooi Fang, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Muona, Mikko, Courage, Carolina, Lehesjoki, Anna-Elina, Berkovic, Samuel F, Fischbeck, Kenneth H, Brancati, Francesco, Morimoto, Richard I, Wood, Matthew J A, Rinaldi, Carlo
Published in Brain communications (2021)
Published in Brain communications (2021)
Get full text
Journal Article
Loading…
Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America
Kohan, Romina, Carabelos, María Noelia, Xin, Winnie, Sims, Katherine, Guelbert, Norberto, Cismondi, Inés Adriana, Pons, Patricia, Alonso, Graciela Irene, Troncoso, Mónica, Witting, Scarlet, Pearce, David A., Dodelson de Kremer, Raquel, Oller-Ramírez, Ana María, Noher de Halac, Inés
Published in Gene (01.03.2013)
Published in Gene (01.03.2013)
Get full text
Journal Article