Detalhe da pesquisa
1.
Polygenic risk provides biological validity for the ICHD-3 criteria among Finnish migraine families.
Cephalalgia
; 42(4-5): 345-356, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34648375
2.
De novo mutations in schizophrenia implicate synaptic networks.
Nature
; 506(7487): 179-84, 2014 Feb 13.
Artigo
Inglês
| MEDLINE | ID: mdl-24463507
3.
Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling.
Circulation
; 137(3): 222-232, 2018 01 16.
Artigo
Inglês
| MEDLINE | ID: mdl-28982690
4.
The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families.
Cephalalgia
; 38(12): 1849-1863, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29486580
5.
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
J Med Genet
; 54(9): 598-606, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28756411
6.
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Am J Hum Genet
; 93(5): 967-75, 2013 Nov 07.
Artigo
Inglês
| MEDLINE | ID: mdl-24207121
7.
Migraine, Stroke, and Cervical Arterial Dissection: Shared Genetics for a Triad of Brain Disorders With Vascular Involvement.
Neurol Genet
; 8(1): e653, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-35128049
8.
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles.
Nat Genet
; 54(2): 152-160, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35115687
9.
Phenotypic and Genotypic Associations Between Migraine and Lipoprotein Subfractions.
Neurology
; 97(22): e2223-e2235, 2021 11 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34635557
10.
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.
Genome Med
; 12(1): 28, 2020 03 17.
Artigo
Inglês
| MEDLINE | ID: mdl-32183904
11.
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Nat Commun
; 10(1): 410, 2019 01 24.
Artigo
Inglês
| MEDLINE | ID: mdl-30679432
12.
Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.
Neuron
; 98(4): 743-753.e4, 2018 05 16.
Artigo
Inglês
| MEDLINE | ID: mdl-29731251
13.
Analysis of shared heritability in common disorders of the brain.
Science
; 360(6395)2018 06 22.
Artigo
Inglês
| MEDLINE | ID: mdl-29930110
14.
Shared genetic risk between migraine and coronary artery disease: A genome-wide analysis of common variants.
PLoS One
; 12(9): e0185663, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28957430
15.
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
PLoS One
; 11(3): e0150426, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26990884
16.
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Mol Genet Genomic Med
; 4(4): 457-64, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-27465585
17.
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Nat Genet
; 48(8): 856-66, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27322543
18.
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
EMBO Mol Med
; 7(12): 1580-94, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26613940
19.
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
EBioMedicine
; 2(9): 1063-70, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26501104
20.
Genetic analysis for a shared biological basis between migraine and coronary artery disease.
Neurol Genet
; 1(1): e10, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-27066539