Detalhe da pesquisa
1.
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Ann Neurol
; 82(1): 133-138, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28556183
2.
A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
Am J Med Genet A
; 170(7): 1912-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27119754
3.
Sleep architecture impairment in epileptic children and putative role of anti epileptic drugs.
Neurol Sci
; 34(1): 57-62, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22327310
4.
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Neurology
; 100(23): e2360-e2373, 2023 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076312
5.
Sleep-disordered breathing in children with congenital muscular dystrophies.
Eur J Paediatr Neurol
; 16(6): 619-24, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22425345