Detalhe da pesquisa
1.
CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia.
Neurobiol Dis
; 195: 106498, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38583639
2.
NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework.
Brief Bioinform
; 23(1)2022 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34529041
3.
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
Brain
; 145(10): 3415-3430, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35656794
4.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718920
5.
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Genet Med
; 23(9): 1769-1778, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040194
6.
Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer's disease models and human brains.
Acta Neuropathol
; 141(1): 39-65, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33079262
7.
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Hum Mutat
; 41(8): 1394-1406, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32419253
8.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Am J Hum Genet
; 100(1): 151-159, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27989324
9.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923172
10.
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Hum Mol Genet
; 26(9): 1599-1611, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335035
11.
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Genet Med
; 21(6): 1407-1416, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30393377
12.
NDUFS6 related Leigh syndrome: a case report and review of the literature.
J Hum Genet
; 64(7): 637-645, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30948790
13.
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse.
Acta Neuropathol
; 138(1): 123-145, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30874923
14.
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
Neurobiol Dis
; 119: 159-171, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30092269
15.
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
BMC Med Genet
; 19(1): 57, 2018 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625556
16.
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Hum Mutat
; 38(7): 764-777, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28432734
17.
Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.
Mol Genet Metab
; 121(3): 224-226, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28529009
18.
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
Muscle Nerve
; 55(6): 919-922, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27438479
19.
Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.
Biol Res
; 49: 4, 2016 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26742794
20.
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Nat Genet
; 39(6): 776-80, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17486094