Detalhe da pesquisa
1.
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 683-694, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545674
2.
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Brain
; 140(5): 1267-1279, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335020
3.
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
Eur J Med Genet
; 63(3): 103766, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31536827
4.
Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.
Neurol Genet
; 2(1): e46, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066583
5.
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
Neurology
; 85(4): 306-15, 2015 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-26115735