Detalhe da pesquisa
1.
Genomic investigations of unexplained acute hepatitis in children.
Nature
; 617(7961): 564-573, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996872
2.
A molecular and cellular analysis of human embryonic optic fissure closure related to the eye malformation coloboma.
Development
; 147(24)2020 12 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33158926
3.
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
J Am Soc Nephrol
; 33(2): 305-325, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34607911
4.
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Hum Mol Genet
; 27(11): 1927-1940, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29635513
5.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genet Med
; 22(1): 199-209, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31462754
6.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Ann Neurol
; 84(5): 766-780, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295347
7.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet
; 95(5): 611-21, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439728
8.
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
J Inherit Metab Dis
; 40(3): 385-394, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255779
9.
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Brain
; 139(11): 2844-2854, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604308
10.
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
J Neurosci Res
; 94(4): 339-47, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26762174
11.
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.
Brain
; 138(Pt 10): 2834-46, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26122121
12.
Astrovirus VA1/HMO-C: an increasingly recognized neurotropic pathogen in immunocompromised patients.
Clin Infect Dis
; 60(6): 881-8, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25572899
13.
Human pathology in NCL.
Biochim Biophys Acta
; 1832(11): 1807-26, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23200925
14.
The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells.
J Neurochem
; 129(3): 426-33, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24383952
15.
Human Coronavirus OC43 Associated with Fatal Encephalitis.
N Engl J Med
; 375(5): 497-8, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27518687
16.
Ultrastructural features of neuroblastic tumours in relation to morphological, and molecular findings; a retrospective review study.
BMC Clin Pathol
; 14: 13, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24679140
17.
mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis.
Acta Neuropathol
; 126(2): 207-18, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23728790
18.
Fourth ventricle rosette-forming glioneuronal tumour in children: an unusual presentation in an 8-year-old patient, discussion and review of the literature.
Childs Nerv Syst
; 29(5): 839-47, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23239254
19.
A Commentary on "Racism Within the Deaf Community".
Am Ann Deaf
; 168(4): 213-225, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38588098
20.
Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy.
F1000Res
; 12: 155, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38434662