Detalhe da pesquisa
1.
Molecular topography of an entire nervous system.
Cell
; 184(16): 4329-4347.e23, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237253
2.
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Am J Hum Genet
; 98(4): 597-614, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040688
3.
Insights into the genotype-phenotype correlation and molecular function of SLC25A46.
Hum Mutat
; 39(12): 1995-2007, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178502
4.
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Brain
; 137(Pt 1): 44-56, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24253200
5.
S-nitrosylation of ApoE in Alzheimer's disease.
Biochemistry
; 50(17): 3405-7, 2011 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21443265
6.
Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.
PLoS One
; 15(3): e0230566, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32208444
7.
The stress-responsive gene GDPGP1/mcp-1 regulates neuronal glycogen metabolism and survival.
J Cell Biol
; 219(2)2020 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31968056
8.
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.
Acta Neuropathol Commun
; 5(1): 55, 2017 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28709447
9.
Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish.
Front Mol Neurosci
; 9: 55, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27458342
10.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Nat Genet
; 47(8): 926-32, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26168012
11.
Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.
EMBO Mol Med
; 6(8): 1003-15, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25001218
12.
Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes.
Eur J Hum Genet
; 20(1): 69-76, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21829232
13.
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Autism Res
; 5(6): 385-97, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23055267