Matches in SemOpenAlex for { <https://semopenalex.org/work/W4256163721> ?p ?o ?g. }
Showing items 1 to 54 of
54
with 100 items per page.
- W4256163721 endingPage "2330" @default.
- W4256163721 startingPage "2326" @default.
- W4256163721 abstract "CHARCOT-MARIE-TOOTH disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are autosomal dominant, inherited primary demyelinating peripheral neuropathies that appear to result from reciprocal DNA duplication/deletion, respectively, of a 1.5-megabase (Mb) pair region on chromosome 17p. While inherited DNA rearrangements are present in most CMT1A and HNPP patients, new mutation duplication or deletion can be responsible for sporadic cases of CMT1A or HNPP. This critical 1.5-Mb region is likely to contain multiple genes, but a dosage effect of one gene that encodes a myelin protein of the peripheral nerve (<i>PMP22</i>) appears to play a critical role in the disease phenotype. Moreover,<i>PMP22</i>point mutations associated with CMT1A have been identified in patients who do not have the<i>CMT1A</i>duplication. The recent elucidation of the molecular mechanisms for CMT1A and HNPP has important clinical implications for the diagnosis, prognosis, genetic counseling, and rational approaches to therapy for" @default.
- W4256163721 created "2022-05-12" @default.
- W4256163721 creator A5000612576 @default.
- W4256163721 date "1993-11-17" @default.
- W4256163721 modified "2023-10-09" @default.
- W4256163721 title "Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP" @default.
- W4256163721 doi "https://doi.org/10.1001/jama.270.19.2326" @default.
- W4256163721 hasPublicationYear "1993" @default.
- W4256163721 type Work @default.
- W4256163721 citedByCount "3" @default.
- W4256163721 crossrefType "journal-article" @default.
- W4256163721 hasAuthorship W4256163721A5000612576 @default.
- W4256163721 hasConcept C104317684 @default.
- W4256163721 hasConcept C127716648 @default.
- W4256163721 hasConcept C142724271 @default.
- W4256163721 hasConcept C176944494 @default.
- W4256163721 hasConcept C2779134260 @default.
- W4256163721 hasConcept C2781006897 @default.
- W4256163721 hasConcept C501734568 @default.
- W4256163721 hasConcept C54355233 @default.
- W4256163721 hasConcept C71924100 @default.
- W4256163721 hasConcept C7602840 @default.
- W4256163721 hasConcept C86803240 @default.
- W4256163721 hasConceptScore W4256163721C104317684 @default.
- W4256163721 hasConceptScore W4256163721C127716648 @default.
- W4256163721 hasConceptScore W4256163721C142724271 @default.
- W4256163721 hasConceptScore W4256163721C176944494 @default.
- W4256163721 hasConceptScore W4256163721C2779134260 @default.
- W4256163721 hasConceptScore W4256163721C2781006897 @default.
- W4256163721 hasConceptScore W4256163721C501734568 @default.
- W4256163721 hasConceptScore W4256163721C54355233 @default.
- W4256163721 hasConceptScore W4256163721C71924100 @default.
- W4256163721 hasConceptScore W4256163721C7602840 @default.
- W4256163721 hasConceptScore W4256163721C86803240 @default.
- W4256163721 hasIssue "19" @default.
- W4256163721 hasLocation W42561637211 @default.
- W4256163721 hasOpenAccess W4256163721 @default.
- W4256163721 hasPrimaryLocation W42561637211 @default.
- W4256163721 hasRelatedWork W1900141280 @default.
- W4256163721 hasRelatedWork W1930360211 @default.
- W4256163721 hasRelatedWork W2015768958 @default.
- W4256163721 hasRelatedWork W2035898116 @default.
- W4256163721 hasRelatedWork W2108754964 @default.
- W4256163721 hasRelatedWork W2149945225 @default.
- W4256163721 hasRelatedWork W2351050139 @default.
- W4256163721 hasRelatedWork W2352924494 @default.
- W4256163721 hasRelatedWork W2398197611 @default.
- W4256163721 hasRelatedWork W155999319 @default.
- W4256163721 hasVolume "270" @default.
- W4256163721 isParatext "false" @default.
- W4256163721 isRetracted "false" @default.
- W4256163721 workType "article" @default.