Detalhe da pesquisa
1.
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
2.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Acta Neuropathol
; 135(5): 727-742, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423877
12.
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
Epilepsia
; 59(11): 2125-2136, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30255931
13.
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
Neuropediatrics
; 49(4): 256-261, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801191
14.
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Mol Genet Metab
; 120(4): 337-341, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28216384
15.
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.
Neuropediatrics
; 48(3): 194-198, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28388738
16.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
J Inherit Metab Dis
; 39(2): 243-52, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26475597
17.
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Eur J Hum Genet
; 32(5): 576-583, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467730
18.
Starting a DBS service for children: It's not the latitude but the attitude - Establishment of the paediatric DBS centre in Northern Finland.
Eur J Paediatr Neurol
; 36: 107-114, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34953338
19.
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Dis Model Mech
; 15(10)2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36285626
20.
Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Eur J Hum Genet
; 28(4): 532, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31506600