Detalhe da pesquisa
1.
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.
Int J Mol Sci
; 23(4)2022 Feb 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35216494
2.
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Mol Genet Metab
; 133(2): 222-229, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33972171
3.
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.
J Hum Genet
; 66(8): 835-840, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-33612823
4.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 101(5): 716-724, 2017 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29100085
5.
Dual-Targeted Autoimmune Sword in Fatal Epilepsy: Patient's glutamate receptor AMPA GluR3B peptide autoimmune antibodies bind, induce Reactive Oxygen Species (ROS) in, and kill both human neural cells and T cells.
J Autoimmun
; 112: 102462, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32561150
6.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Am J Hum Genet
; 98(4): 782-8, 2016 Apr 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27040691
7.
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.
Neurogenetics
; 19(4): 227-235, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30043326
8.
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.
Hum Mol Genet
; 25(14): 2985-2996, 2016 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27193168
9.
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.
Hum Mol Genet
; 25(21): 4635-4648, 2016 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28158450
10.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Am J Hum Genet
; 102(1): 196, 2018 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29304375
11.
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.
J Med Genet
; 52(11): 749-53, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26307567
12.
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
Am J Hum Genet
; 90(3): 518-23, 2012 Mar 09.
Artigo
Inglês
| MEDLINE | ID: mdl-22405087
13.
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Brain
; 137(Pt 4): 1030-8, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24566669
14.
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
J Inherit Metab Dis
; 35(1): 125-31, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21607760
15.
Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
Hum Mutat
; 32(11): 1259-67, 2011 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-21786365
16.
Macrophage migration inhibitory factor in Nodding syndrome.
PLoS Negl Trop Dis
; 15(10): e0009821, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34662363
17.
Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove.
PLoS Negl Trop Dis
; 14(7): e0008436, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32639997
18.
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Eur J Hum Genet
; 27(9): 1419-1426, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30976113
19.
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
Eur J Paediatr Neurol
; 20(1): 69-79, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26542466
20.
Retinol concentration in maternal and cord serum: its relation to birth weight in healthy mother-infant pairs.
Early Hum Dev
; 71(1): 19-28, 2003 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-12614947