Detalhe da pesquisa
1.
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.
Hum Mol Genet
; 24(11): 3248-56, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736212
2.
Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus.
Am J Med Genet A
; 164A(11): 2922-5, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125337
3.
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
Neurogenetics
; 14(2): 153-60, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23532514
4.
Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.
BMC Med Genet
; 14: 105, 2013 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24099403
5.
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
J Inherit Metab Dis
; 36(1): 43-53, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22569581
6.
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
Neurogenetics
; 13(4): 375-86, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22986587
7.
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Neurogenetics
; 13(3): 195-203, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22526352
8.
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
J Inherit Metab Dis
; 35(5): 761-76, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22170564
9.
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
Neurogenetics
; 12(1): 9-17, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21203893
10.
Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.
J Bioenerg Biomembr
; 43(6): 683-90, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21993659
11.
Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.
Neurol Sci
; 36(11): 2151-5, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26169758
12.
Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene.
J Cell Biochem
; 106(5): 878-86, 2009 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19160410
13.
Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders.
Biochem Biophys Res Commun
; 383(1): 58-62, 2009 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-19332025
14.
Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.
Clin Chim Acta
; 398(1-2): 86-9, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18793625
15.
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Brain
; 130(Pt 3): 862-74, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17301081
16.
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.
Nat Cell Biol
; 20(12): 1370-1377, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30397314
17.
Infantile mitochondrial disorders.
Biosci Rep
; 27(1-3): 105-12, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17486440
18.
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.
J Neurol Sci
; 362: 287-91, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26944165
19.
A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.
J Child Neurol
; 30(2): 228-32, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24659738
20.
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.
Biochem Biophys Res Commun
; 342(2): 387-93, 2006 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-16483543