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Archives of Rehabilitation Research and Clinical Translation|June 22, 2026
Exploring Treatment Expectations and Clinical Meaningfulness in Spinal Muscular Atrophy Using the Goal Attainment ScaleJacopo Casiraghi, Andrea Lizio, Maria Beretta, et al.
Early Human Development|September 1, 2014
Longitudinal assessment of perceptual-motor abilities in pre-school preterm childrenClaudia Brogna, Paola De Rose, Serena Sivo, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|December 11, 2020
Respiratory function and therapeutic expectations in DMD: families experience and perspectiveClaudia Brogna, Simona Lucibello, Giorgia Coratti, et al.
Neurobiology of Aging|February 27, 2021
The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairmentPaola Lanteri, Irene Meola, Antonio Canosa, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|November 16, 2018
Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated careValeria A Sansone, Emilio Albamonte, Francesca Salmin, et al.
Journal of Neuromuscular Diseases|March 14, 2026
Impairment of lip and tongue strength in symptomatic SMA1 patients: Results from a 4-center prospective study using the IOPICharlotte Colot, Federica Trucco, Pablo Ruiz Chicaiza, et al.
Neuromuscular Disorders : NMD|September 14, 2023
Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?Bianca Buchignani, Gianpaolo Cicala, Federica Moriconi, et al.
European Journal of Human Genetics : EJHG|March 19, 2026
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patientsSimona Zanotti, Francesca Magri, Sabrina Salani, et al.
Plos One|March 24, 2020
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?Maria Carmela Pera, Giorgia Coratti, Beatrice Berti, et al.
Neurology|July 27, 2018
An observational study of functional abilities in infants, children, and adults with type 1 SMAMarika Pane, Concetta Palermo, Sonia Messina, et al.
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