Search details
1.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Article
in English
| MEDLINE | ID: mdl-37713627
2.
Spontaneous alternation: A potential gateway to spatial working memory in Drosophila.
Neurobiol Learn Mem
; 142(Pt B): 230-235, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28559169
3.
Underrepresentation of the term cerebral palsy in clinical genetics databases.
Am J Med Genet A
; 188(12): 3555-3557, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35959765
4.
eIF2α phosphorylation evokes dystonia-like movements with D2-receptor and cholinergic origin and abnormal neuronal connectivity.
bioRxiv
; 2024 May 15.
Article
in English
| MEDLINE | ID: mdl-38798458
5.
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
Ann Clin Transl Neurol
; 11(2): 251-262, 2024 02.
Article
in English
| MEDLINE | ID: mdl-38168508
6.
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder.
bioRxiv
; 2023 Jan 31.
Article
in English
| MEDLINE | ID: mdl-36778426
7.
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders.
Dis Model Mech
; 16(9)2023 09 01.
Article
in English
| MEDLINE | ID: mdl-37470098
8.
Clinical actionability of genetic findings in cerebral palsy.
medRxiv
; 2023 Sep 11.
Article
in English
| MEDLINE | ID: mdl-37745357
9.
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
Orphanet J Rare Dis
; 18(1): 225, 2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37537625
10.
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
JAMA Neurol
; 79(12): 1287-1295, 2022 12 01.
Article
in English
| MEDLINE | ID: mdl-36279113
11.
Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability.
Neurol Genet
; 7(4): e602, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-34345675
12.
Insights From Genetic Studies of Cerebral Palsy.
Front Neurol
; 11: 625428, 2020.
Article
in English
| MEDLINE | ID: mdl-33551980
13.
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Nat Genet
; 52(10): 1046-1056, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32989326
14.
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Nat Genet
; 53(3): 412, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-33432185
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