Nusinersen corrects L-arginine deficiency in the cerebrospinal fluid of patients with severe spinal muscular atrophy

Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder caused by homozygous loss of the survival motor neuron 1 (SMN1) gene, leading to reduced SMN protein expression. Increasing evidence implicates neurotransmission deficits in the pathophysiology of SMA. In particular, alterations i...

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Bibliografische gegevens

Hoofdauteurs:	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
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	Elsevier 2025-10-01
Reeks:	Neurobiology of Disease
Onderwerpen:	Spinal muscular atrophy Cereberal spinal fluid Nusinersen L-arginine SMNΔ7 mice
Online toegang:	http://www.sciencedirect.com/science/article/pii/S0969996125002621
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