Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"IGHMBP2"”.
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OPTIMIZATION OF AAV9 GENE THERAPY FOR SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 USING IN VIVO DISEASE MODELS
… in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene, which lead to a deficient amount of the encoded protein. The main clinical symptoms are distal muscular atrophy associated with diaphragmatic palsy. Nowadays no therapies are approved. In this work, we compared the efficiency of two …
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Expression of genetic peripheral neuropathies in South African Children
… consisted of seven CMT1A (PMP22 dup), two IGHMBP2, one MFN2, one SLC12A6 and one SLC52A3. Most children had axonal type of neuropathy (79.4 %): affecting African 11/12, Mixed 17/26, European 21/24 ancestries. Axonal neuropathy is the most common genetic neuropathy manifesting in children of …