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Biorxiv : the Preprint Server for Biology|November 1, 2024
Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophyAmber Hassan, Raffaella di Vito, Tommaso Nuzzo, et al.Human Molecular Genetics|June 4, 2013
The DcpS inhibitor RG3039 improves motor function in SMA miceJames P Van Meerbeke, Rebecca M Gibbs, Heather L Plasterer, et al.Nature Structural & Molecular Biology|October 2, 2019
A systems view of spliceosomal assembly and branchpoints with iCLIPMichael Briese, Nejc Haberman, Christopher R Sibley, et al.Nature Structural & Molecular Biology|July 10, 2020
Author Correction: A systems view of spliceosomal assembly and branchpoints with iCLIPMichael Briese, Nejc Haberman, Christopher R Sibley, et al.Research Square|June 30, 2025
Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophyFlorian Gerstner, Sandra Wittig, Christian Menedo, et al.Human Molecular Genetics|March 3, 2016
Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophyXin Zhao, Zhihua Feng, Karen K Y Ling, et al.Brain : a Journal of Neurology|September 18, 2025
Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophyFlorian Gerstner, Sandra Wittig, Christian Menedo, et al.Brain : a Journal of Neurology|February 21, 2025
Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophyChristian M Simon, Nicolas Delestrée, Jacqueline Montes, et al.Nucleic Acids Research|August 10, 2022
TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegenerationLu Chen, Caitlin M Roake, Paolo Maccallini, et al.Pageof 6