Detalhe da pesquisa
1.
Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor.
Ann Neurol
; 94(4): 713-726, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37486023
2.
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Am J Hum Genet
; 107(2): 311-324, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32738225
3.
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.
Epilepsia
; 64(2): 443-455, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318112
4.
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Hum Mol Genet
; 29(9): 1426-1439, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202298
5.
Genetic Susceptibility Loci in Genomewide Association Study of Cluster Headache.
Ann Neurol
; 90(2): 203-216, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34180076
6.
Genome-Wide Association Study Identifies Risk Loci for Cluster Headache.
Ann Neurol
; 90(2): 193-202, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184781
7.
The clinical characteristics of familial cluster headache.
Cephalalgia
; 42(8): 715-721, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35166160
8.
Is pituitary MRI screening necessary in cluster headache?
Cephalalgia
; 41(7): 779-788, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33406848
9.
Trigeminal neurovascular contact in SUNCT and SUNA: a cross-sectional magnetic resonance study.
Brain
; 143(12): 3619-3628, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33301567
10.
New insights in post-traumatic headache with cluster headache phenotype: a cohort study.
J Neurol Neurosurg Psychiatry
; 91(6): 572-579, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32381638
11.
Prevalence of familial cluster headache: a systematic review and meta-analysis.
J Headache Pain
; 21(1): 37, 2020 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32334514
12.
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Mov Disord
; 33(7): 1119-1129, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603387
13.
RFC1-related ataxia is a mimic of early multiple system atrophy.
J Neurol Neurosurg Psychiatry
; 2021 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33563805
14.
GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor.
Brain
; 143(7): e57, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516806
15.
Dopa-Responsive Parkinsonism in a Patient With Homozygous RFC1 Expansions.
Mov Disord
; 35(10): 1890-1891, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33068477
16.
Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.
J Neurol Neurosurg Psychiatry
; 89(11): 1226-1227, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29367260
17.
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.
J Neurol Neurosurg Psychiatry
; 89(11): 1230-1232, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29472272
18.
An outbreak of acute rheumatic fever in a remote Aboriginal community.
Aust N Z J Public Health
; 47(5): 100077, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37625204
19.
R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report.
Case Rep Neurol
; 13(1): 123-130, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33790770
20.
ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.
Neurology
; 96(6): e947-e955, 2021 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106390