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Muscle & Nerve|July 20, 2018
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasiaMiguel M Pinto, Soledad Monges, Edoardo Malfatti, et al.Neuromuscular Disorders : NMD|January 4, 2011
Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophyJuan Parra, Rebeca Martínez-Hernández, Eva Also-Rallo, et al.The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|November 16, 2011
Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy numberJuan Parra, Laura Alias, Eva Also-Rallo, et al.Journal of Neuromuscular Diseases|April 11, 2023
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with NusinersenSelena Trifunov, Daniel Natera-de Benito, Laura Carrera-García, et al.International Journal of Molecular Sciences|August 12, 2022
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado, et al.Pageof 2