Detalhe da pesquisa
1.
Multisite Study of Evoked Potentials in Rett Syndrome.
Ann Neurol
; 89(4): 790-802, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33480039
2.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934918
3.
Severe speech impairment is a distinguishing feature of FOXP1-related disorder.
Dev Med Child Neurol
; 63(12): 1417-1426, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34109629
4.
Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.
Dev Med Child Neurol
; 63(11): 1308-1315, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34028805
5.
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
Hum Mutat
; 41(7): 1238-1249, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112660
6.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691892
7.
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
Epilepsia
; 60(8): 1733-1742, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313283
8.
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
Muscle Nerve
; 57(4): 550-560, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29149770
9.
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Am J Hum Genet
; 95(2): 218-26, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087613
10.
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Am J Hum Genet
; 93(6): 1108-17, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268659
11.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Am J Hum Genet
; 93(1): 6-18, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746549
12.
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.
Pediatr Neurol
; 138: 71-80, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403551
13.
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
14.
Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.
Brain Commun
; 4(4): fcac197, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35974796
15.
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome.
iScience
; 25(9): 104966, 2022 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36060065
16.
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.
Brain Sci
; 11(7)2021 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356165
17.
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).
Stem Cell Res
; 53: 102276, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33714067
18.
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.
J Neurodev Disord
; 13(1): 40, 2021 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34530725
19.
Expansion of the genetic landscape of ERLIN2-related disorders.
Ann Clin Transl Neurol
; 7(4): 573-578, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32147972
20.
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Pediatr Neurol
; 97: 18-25, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30928302