Detalhe da pesquisa
1.
Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.
Clin Genet
; 105(2): 196-201, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850357
2.
Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Am J Med Genet A
; 182(11): 2605-2610, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32902138
3.
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Am J Med Genet A
; 179(7): 1362-1365, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059209
4.
COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes.
Stroke
; 52(10): e624-e625, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34470488
5.
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Sci Rep
; 14(1): 4306, 2024 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383731
6.
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Hum Mol Genet
; 17(23): 3822-35, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18775955
7.
[Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity]. / Mitokondriaalinen resessiivinen ataksia- syndrooma ja valproaattihoidon toksisuus.
Duodecim
; 126(13): 1552-9, 2010.
Artigo
em Fi
| MEDLINE | ID: mdl-20695297
8.
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).
Mitochondrion
; 45: 38-45, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29471047
9.
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Brain
; 130(Pt 11): 3032-40, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17921179
10.
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.
EMBO Mol Med
; 10(12)2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30373890
11.
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
Eur J Hum Genet
; 15(7): 779-83, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17426723
12.
Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.
J Neurol Sci
; 315(1-2): 160-3, 2012 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22166854
13.
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Lancet Neurol
; 10(9): 806-18, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21820356
14.
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
Am J Hum Genet
; 77(3): 430-41, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16080118