Matches in SemOpenAlex for { <https://semopenalex.org/work/W2064178833> ?p ?o ?g. }
- W2064178833 endingPage "59" @default.
- W2064178833 startingPage "49" @default.
- W2064178833 abstract "Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both syndromic and non-syndromic forms of hearing impairment. Their real incidence as a cause of deafness is poorly understood and generally underestimated. Among the known mtDNA mutations, the A1555G mutation in the 12S gene has been identified to be one of the most common genetic cause of deafness, and it has been described to be both associated to non-syndromic progressive SNHL (sensorineural hearing loss) and to aminoglycoside-induced SNHL. In the present study, we have investigated the presence of mtDNA alterations in patients affected by idiopathic non-syndromic SNHL, both familiar and sporadic, in order to evaluate the frequency of mtDNA alterations as a cause of deafness and to describe the audiological manifestations of mitochondrial non-syndromic SNHL. In agreement with previous studies, we found the A1555G mutation to be responsible for a relevant percentage (5.4%) of cases affected with isolated idiopathic sensorineural hearing impairment." @default.
- W2064178833 created "2016-06-24" @default.
- W2064178833 creator A5007907333 @default.
- W2064178833 creator A5010611941 @default.
- W2064178833 creator A5036079877 @default.
- W2064178833 creator A5052915885 @default.
- W2064178833 creator A5053545926 @default.
- W2064178833 creator A5055048928 @default.
- W2064178833 creator A5056579006 @default.
- W2064178833 creator A5065772149 @default.
- W2064178833 date "2008-02-01" @default.
- W2064178833 modified "2023-10-06" @default.
- W2064178833 title "Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature" @default.
- W2064178833 cites W1495866683 @default.
- W2064178833 cites W1573953582 @default.
- W2064178833 cites W1952252335 @default.
- W2064178833 cites W1969051845 @default.
- W2064178833 cites W1972983441 @default.
- W2064178833 cites W1979182088 @default.
- W2064178833 cites W1981133845 @default.
- W2064178833 cites W1981830747 @default.
- W2064178833 cites W1982986141 @default.
- W2064178833 cites W1984300898 @default.
- W2064178833 cites W1984818415 @default.
- W2064178833 cites W1990594013 @default.
- W2064178833 cites W1993696352 @default.
- W2064178833 cites W1994441876 @default.
- W2064178833 cites W1999321816 @default.
- W2064178833 cites W2002789965 @default.
- W2064178833 cites W2005741728 @default.
- W2064178833 cites W2012155342 @default.
- W2064178833 cites W2014889884 @default.
- W2064178833 cites W2021674095 @default.
- W2064178833 cites W2023929520 @default.
- W2064178833 cites W2027372384 @default.
- W2064178833 cites W2034317527 @default.
- W2064178833 cites W2041243503 @default.
- W2064178833 cites W2041843413 @default.
- W2064178833 cites W2042233597 @default.
- W2064178833 cites W2043190075 @default.
- W2064178833 cites W2045023193 @default.
- W2064178833 cites W2055964597 @default.
- W2064178833 cites W2056352402 @default.
- W2064178833 cites W2057013364 @default.
- W2064178833 cites W2059722762 @default.
- W2064178833 cites W2064940551 @default.
- W2064178833 cites W2069765215 @default.
- W2064178833 cites W2071621045 @default.
- W2064178833 cites W2074378102 @default.
- W2064178833 cites W2080728687 @default.
- W2064178833 cites W2082997822 @default.
- W2064178833 cites W2085161299 @default.
- W2064178833 cites W2085785459 @default.
- W2064178833 cites W2087469468 @default.
- W2064178833 cites W2094569431 @default.
- W2064178833 cites W2100704541 @default.
- W2064178833 cites W2109322309 @default.
- W2064178833 cites W2110915209 @default.
- W2064178833 cites W2116816578 @default.
- W2064178833 cites W2121916436 @default.
- W2064178833 cites W2125849136 @default.
- W2064178833 cites W2130477492 @default.
- W2064178833 cites W2131668197 @default.
- W2064178833 cites W2136289912 @default.
- W2064178833 cites W2138264702 @default.
- W2064178833 cites W2140414489 @default.
- W2064178833 cites W2142849543 @default.
- W2064178833 cites W2143819549 @default.
- W2064178833 cites W2153530627 @default.
- W2064178833 cites W2156866014 @default.
- W2064178833 cites W2170267844 @default.
- W2064178833 cites W2322003299 @default.
- W2064178833 cites W2323675203 @default.
- W2064178833 cites W4298037053 @default.
- W2064178833 doi "https://doi.org/10.1042/bsr20070027" @default.
- W2064178833 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18215147" @default.
- W2064178833 hasPublicationYear "2008" @default.
- W2064178833 type Work @default.
- W2064178833 sameAs 2064178833 @default.
- W2064178833 citedByCount "31" @default.
- W2064178833 countsByYear W20641788332012 @default.
- W2064178833 countsByYear W20641788332013 @default.
- W2064178833 countsByYear W20641788332014 @default.
- W2064178833 countsByYear W20641788332015 @default.
- W2064178833 countsByYear W20641788332016 @default.
- W2064178833 countsByYear W20641788332017 @default.
- W2064178833 countsByYear W20641788332018 @default.
- W2064178833 countsByYear W20641788332021 @default.
- W2064178833 crossrefType "journal-article" @default.
- W2064178833 hasAuthorship W2064178833A5007907333 @default.
- W2064178833 hasAuthorship W2064178833A5010611941 @default.
- W2064178833 hasAuthorship W2064178833A5036079877 @default.
- W2064178833 hasAuthorship W2064178833A5052915885 @default.
- W2064178833 hasAuthorship W2064178833A5053545926 @default.
- W2064178833 hasAuthorship W2064178833A5055048928 @default.
- W2064178833 hasAuthorship W2064178833A5056579006 @default.
- W2064178833 hasAuthorship W2064178833A5065772149 @default.
- W2064178833 hasBestOaLocation W20641788332 @default.