Detalhe da pesquisa
1.
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Hum Genet
; 138(11-12): 1313-1322, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673819
2.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Am J Hum Genet
; 94(2): 209-22, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462369
3.
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
J Med Genet
; 53(11): 768-775, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27412952
4.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Brain
; 138(Pt 12): 3503-19, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26510951
5.
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Am J Hum Genet
; 91(4): 737-43, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23022098
6.
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Brain
; 137(Pt 2): 366-79, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334290
7.
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.
Hum Mutat
; 34(10): 1366-70, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23878101
8.
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
Hum Mol Genet
; 17(16): 2496-506, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18487244
9.
Next generation mitochondrial disease: change in diagnostics with eyes on therapy.
J Inherit Metab Dis
; 38(3): 387-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25926091
10.
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.
Mol Genet Metab Rep
; 25: 100657, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33134083
11.
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
Hum Genet
; 124(2): 187-93, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18709504
12.
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
EMBO Mol Med
; 10(11)2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201738
13.
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.
JIMD Rep
; 15: 13-27, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24718837
14.
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
Eur J Hum Genet
; 23(7): 935-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25293719
15.
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
J Neuropathol Exp Neurol
; 74(7): 688-703, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26083569
16.
Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.
J Histochem Cytochem
; 50(7): 877-84, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12070266
17.
Heterogeneous distribution of pyruvate dehydrogenase in the matrix of mitochondria.
Mitochondrion
; 1(4): 327-38, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16120287
18.
A national perspective on prenatal testing for mitochondrial disease.
Eur J Hum Genet
; 22(11): 1255-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24642831
19.
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Orphanet J Rare Dis
; 8: 188, 2013 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24299452
20.
SURF1 deficiency: a multi-centre natural history study.
Orphanet J Rare Dis
; 8: 96, 2013 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23829769