Detalhe da pesquisa
1.
Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP.
Proc Natl Acad Sci U S A
; 120(27): e2302534120, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37364131
2.
Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues.
Neurobiol Dis
; 194: 106486, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38548140
3.
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Hum Mol Genet
; 31(4): 625-637, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559195
4.
Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation.
Sensors (Basel)
; 24(8)2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676203
5.
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
Genet Med
; 25(3): 100349, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36470574
6.
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Mol Genet Metab
; 140(3): 107656, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517328
7.
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Am J Med Genet A
; 191(8): 2015-2044, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392087
8.
Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.
Exp Brain Res
; 241(8): 1975-1987, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37347418
9.
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.
Mol Ther
; 30(7): 2416-2428, 2022 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35585789
10.
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
11.
Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
Cerebellum
; 21(1): 86-98, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046842
12.
Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.
Am J Med Genet A
; 188(4): 1029-1039, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889523
13.
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
Am J Med Genet A
; 188(3): 858-866, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148024
14.
Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study.
Brain Cogn
; 159: 105851, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279590
15.
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Genet Med
; 23(9): 1656-1663, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958749
16.
Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.
Mov Disord
; 36(10): 2378-2386, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117786
17.
The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS.
Cerebellum
; 20(2): 212-221, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33118140
18.
Optimization of Protocols for Detection of De Novo Protein Synthesis in Whole Blood Samples via Azide-Alkyne Cycloaddition.
J Proteome Res
; 19(9): 3856-3866, 2020 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32786687
19.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100095
20.
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Mol Genet Metab
; 131(4): 405-417, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257258