Detalhe da pesquisa
1.
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Nature
; 628(8009): 844-853, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570685
2.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128823
3.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
4.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
J Med Genet
; 60(1): 65-73, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34872991
5.
DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?
Pharmacogenomics J
; 23(5): 105-111, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138020
6.
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Clin Genet
; 104(6): 686-693, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37574199
7.
Nhlrc2 is crucial during mouse gastrulation.
Genesis
; 60(3): e23470, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35258166
8.
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein.
Clin Genet
; 102(5): 444-450, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908151
9.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588
10.
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.
J Inherit Metab Dis
; 45(2): 223-234, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34622459
11.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
J Allergy Clin Immunol
; 148(2): 599-611, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662367
12.
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.
J Inherit Metab Dis
; 44(2): 469-480, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32857451
13.
Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland.
Dev Med Child Neurol
; 63(9): 1066-1074, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33948933
14.
Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease.
Hum Mol Genet
; 27(24): 4288-4302, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239752
15.
Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.
Mol Med
; 26(1): 123, 2020 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33297935
16.
Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.
Clin Genet
; 98(5): 493-498, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32779182
17.
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
J Inherit Metab Dis
; 43(4): 726-736, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32391929
18.
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Am J Hum Genet
; 98(4): 735-43, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058446
19.
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Genet Med
; 21(10): 2355-2363, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940925
20.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Blood
; 129(16): 2266-2279, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202457