Detalhe da pesquisa
1.
FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study.
Mov Disord
; 39(3): 519-525, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38124331
2.
The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness.
J Med Genet
; 59(12): 1165-1170, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35701103
3.
Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS.
Int J Mol Sci
; 24(17)2023 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686279
4.
The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities.
J Appl Res Intellect Disabil
; 36(2): 394-404, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647196
5.
Deviation scores: An innovative approach to interpreting cognitive test results for individuals with intellectual disabilities.
J Appl Res Intellect Disabil
; 36(6): 1218-1228, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553958
6.
Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
FASEB J
; 34(12): 16676-16692, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131090
7.
Age- and CGG repeat-related slowing of manual movement in fragile X carriers: A prodrome of fragile X-associated tremor ataxia syndrome?
Mov Disord
; 33(4): 628-636, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29389022
8.
Aging in Fragile X Premutation Carriers.
Cerebellum
; 15(5): 587-94, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27334385
9.
Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 171(8): 1139-1147, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27615674
10.
Fear-specific amygdala function in children and adolescents on the fragile x spectrum: a dosage response of the FMR1 gene.
Cereb Cortex
; 24(3): 600-13, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23146966
11.
Psychophysiological responses to emotional stimuli in children and adolescents with autism and fragile X syndrome.
J Clin Child Adolesc Psychol
; 44(2): 250-63, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24156344
12.
Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome.
Am J Med Genet A
; 164A(1): 141-55, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24352914
13.
Association between macroorchidism and intelligence in FMR1 premutation carriers.
Am J Med Genet A
; 164A(9): 2206-11, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24903624
14.
Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X-associated tremor/ataxia syndrome.
Ann Clin Transl Neurol
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38717724
15.
Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers.
J Neurol Sci
; 461: 123056, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772058
16.
Developmental Associations between Cognition and Adaptive Behavior in Intellectual and Developmental Disability.
Res Sq
; 2024 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260292
17.
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability.
Ther Adv Rare Dis
; 5: 26330040241245721, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38681798
18.
Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles.
Neuroimage
; 65: 288-98, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063447
19.
iBehavior - A Smartphone-Based Ecological Momentary Assessment Tool for the Assessment of Behavior Change in Neurodevelopmental Disorders.
Res Sq
; 2023 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131607
20.
iBehavior-a preliminary proof of concept study of a smartphone-based tool for the assessment of behavior change in neurodevelopmental disabilities.
Front Psychol
; 14: 1217821, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37920743