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Published in 2024 at "Human Genome Variation"
DOI: 10.1038/s41439-024-00278-9
Abstract: A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion. However, the clinical features…
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Keywords:
patient early;
onset neurological;
neurological disease;
early onset ... See more keywords
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Published in 2024 at "Neuropediatrics"
DOI: 10.1055/s-0044-1787103
Abstract: Abstract Background  Spasticity and dystonia are movement impairments that can occur in childhood-onset neurological disorders. Severely affected individuals can be treated with intrathecal baclofen (ITB). Concomitant use of ITB and opioids has been associated with…
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Keywords:
review;
onset neurological;
concomitant use;
intrathecal baclofen ... See more keywords
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Published in 2024 at "Spine"
DOI: 10.1097/brs.0000000000005201
Abstract: STUDY DESIGN Retrospective single-center comparative analysis. OBJECTIVE To develop a nomogram model for predicting late-onset neurological deficits (LONDs) in patients with kyphosis or kyphoscoliosis. SUMMARY OF BACKGROUND DATA Patients with kyphosis or kyphoscoliosis might suffer…
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Keywords:
kyphoscoliosis;
predicting late;
onset neurological;
late onset ... See more keywords