Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome

Authors: Vanegas, Maria I., Marcé-Grau, Anna, Martí-Sánchez, Laura, Mellid, Sara, Baide-Mairena, Heidy, Correa-Vela, Marta, Cazurro, Anna, Rodríguez, Carla, Toledo, Laura, Fernández-Ramos, Joaquín Alejandro, Pons, Roser, Aguilera-Albesa, Sergio, Martí, Maria José, Eiris, Jesús, Iglesias, Gema, De Fabregues, Oriol, Maqueda, Elena, Garriz-Luis, Maite, Madruga, Marcos, Espinós, Carmen, Macaya, Alfons, Cabrera, José Carlos, Pérez-Dueñas, Belén

Source: In Parkinsonism and Related Disorders November 2020 80:165-174

Natural history study of spinal muscular atrophy with respiratory distress type 1 (SMARD1) in a cohort of European patients

Authors: Nuredini, Andi, Nizzardo, Monica, Taiana, Michela, Albamonte, Emilio, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Mari, Francesco, Cesaroni, Elisabetta, Porfiri, Liliana, Tiziano, Francesco Danilo, Vita, Gianluca, Sframeli, Maria, Fernández-Ramos, Joaquín Alejandro, Piontek, Magdalena, Ostrowska, Iwona, Comi, Giacomo Pietro, Corti, Stefania, Govoni, Alessandra

Source: In Journal of the Neurological Sciences October 2021 429 Supplement

Atrial standstill, debut of a muscular dystrophy

Alternate Title: Aurícula silente, inicio de una distrofia muscular (Spanish; Castilian)

Authors: Tejero-Hernández, M. Ángeles, Yagüe-Martín, Marta, Gómez-Guzmán, Elena, Fernández Ramos, Joaquín Alejandro, Segura Saint-Gerons, José María

Source: In Anales de Pediatría (English Edition) December 2023 99(6):435-438

Aurícula silente, inicio de una distrofia muscular

Alternate Title: Atrial standstill, debut of a muscular dystrophy (English)

Authors: Tejero-Hernández, M. Ángeles, Yagüe-Martín, Marta, Gómez-Guzmán, Elena, Fernández Ramos, Joaquín Alejandro, Segura Saint-Gerons, José María

Source: In Anales de Pediatria December 2023 99(6):435-438

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