Detalhe da pesquisa
1.
Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Neurol Sci
; 44(7): 2527-2540, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849695
2.
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
Neurol Sci
; 39(12): 2123-2128, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209698
3.
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.
Hum Mol Genet
; 20(10): 1886-92, 2011 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21330303
4.
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.
Brain Dev
; 44(6): 391-400, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379526
5.
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3.
J Neurogenet
; 24(4): 207-15, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21087195
6.
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.
Brain Dev
; 40(6): 458-464, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29544888
7.
A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.
Brain Dev
; 38(8): 755-8, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27185474