Detalhe da pesquisa
1.
Spinning Disk Confocal Microscopy for Optimized and Quantified Live Imaging of 3D Mitochondrial Network.
Int J Mol Sci
; 25(9)2024 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38732037
2.
Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients.
Exp Eye Res
; 232: 109500, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37178956
3.
Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
Int J Mol Sci
; 24(9)2023 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175987
4.
Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy.
Int J Mol Sci
; 23(13)2022 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35806193
5.
Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy.
Int J Mol Sci
; 23(22)2022 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430572
6.
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
BMC Neurol
; 21(1): 313, 2021 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34384384
7.
Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy.
Brain
; 143(3): 771-782, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32011655
8.
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Hum Mol Genet
; 25(5): 1031-41, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26740552
9.
Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
Hum Reprod
; 33(7): 1331-1341, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29850888
10.
Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.
J Med Genet
; 54(10): 693-697, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28668821
11.
De novo mtDNA point mutations are common and have a low recurrence risk.
J Med Genet
; 54(2): 73-83, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450679
12.
A comprehensive strategy for exome-based preconception carrier screening.
Genet Med
; 19(5): 583-592, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28492530
13.
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
J Pediatr
; 182: 371-374.e2, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28081892
14.
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
Hum Reprod
; 32(3): 698-703, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28122886
15.
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
Eur Heart J
; 37(23): 1815-22, 2016 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497160
16.
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
Mol Genet Metab
; 117(3): 300-12, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26725255
17.
Mitochondrial DNA copy number in colorectal cancer: between tissue comparisons, clinicopathological characteristics and survival.
Carcinogenesis
; 36(12): 1502-10, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26476438
18.
Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.
BMC Genomics
; 16: 691, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26369791
19.
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success.
J Med Genet
; 50(2): 125-32, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23339111
20.
Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.
Nat Commun
; 15(1): 1232, 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38336715