Livio Pellizzoni

Columbia University — United States

Medicine · Health Sciences

41h-index7.1kcitations84works2.52yr avg
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Research Topics

Neurogenetic and Muscular Disorders Research(68), RNA modifications and cancer(56), RNA Research and Splicing(47), Muscle Physiology and Disorders(9), RNA and protein synthesis mechanisms(7)

Publications84 total

Nusinersen rescues taurine deficiency in patients with type 1 Spinal Muscular Atrophy
Communications Medicine·2026Open Access
Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy
Brain·2025· 1 citedOpen Access
Identification of p38 MAPK inhibition as a neuroprotective strategy for combinatorial SMA therapy
EMBO Molecular Medicine·2025Open Access
Synaptic imbalance and increased inhibition impair motor function in SMA
Science Advances·2025· 2 citedOpen Access
Nusinersen corrects L-arginine deficiency in the cerebrospinal fluid of patients with severe spinal muscular atrophy
Neurobiology of Disease·2025· 1 citedOpen Access
Nusinersen rescues taurine deficiency in severe Spinal Muscular Atrophy
2025Open Access
Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy
2025Open Access
Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy
2025Open Access
A chemical screen identifies p38 MAPK inhibition as a candidate neuroprotective strategy for combinatorial SMA therapy
2025Open Access
Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy
Neurobiology of Disease·2025· 7 citedOpen Access
Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy
Brain·2025· 8 citedOpen Access
Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy
2024· 2 citedOpen Access
Synaptic imbalance and increased inhibition impair motor function in SMA
2024· 3 citedOpen Access
Dysfunction of proprioceptive sensory synapses is a pathogenic event and therapeutic target in mice and humans with spinal muscular atrophy
2024· 7 citedOpen Access
Stasimon/Tmem41b is required for cell proliferation and adult mouse survival
Biochemical and Biophysical Research Communications·2024· 6 citedOpen Access
Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy
Scientific Reports·2023· 9 citedOpen Access
Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients
Communications Medicine·2023· 29 citedOpen Access
Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy
Biomolecules·2022· 23 citedOpen Access
SMN controls neuromuscular junction integrity through U7 snRNP
Cell Reports·2022· 29 citedOpen Access
TGS1 impacts snRNA 3′-end processing, ameliorates <i>survival motor neuron</i>-dependent neurological phenotypes <i>in vivo</i> and prevents neurodegeneration
Nucleic Acids Research·2022· 11 citedOpen Access
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Frequent Co-authors

Francesco Lotti(13), Gideon Dreyfuss(12), Luciano Saieva(12), George Z. Mentis(8), Meaghan Van Alstyne(8), Sarah Tisdale(7), Darrick K. Li(6), Claudia Carissimi(5), Arthur H.M. Burghes(5), Matthias Mann(5), Juri Rappsilber(5), Jennifer Baccon(5), Christian M. Simon(5), Francesca Gabanella(4), Bernard Charroux(4), Bernard Charroux(3), Jeongsik Yong(3), Charlotte J. Sumner(3), Matthew E.R. Butchbach(3), Robert A. Perkinson(3)