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Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51133
Abstract: Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) is caused by a heterozygous deletion of peripheral myelin proteinā22 (PMP22) gene resulting in focal sensorimotor deficits. Our lab has identified a disruption of myelin junctions in…
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Keywords:
neuropathy liability;
hereditary neuropathy;
liability pressure;
pressure palsies ... See more keywords
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Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09319-8
Abstract: Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent sensory and motor neuropathy in individual nerves starting in adolescence or young adulthood, focal conduction abnormalities at entrapment sites on nerve conduction studies,…
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Keywords:
hereditary neuropathy;
pressure palsies;
liability pressure;
neuropathy liability ... See more keywords
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Published in 2018 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2017.10.049
Abstract: Spinobulbar muscular atrophy (SBMA) is an X-linked recessive disease, presenting motor weakness and wasting of facial, bulbar and limb muscles. Hereditary neuropathy with liability to pressure palsy (HNPP) is autosomal dominant disorder characterized by recurrent…
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Keywords:
neuropathy liability;
hereditary neuropathy;
pressure palsy;
liability pressure ... See more keywords