Detalhe da pesquisa
1.
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Epilepsia
; 61(5): 995-1007, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32469098
2.
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
J Med Genet
; 55(9): 607-616, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29789371
3.
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Hum Mutat
; 36(9): 842-50, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26010655
4.
Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic.
Bioinformatics
; 30(15): 2179-88, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24733292
5.
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
Dev Med Child Neurol
; 56(4): 346-53, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24117048
6.
Imaging and genetics of language and cognition in pediatric epilepsy.
Epilepsy Behav
; 26(3): 303-12, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23116771
7.
Identification and characterization of the integrin alpha2beta1 binding motif in chondroadherin mediating cell attachment.
J Biol Chem
; 286(5): 3925-34, 2011 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21127050
8.
A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12.
Am J Hum Genet
; 84(2): 279-85, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19200526
9.
CMIP and ATP2C2 modulate phonological short-term memory in language impairment.
Am J Hum Genet
; 85(2): 264-72, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19646677
10.
Purification, crystallization and preliminary X-ray diffraction analysis of human chondroadherin.
Acta Crystallogr Sect F Struct Biol Cryst Commun
; 64(Pt 6): 516-9, 2008 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18540064
11.
Analysis of rare copy number variation in absence epilepsies.
Neurol Genet
; 2(2): e56, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27123475
12.
A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.
Ann Clin Transl Neurol
; 3(7): 512-22, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27386500
13.
Idiopathic focal epilepsies: the "lost tribe".
Epileptic Disord
; 18(3): 252-88, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27435520
14.
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Nat Genet
; 45(9): 1061-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23933820
15.
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Nat Genet
; 45(9): 1067-72, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23933819
16.
The genetics of reading disability in an often excluded sample: novel loci suggested for reading disability in Rolandic epilepsy.
PLoS One
; 7(7): e40696, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22815793