Detalhe da pesquisa
1.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Am J Hum Genet
; 99(3): 735-743, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545679
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.
Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.
Biochem Soc Trans
; 42(4): 1069-74, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25110004
4.
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.
Mol Genet Metab
; 105(3): 463-71, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22221393
5.
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.
Mitochondrion
; 47: 24-29, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30986505
6.
Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.
EMBO Mol Med
; 8(10): 1197-1211, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27516453
7.
[Environmental and biological monitoring of exposure to polycyclic aromatic hydrocarbons in workers of an electric steel foundry]. / Monitoraggio ambientale e biologico dell'esposizione ad idrocarburi policiclici aromatici in lavoratori di una acciaieria elettrica.
Med Lav
; 96(5): 390-402, 2005.
Artigo
em Italiano
| MEDLINE | ID: mdl-16711640
8.
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²âº.
Front Genet
; 6: 185, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26136767
9.
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.
Semin Pediatr Neurol
; 19(2): 75-81, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22704260