Detalhe da pesquisa
1.
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.
Cell
; 167(6): 1481-1494.e18, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912058
2.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
3.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
4.
Mutations in CSPP1 lead to classical Joubert syndrome.
Am J Hum Genet
; 94(1): 80-6, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360807
5.
Clinical features and molecular epidemiology of rotavirus and norovirus infections in Libyan children.
J Med Virol
; 83(10): 1849-56, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21837804
6.
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Nat Commun
; 11(1): 4038, 2020 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32788587
7.
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.
Pediatr Neurol
; 78: 35-40, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29239743
8.
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
Nat Genet
; 50(8): 1093-1101, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30013181
9.
Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Nat Commun
; 12(1): 1192, 2021 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33589599
10.
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Nat Genet
; 47(7): 809-13, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26005868
11.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Science
; 343(6170): 506-511, 2014 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-24482476
12.
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Science
; 338(6105): 394-7, 2012 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22956686
13.
Vogt-Koyanagi-Harada Syndrome as a case of aseptic meningitis in Children.
Saudi Med J
; 19(4): 519, 1998 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27704132