Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 2 |
2015 | 1 |
2019 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6.
Hum Mutat. 2014.
PMID: 24729539
Free PMC article.
Ser178 is highly conserved across vertebrates and its change is predicted to be damaging. Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic hearing impairment associated with onychodystrophy, os …
Ser178 is highly conserved across vertebrates and its change is predicted to be damaging. Other variants in TBC1D24 have been associa …
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
Aprile D, Fruscione F, Baldassari S, Fadda M, Ferrante D, Falace A, Buhler E, Sartorelli J, Represa A, Baldelli P, Benfenati F, Zara F, Fassio A.
Aprile D, et al.
Cell Death Differ. 2019 Nov;26(11):2464-2478. doi: 10.1038/s41418-019-0313-x. Epub 2019 Mar 11.
Cell Death Differ. 2019.
PMID: 30858606
Free PMC article.
Although pathogenic mutations in TBC1D24 span the entire coding sequence, no clear genotype/phenotype correlations have emerged. However most patients bearing predicted loss of function mutations exhibit a severe neurodevelopmental disorder. ...
Although pathogenic mutations in TBC1D24 span the entire coding sequence, no clear genotype/phenotype correlations have emerged. However mos …
Item in Clipboard
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.
Stražišar BG, Neubauer D, Paro Panjan D, Writzl K.
Stražišar BG, et al.
Eur J Paediatr Neurol. 2015 Mar;19(2):251-6. doi: 10.1016/j.ejpn.2014.12.011. Epub 2014 Dec 20.
Eur J Paediatr Neurol. 2015.
PMID: 25557349
Item in Clipboard
Cite
Cite