Detalhe da pesquisa
1.
MicroRNA-Mediated Suppression of Glial Cell Line-Derived Neurotrophic Factor Expression Is Modulated by a Schizophrenia-Associated Non-Coding Polymorphism.
Int J Mol Sci
; 25(8)2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38674063
2.
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Am J Hum Genet
; 105(1): 108-121, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204009
3.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
4.
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder.
Neuropediatrics
; 52(2): 126-132, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33231275
5.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Brain
; 142(1): 50-58, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30576410
6.
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Am J Hum Genet
; 98(2): 358-62, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805782
7.
Genomic analysis of family data reveals additional genetic effects on intelligence and personality.
Mol Psychiatry
; 23(12): 2347-2362, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29321673
8.
Genetic variants linked to education predict longevity.
Proc Natl Acad Sci U S A
; 113(47): 13366-13371, 2016 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27799538
9.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29205472
10.
CAD mutations and uridine-responsive epileptic encephalopathy.
Brain
; 140(2): 279-286, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007989
11.
A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay.
Neuropediatrics
; 49(6): 401-404, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30199896
12.
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.
Neuropediatrics
; 49(1): 59-62, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28915517
13.
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.
Neuropediatrics
; 49(6): 373-378, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30114719
14.
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Neuropediatrics
; 49(5): 330-338, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940663
15.
Genomic prediction of complex human traits: relatedness, trait architecture and predictive meta-models.
Hum Mol Genet
; 24(14): 4167-82, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25918167
16.
ABCC1, an ATP binding cassette protein from grape berry, transports anthocyanidin 3-O-Glucosides.
Plant Cell
; 25(5): 1840-54, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23723325
17.
SWEET17, a facilitative transporter, mediates fructose transport across the tonoplast of Arabidopsis roots and leaves.
Plant Physiol
; 164(2): 777-89, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381066
18.
Sodium channel cleavage is associated with aberrant neuronal activity and cognitive deficits in a mouse model of Alzheimer's disease.
J Neurosci
; 33(16): 7020-6, 2013 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23595759
19.
Vacuolar transport of abscisic acid glucosyl ester is mediated by ATP-binding cassette and proton-antiport mechanisms in Arabidopsis.
Plant Physiol
; 163(3): 1446-58, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24028845
20.
Antisense inhibition of the iron-sulphur subunit of succinate dehydrogenase enhances photosynthesis and growth in tomato via an organic acid-mediated effect on stomatal aperture.
Plant Cell
; 23(2): 600-27, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21307286