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Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1284, doi. 10.1002/humu.23560
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- Article
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxia.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 10, p. 1, doi. 10.1007/s00018-022-04544-3
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- Article
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
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- Cellular & Molecular Life Sciences, 2016, v. 73, n. 10, p. 2089, doi. 10.1007/s00018-015-2084-y
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- Article
VPA response in SMA is suppressed by the fatty acid translocase CD36.
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- Human Molecular Genetics, 2013, v. 22, n. 2, p. 398, doi. 10.1093/hmg/dds437
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- Article
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3645, doi. 10.1093/hmg/ddp313
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- Article
In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy.
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- Journal of Neurochemistry, 2006, v. 98, n. 1, p. 193, doi. 10.1111/j.1471-4159.2006.03868.x
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- Article
Plastin 3 influences bone homeostasis through regulation of osteoclast activity.
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- Human Molecular Genetics, 2018, v. 27, n. 24, p. 4249, doi. 10.1093/hmg/ddy318
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- Article
Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 10, p. 1772, doi. 10.1093/hmg/ddy086
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- Article