FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2039271273> ?p ?o ?g. }

• W2039271273 endingPage "1155" @default.
• W2039271273 startingPage "1149" @default.
• W2039271273 abstract "Abstract Clinical, electrophysiologic and molecular studies were performed on at‐risk members of 14 families with hereditary neuropathy with liability to pressure palsies (HNPP), in order to detect asymptomatic carriers of the 17p11.2 deletion. Sporadic cases due to de novo deletion accounted for 21% of the investigated HNPP families. Approximately one half of deletion carriers were asymptomatic and did not display significant signs on clinical examination. The electrophysiologic hallmark in both symptomatic and asymptomatic deletion carriers was the presence of a nonuniform sensorimotor demyelinating polyneuropathy with conduction abnormalities preferentially located at common entrapment sites and distal nerve segments. A perfect correlation was found between the molecular and electrophysiologic analyses. A reliable screening method to detect clinically unaffected carriers of the deletion in families with HNPP was the evaluation of motor conduction in at least two nerves across usual entrapment sites, especially the ulnar nerve at the elbow, and evaluation of sensory conduction in the sural nerve. In sporadic cases due to a de novo deletion, electrophysiologic studies were suggestive but not sufficient for the diagnosis, and molecular analysis represented the most sensitive diagnostic tool. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 1149–1155, 2001" @default.
• W2039271273 created "2016-06-24" @default.
• W2039271273 creator A5002014224 @default.
• W2039271273 creator A5010257919 @default.
• W2039271273 creator A5028053429 @default.
• W2039271273 creator A5039634756 @default.
• W2039271273 creator A5079598236 @default.
• W2039271273 creator A5085802125 @default.
• W2039271273 creator A5088326479 @default.
• W2039271273 creator A5089487905 @default.
• W2039271273 date "2001-08-02" @default.
• W2039271273 modified "2023-10-18" @default.
• W2039271273 title "Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion" @default.
• W2039271273 cites W1529011174 @default.
• W2039271273 cites W1975066383 @default.
• W2039271273 cites W1979526330 @default.
• W2039271273 cites W1993835011 @default.
• W2039271273 cites W2001288293 @default.
• W2039271273 cites W2004391851 @default.
• W2039271273 cites W2008342751 @default.
• W2039271273 cites W2009843886 @default.
• W2039271273 cites W2021131636 @default.
• W2039271273 cites W2026874406 @default.
• W2039271273 cites W2028122645 @default.
• W2039271273 cites W2042483006 @default.
• W2039271273 cites W2053484889 @default.
• W2039271273 cites W2055022191 @default.
• W2039271273 cites W2058674496 @default.
• W2039271273 cites W2059889103 @default.
• W2039271273 cites W2062916331 @default.
• W2039271273 cites W2084228349 @default.
• W2039271273 cites W2103246831 @default.
• W2039271273 cites W2104134778 @default.
• W2039271273 cites W2114225491 @default.
• W2039271273 cites W2124610950 @default.
• W2039271273 cites W2131941440 @default.
• W2039271273 cites W2137277483 @default.
• W2039271273 cites W2140036896 @default.
• W2039271273 cites W2151026099 @default.
• W2039271273 cites W2166600108 @default.
• W2039271273 doi "https://doi.org/10.1002/mus.1126" @default.
• W2039271273 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11494267" @default.
• W2039271273 hasPublicationYear "2001" @default.
• W2039271273 type Work @default.
• W2039271273 sameAs 2039271273 @default.
• W2039271273 citedByCount "53" @default.
• W2039271273 countsByYear W20392712732012 @default.
• W2039271273 countsByYear W20392712732013 @default.
• W2039271273 countsByYear W20392712732014 @default.
• W2039271273 countsByYear W20392712732015 @default.
• W2039271273 countsByYear W20392712732016 @default.
• W2039271273 countsByYear W20392712732017 @default.
• W2039271273 countsByYear W20392712732018 @default.
• W2039271273 countsByYear W20392712732020 @default.
• W2039271273 countsByYear W20392712732021 @default.
• W2039271273 countsByYear W20392712732022 @default.
• W2039271273 countsByYear W20392712732023 @default.
• W2039271273 crossrefType "journal-article" @default.
• W2039271273 hasAuthorship W2039271273A5002014224 @default.
• W2039271273 hasAuthorship W2039271273A5010257919 @default.
• W2039271273 hasAuthorship W2039271273A5028053429 @default.
• W2039271273 hasAuthorship W2039271273A5039634756 @default.
• W2039271273 hasAuthorship W2039271273A5079598236 @default.
• W2039271273 hasAuthorship W2039271273A5085802125 @default.
• W2039271273 hasAuthorship W2039271273A5088326479 @default.
• W2039271273 hasAuthorship W2039271273A5089487905 @default.
• W2039271273 hasConcept C105702510 @default.
• W2039271273 hasConcept C126322002 @default.
• W2039271273 hasConcept C134018914 @default.
• W2039271273 hasConcept C137916694 @default.
• W2039271273 hasConcept C141071460 @default.
• W2039271273 hasConcept C142724271 @default.
• W2039271273 hasConcept C179253579 @default.
• W2039271273 hasConcept C2775892965 @default.
• W2039271273 hasConcept C2775912687 @default.
• W2039271273 hasConcept C2777910003 @default.
• W2039271273 hasConcept C2779658331 @default.
• W2039271273 hasConcept C2779746960 @default.
• W2039271273 hasConcept C2779901536 @default.
• W2039271273 hasConcept C2780283014 @default.
• W2039271273 hasConcept C2780923182 @default.
• W2039271273 hasConcept C2910388401 @default.
• W2039271273 hasConcept C2910881488 @default.
• W2039271273 hasConcept C2994188736 @default.
• W2039271273 hasConcept C555293320 @default.
• W2039271273 hasConcept C71924100 @default.
• W2039271273 hasConceptScore W2039271273C105702510 @default.
• W2039271273 hasConceptScore W2039271273C126322002 @default.
• W2039271273 hasConceptScore W2039271273C134018914 @default.
• W2039271273 hasConceptScore W2039271273C137916694 @default.
• W2039271273 hasConceptScore W2039271273C141071460 @default.
• W2039271273 hasConceptScore W2039271273C142724271 @default.
• W2039271273 hasConceptScore W2039271273C179253579 @default.
• W2039271273 hasConceptScore W2039271273C2775892965 @default.
• W2039271273 hasConceptScore W2039271273C2775912687 @default.
• W2039271273 hasConceptScore W2039271273C2777910003 @default.
• W2039271273 hasConceptScore W2039271273C2779658331 @default.
• W2039271273 hasConceptScore W2039271273C2779746960 @default.

• next