Detalhe da pesquisa
1.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Am J Hum Genet
; 99(6): 1229-1244, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27817865
2.
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Am J Hum Genet
; 94(1): 11-22, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360804
3.
Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Mol Genet Metab
; 116(4): 289-97, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26547561
4.
4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN.
EMBO Mol Med
; 11(12): e10489, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660701
5.
Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency.
Sci Rep
; 7(1): 11260, 2017 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28900161