Detalhe da pesquisa
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36965478
2.
Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia.
Dev Med Child Neurol
; 55(2): 167-172, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23121133
3.
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings.
Brain Dev
; 43(2): 308-313, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-33139125
4.
Valine metabolites analysis in ECHS1 deficiency.
Mol Genet Metab Rep
; 29: 100809, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34667719
5.
First video report of static encephalopathy of childhood with neurodegeneration in adulthood.
Mov Disord
; 28(3): 397-9, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23390121
6.
The usefulness of subtraction ictal SPECT and ictal near-infrared spectroscopic topography in patients with West syndrome.
Brain Dev
; 35(10): 887-93, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24047572