Detalhe da pesquisa
1.
Inhibition of motor neuron death in vitro and in vivo by a p75 neurotrophin receptor intracellular domain fragment.
J Cell Sci
; 129(3): 517-30, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26503157
2.
Protecting trust in medical genetics in the new era of forensics.
Genet Med
; 21(7): 1483-1485, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30559376
3.
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Nat Genet
; 30(4): 441-5, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11889467
4.
Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms.
MicroPubl Biol
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37008727
5.
The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis.
J Clin Invest
; 115(2): 258-67, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15668733
6.
Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.
Mol Genet Genomic Med
; 5(4): 418-428, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28717666
7.
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.
Genome Med
; 9(1): 97, 2017 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29149916
8.
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
Nat Commun
; 8(1): 611, 2017 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28931804
9.
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.
Eur J Hum Genet
; 24(11): 1612-1616, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27222290
10.
Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.
Neurology
; 86(8): 713-22, 2016 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26802095
11.
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.
BMC Med Genet
; 6: 16, 2005 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-15850492
12.
Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing.
Neuroscientist
; 21(6): 599-615, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25378359
13.
C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.
Neurobiol Aging
; 36(9): 2660.e1-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26142124
14.
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.
Am J Med Genet
; 112(4): 405-11, 2002 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12376946
15.
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.
Brain Dev
; 24(5): 266-8, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12142061
16.
RNA-binding proteins in neurological diseases.
Sci China Life Sci
; 57(4): 432-44, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24658850
17.
What does Australia's investment in genomics mean for public health?
Aust N Z J Public Health
; 43(3): 204-206, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30830712
18.
Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain.
Amyotroph Lateral Scler Frontotemporal Degener
; 14(4): 252-60, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23134510
19.
Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
J Child Neurol
; 24(5): 610-4, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19264739
20.
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.
Genomics
; 84(1): 69-81, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15203205