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.
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
Am J Hum Genet
; 89(4): 543-50, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981780
3.
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Mov Disord
; 28(2): 224-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23436634
4.
A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 48(9): 4012-8, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17724181
5.
Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy.
Ann Clin Transl Neurol
; 1(12): 1041-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574478
6.
Mitochondrial membrane protein-associated neurodegeneration (MPAN).
Int Rev Neurobiol
; 110: 73-84, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24209434
7.
Alterations of red cell membrane properties in neuroacanthocytosis.
PLoS One
; 8(10): e76715, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24098554
8.
Pantothenate kinase-associated neurodegeneration.
Curr Drug Targets
; 13(9): 1182-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22515741
9.
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
Ann Neurol
; 59(2): 248-56, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16437574