Detalhe da pesquisa
1.
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.
Hum Genomics
; 17(1): 24, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36941667
2.
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
Clin Genet
; 104(3): 365-370, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37177896
3.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
4.
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
Mov Disord
; 37(6): 1294-1298, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35384065
5.
Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.
J Med Genet
; 57(6): 400-404, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31937560
6.
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
J Med Genet
; 57(5): 339-346, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31924698
7.
Cognitive impairment in children with CACNA1A mutations.
Dev Med Child Neurol
; 62(3): 330-337, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31115040
8.
Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy.
Stroke
; 50(4): 789-796, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30908154
9.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997391
10.
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.
Neuropediatrics
; 50(5): 308-312, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31226716
11.
Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation.
J Stroke Cerebrovasc Dis
; 28(2): e3-e4, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30501978
12.
Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.
J Neurol Neurosurg Psychiatry
; 95(1): 98-100, 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451692
13.
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Brain
; 140(6): 1579-1594, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444220
14.
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
Dev Med Child Neurol
; 60(12): 1256-1263, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29926469
15.
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
Dev Med Child Neurol
; 58(6): 639-44, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26814174
16.
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
J Neurol Neurosurg Psychiatry
; 86(7): 782-5, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25595153
17.
Cerebral cavernous malformations arise independent of the heart of glass receptor.
Stroke
; 45(5): 1505-1509, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24643410
18.
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.
Eur J Hum Genet
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38755314
19.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine
; 99: 104931, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150853
20.
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.
Neurogenetics
; 14(2): 133-41, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23595507