Created at 12:13 a.m. Mar, 04, 2025
Author:
mayomo28
Co-authors:
mitchelnelson
Type of change:
Spelling/Grammar
Rationale for change
consistency (arm is consistently included for questions which require the arm as well)
nid:1482886892911
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- SMN1 encodes a protein ("Survival of Motor Neuron") involved in the assembly of snRNPs which are utilized in the spliceosome
- Patients who survive with SMN1 mutations do so because the SMN2 gene produces the same product as SMN1 but at lower levels
- Novel gene therapies have been approved to treat SMA type 1, doing so either via replacing the SMN1 gene (ZolgenSMA) or by increasing SMN2 conversion to SMN1 via alternative splicing (nusinersen/Spinraza)
Lecture Notes
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Missed Questions
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Pathoma
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Boards and Beyond
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First Aid




Sketchy 2
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Sketchy Extra
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Picmonic
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Physeo
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OME
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