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1.
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Am J Hum Genet
; 2024 May 14.
Article
in English
| MEDLINE | ID: mdl-38772379
2.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Hum Mol Genet
; 30(23): 2300-2314, 2021 11 16.
Article
in English
| MEDLINE | ID: mdl-34245260
3.
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Ann Neurol
; 90(5): 738-750, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34564892
4.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 101(5): 716-724, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100085
5.
Shank3 Is Part of a Zinc-Sensitive Signaling System That Regulates Excitatory Synaptic Strength.
J Neurosci
; 36(35): 9124-34, 2016 08 31.
Article
in English
| MEDLINE | ID: mdl-27581454
6.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 102(1): 196, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29304375
7.
Makorin ring zinc finger protein 1 (MKRN1), a novel poly(A)-binding protein-interacting protein, stimulates translation in nerve cells.
J Biol Chem
; 287(2): 1322-34, 2012 Jan 06.
Article
in English
| MEDLINE | ID: mdl-22128154
8.
The RNA-binding protein MARTA2 regulates dendritic targeting of MAP2 mRNAs in rat neurons.
J Neurochem
; 124(5): 670-84, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23121659
9.
Dendritic mRNA targeting of Jacob and N-methyl-d-aspartate-induced nuclear translocation after calpain-mediated proteolysis.
J Biol Chem
; 284(37): 25431-40, 2009 Sep 11.
Article
in English
| MEDLINE | ID: mdl-19608740
10.
Germline AGO2 mutations impair RNA interference and human neurological development.
Nat Commun
; 11(1): 5797, 2020 11 16.
Article
in English
| MEDLINE | ID: mdl-33199684
11.
Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice.
Transl Psychiatry
; 9(1): 7, 2019 01 16.
Article
in English
| MEDLINE | ID: mdl-30664629
12.
Inositol-1,4,5-trisphosphate 3-kinase A regulates dendritic morphology and shapes synaptic Ca2+ transients.
Cell Signal
; 24(3): 750-7, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22120525
13.
Synthesis of two SAPAP3 isoforms from a single mRNA is mediated via alternative translational initiation.
Sci Rep
; 2: 484, 2012.
Article
in English
| MEDLINE | ID: mdl-22761992
14.
Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Ophthalmic Genet
; 30(2): 96-8, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19373681
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