Detalhe da pesquisa
1.
NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons.
BMC Neurosci
; 22(1): 56, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34525970
2.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
3.
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.
Neuromuscul Disord
; 30(1): 35-37, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31932168
4.
FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.
J Child Neurol
; 34(10): 621, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31106652
5.
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Eur J Med Genet
; 62(3): 204-209, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30031152
6.
Increased Ca2+ signaling in NRXN1α+/- neurons derived from ASD induced pluripotent stem cells.
Mol Autism
; 10: 52, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31893021
7.
"No-No" Head Tremor-A Nod to the Diagnosis.
Pediatr Neurol
; 100: 104, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31003879
8.
Dramatic Improvement of a Rare Syndrome With High Dose Riboflavin Treatment.
Pediatr Neurol
; 86: 77-78, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30072240
9.
Interferonopathies in laboratory-negative suspected congenital infection.
Lancet Infect Dis
; 18(1): 27, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29303735
10.
Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?
Arch Dis Child
; 103(3): 304, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28939639