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1.
COVID-19 and tinnitus: an initiative to improve tinnitus care.
Int J Audiol
; 62(9): 826-834, 2023 09.
Article
in English
| MEDLINE | ID: mdl-35916637
2.
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.
Hum Mol Genet
; 29(15): 2568-2578, 2020 08 29.
Article
in English
| MEDLINE | ID: mdl-32667670
3.
Associations between intake of dietary flavonoids and the 10-year incidence of tinnitus in older adults.
Eur J Nutr
; 61(4): 1957-1964, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-35067755
4.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Article
in English
| MEDLINE | ID: mdl-29656860
5.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Am J Hum Genet
; 98(2): 373-81, 2016 Feb 04.
Article
in English
| MEDLINE | ID: mdl-26833328
6.
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Hum Mol Genet
; 24(12): 3335-47, 2015 Jun 15.
Article
in English
| MEDLINE | ID: mdl-25740848
7.
Resting-state Networks in Tinnitus : A Scoping Review.
Clin Neuroradiol
; 32(4): 903-922, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-35556148
8.
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ß Signaling.
Biol Psychiatry
; 87(2): 100-112, 2020 01 15.
Article
in English
| MEDLINE | ID: mdl-31443933
9.
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.
Neuron
; 104(4): 665-679.e8, 2019 11 20.
Article
in English
| MEDLINE | ID: mdl-31585809
10.
USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors.
Sci Rep
; 7(1): 391, 2017 03 24.
Article
in English
| MEDLINE | ID: mdl-28341829
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