Detalhe da pesquisa
1.
Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders.
Ann Neurol
; 96(1): 175-186, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38721759
2.
Multisite Study of Evoked Potentials in Rett Syndrome.
Ann Neurol
; 89(4): 790-802, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33480039
3.
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Ann Neurol
; 88(2): 396-406, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472944
4.
Phenotypic features in MECP2 duplication syndrome: Effects of age.
Am J Med Genet A
; 185(2): 362-369, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170557
5.
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Clin Genet
; 95(5): 575-581, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788845
6.
Maladaptive behaviors in individuals with Angelman syndrome.
Am J Med Genet A
; 179(6): 983-992, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30942555
7.
Developmental milestones and daily living skills in individuals with Angelman syndrome.
J Neurodev Disord
; 16(1): 32, 2024 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38879552
8.
Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome.
Pediatr Neurol
; 152: 63-72, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38232652
9.
Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS).
J Autism Dev Disord
; 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38438817
10.
Feasibility of wearable devices and machine learning for sleep classification in children with Rett syndrome: A pilot study.
Digit Health
; 9: 20552076231191622, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37545628
11.
Top Caregiver Concerns in Rett syndrome and related disorders: data from the US Natural History Study.
Res Sq
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993737
12.
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.
J Neurodev Disord
; 15(1): 33, 2023 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37833681
13.
Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.
J Autism Dev Disord
; 53(2): 720-737, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517526
14.
Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.
J Autism Dev Disord
; 2023 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37581718
15.
Comparison of evoked potentials across four related developmental encephalopathies.
J Neurodev Disord
; 15(1): 10, 2023 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36870948
16.
Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class.
J Child Psychol Psychiatry
; 53(2): 152-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21831244
17.
Are children with Angelman syndrome at high risk for anesthetic complications?
Paediatr Anaesth
; 22(3): 263-7, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21801274
18.
Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome.
Contemp Clin Trials
; 114: 106704, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35149233
19.
Anxiety in Angelman Syndrome.
Am J Intellect Dev Disabil
; 127(1): 1-10, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34979033
20.
Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.
Brain Commun
; 4(4): fcac197, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35974796