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Abbreviation : HNPP
Long Form : hereditary neuropathy with pressure palsies
No. Year Title Co-occurring Abbreviation
2021 Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China. CMT, dHMN, HSAN
2019 PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability. CMT
2018 A dual role for Integrin alpha6beta4 in modulating hereditary neuropathy with liability to pressure palsies. CMT1A, PMP22
2015 Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies? AMNS, CIDP, CMT1a, CV, dCMAP, NCS
2013 Axonal excitability in X-linked dominant Charcot Marie Tooth disease. ---
2007 CNS involvement in hereditary neuropathy with pressure palsies (HNPP). ---
2006 CNS involvement in hereditary neuropathy with pressure palsies (HNPP). ---
2003 Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies. CMT, PMP22
1999 Effects of PMP22 duplication and deletions on the axonal cytoskeleton. CMT1A