Detalhe da pesquisa
1.
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Am J Hum Genet
; 106(2): 246-255, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004447
2.
Perampanel as precision therapy in rare genetic epilepsies.
Epilepsia
; 64(4): 866-874, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36734057
3.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Hum Mutat
; 42(6): 762-776, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847017
4.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
5.
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.
Hum Mutat
; 41(2): 476-486, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31692205
6.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Am J Hum Genet
; 101(4): 516-524, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28942967
7.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet
; 100(2): 257-266, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132689
8.
Functional parameter measurements in children with ataxia telangiectasia.
Dev Med Child Neurol
; 62(2): 207-213, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31468510
9.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Am J Hum Genet
; 99(6): 1229-1244, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27817865
10.
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
Mol Genet Metab
; 128(1-2): 151-161, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31445883
11.
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Ann Neurol
; 84(5): 638-647, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178464
12.
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.
Brain
; 140(3): 568-581, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28364549
13.
Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.
J Pediatr Gastroenterol Nutr
; 62(4): 550-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26594831
14.
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Genet Med
; 17(10): 774-81, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25590979
15.
Short Stature and Distinct Growth Characteristics in Angelman Syndrome.
Horm Res Paediatr
; 2023 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37844556
16.
Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study.
Eur J Paediatr Neurol
; 47: 6-12, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639777
17.
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels.
Nat Metab
; 5(9): 1595-1614, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37653044
18.
The Long-Term Effectiveness and Safety of Cannabidiol-Enriched Oil in Children With Drug-Resistant Epilepsy.
Pediatr Neurol
; 136: 15-19, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36049378
19.
Felbamate for pediatric epilepsy-should we keep on using it as the last resort?
Front Neurol
; 13: 979725, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203978
20.
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Front Genet
; 13: 1018062, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36699461