Search Results - "Epifani, Florencia"

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype by Roldán, Mònica, Nolasco, Gregorio Alexander, Armengol, Lluís, Frías, Marcos, Morell, Marta, García-Aragonés, Manel, Epifani, Florencia, Muchart, Jordi, Ramírez-Almaraz, María Luisa, Martorell, Loreto, Hernando-Davalillo, Cristina, Urreizti, Roser, Serrano, Mercedes

“…The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in PPP2R1A have been associated with syndromic…”
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Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study by Epifani, Florencia, Pujol Serra, Susana María, Llorens, Marta, Balcells, Sol, Nolasco, Gregorio, Bolasell, Mercè, Aguilera-Albesa, Sergio, Cancho Candela, Ramon, Cuevas Cervera, José Luis, García Sánchez, Verónica, Garcia, Oscar, Miranda-Herrero, María Concepción, Moreno-Lozano, Pedro J., Robles, Bernabé, Roldán Aparicio, Susana, Velázquez Fragua, Ramón, Serrano, Mercedes

“…Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the…”
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Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel IPPP2R1A/I Variant and Its Unreported Phenotype by Roldán, Mònica, Nolasco, Gregorio Alexander, Armengol, Lluís, Frías, Marcos, Morell, Marta, García-Aragonés, Manel, Epifani, Florencia, Muchart, Jordi, Ramírez-Almaraz, María Luisa, Martorell, Loreto, Hernando-Davalillo, Cristina, Urreizti, Roser, Serrano, Mercedes

“…The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in PPP2R1A have been associated with syndromic…”
Get full text