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Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. by Francesca Gabanella, Matthew E R Butchbach, Luciano Saieva, Claudia Carissimi, Arthur H M Burghes, Livio Pellizzoni
Published 2007-09-01Get full text
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Nusinersen corrects L-arginine deficiency in the cerebrospinal fluid of patients with severe spinal muscular atrophy by Amber Hassan, Raffaella di Vito, Anna Caretto, Tommaso Nuzzo, Adele D'Amico, Chiara Panicucci, Claudio Bruno, Enrico Bertini, Alessandro Vercelli, Marina Boido, Francesco Errico, Livio Pellizzoni, Alessandro Usiello
Published 2025-10-01Get full text
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Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy by Amber Hassan, Raffaella di Vito, Tommaso Nuzzo, Matteo Vidali, Maria Jose Carlini, Shubhi Yadav, Hua Yang, Adele D'Amico, Xhesika Kolici, Valeria Valsecchi, Chiara Panicucci, Giuseppe Pignataro, Claudio Bruno, Enrico Bertini, Francesco Errico, Livio Pellizzoni, Alessandro Usiello
Published 2025-04-01Get full text
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