Search details
1.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Article
in English
| MEDLINE | ID: mdl-32707086
2.
Leveraging Knowledge Graphs and Natural Language Processing for Automated Web Resource Labeling and Knowledge Mobilization in Neurodevelopmental Disorders: Development and Usability Study.
J Med Internet Res
; 25: e45268, 2023 04 17.
Article
in English
| MEDLINE | ID: mdl-37067865
3.
Deciphering the Diversity of Mental Models in Neurodevelopmental Disorders: Knowledge Graph Representation of Public Data Using Natural Language Processing.
J Med Internet Res
; 24(8): e39888, 2022 08 05.
Article
in English
| MEDLINE | ID: mdl-35930346
4.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33029936
5.
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Am J Hum Genet
; 98(5): 1038-1046, 2016 May 05.
Article
in English
| MEDLINE | ID: mdl-27153400
6.
Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms.
Hum Mol Genet
; 25(6): 1088-99, 2016 Mar 15.
Article
in English
| MEDLINE | ID: mdl-26744324
7.
G-Quadruplexes influence pri-microRNA processing.
RNA Biol
; 15(2): 198-206, 2018 02 01.
Article
in English
| MEDLINE | ID: mdl-29171334
8.
Irregular G-quadruplexes Found in the Untranslated Regions of Human mRNAs Influence Translation.
J Biol Chem
; 291(41): 21751-21760, 2016 Oct 07.
Article
in English
| MEDLINE | ID: mdl-27557661
9.
Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly.
Am J Med Genet A
; 173(4): 972-977, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28328126
10.
PDE-4 inhibition rescues aberrant synaptic plasticity in Drosophila and mouse models of fragile X syndrome.
J Neurosci
; 35(1): 396-408, 2015 Jan 07.
Article
in English
| MEDLINE | ID: mdl-25568131
11.
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Am J Hum Genet
; 98(6): 1271, 2016 06 02.
Article
in English
| MEDLINE | ID: mdl-27259058
12.
Analyzing the Quality of Life in Individuals with Fragile X Syndrome in Relation to Sleep and Mental Health.
J Autism Dev Disord
; 2024 Apr 23.
Article
in English
| MEDLINE | ID: mdl-38653851
13.
Development of a highly optimized procedure for the discovery of RNA G-quadruplexes by combining several strategies.
Biochimie
; 214(Pt A): 24-32, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37479077
14.
Long-term Memory Testing in Children With Typical Development and Neurodevelopmental Disorders: Remote Web-based Image Task Feasibility Study.
JMIR Pediatr Parent
; 6: e39720, 2023 May 08.
Article
in English
| MEDLINE | ID: mdl-37155237
15.
Fear of Reprisal and Change Agency in the Public Health and Social Service System: Protocol for a Sequential Mixed Methods Study.
JMIR Res Protoc
; 12: e48400, 2023 Sep 21.
Article
in English
| MEDLINE | ID: mdl-37733408
16.
Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders.
Front Pediatr
; 11: 1172154, 2023.
Article
in English
| MEDLINE | ID: mdl-37609366
17.
Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences.
Front Pediatr
; 11: 1171920, 2023.
Article
in English
| MEDLINE | ID: mdl-37790694
18.
Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome.
Cells
; 12(14)2023 07 24.
Article
in English
| MEDLINE | ID: mdl-37508583
19.
Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity.
Int J Dev Neurosci
; 83(8): 715-727, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37724826
20.
Identifying Potential Gamification Elements for A New Chatbot for Families With Neurodevelopmental Disorders: User-Centered Design Approach.
JMIR Hum Factors
; 9(3): e31991, 2022 Aug 19.
Article
in English
| MEDLINE | ID: mdl-35984679