Found: 15
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Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy.
- Published in:
- Drugs, 2018, v. 78, n. 3, p. 293, doi. 10.1007/s40265-018-0868-8
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- Article
Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy.
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- Journal of Anatomy, 2018, v. 232, n. 6, p. 965, doi. 10.1111/joa.12793
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- Publication type:
- Article
Survival of motor neurone protein is required for normal postnatal development of the spleen.
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- Journal of Anatomy, 2017, v. 230, n. 2, p. 337, doi. 10.1111/joa.12546
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- Article
Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA.
- Published in:
- Frontiers in Molecular Neuroscience, 2019, p. N.PAG, doi. 10.3389/fnmol.2019.00059
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- Publication type:
- Article
Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 486, doi. 10.1093/brain/awad329
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- Article
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy.
- Published in:
- 2018
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- Publication type:
- journal article
CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 11, p. 1, doi. 10.15252/emmm.202114095
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- Publication type:
- Article
Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA).
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- Brain Sciences (2076-3425), 2018, v. 8, n. 12, p. 212, doi. 10.3390/brainsci8120212
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- Publication type:
- Article
Disease-associated inosine misincorporation into RNA hinders translation.
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- Nucleic Acids Research, 2022, v. 50, n. 16, p. 9306, doi. 10.1093/nar/gkac709
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- Publication type:
- Article
AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn<sup>2B/−</sup> spinal muscular atrophy mice.
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- Human Molecular Genetics, 2023, v. 32, n. 20, p. 2950, doi. 10.1093/hmg/ddad121
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- Article
Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy.
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- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3515, doi. 10.1093/hmg/ddz195
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- Publication type:
- Article
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy.
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- Human Molecular Genetics, 2018, v. 27, n. 16, p. 2851, doi. 10.1093/hmg/ddy195
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- Publication type:
- Article
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy.
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- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2853, doi. 10.1093/hmg/ddw141
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- Publication type:
- Article
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.
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- PLoS Genetics, 2017, v. 13, n. 4, p. 1, doi. 10.1371/journal.pgen.1006744
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- Publication type:
- Article
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.
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- EMBO Journal, 2018, v. 37, n. 19, p. 1, doi. 10.15252/embj.201899023
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- Publication type:
- Article