Detalhe da pesquisa
1.
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Mov Disord
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576116
2.
Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.
Clin Genet
; 103(1): 103-108, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071510
3.
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Brain
; 145(6): 1939-1948, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35773235
4.
CACNA1H variants are not a cause of monogenic epilepsy.
Hum Mutat
; 41(6): 1138-1144, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227660
5.
A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?
Mov Disord
; 39(5): 918-920, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419191
6.
Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation.
Parkinsonism Relat Disord
; 105: 7-8, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36323131
7.
Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease.
Parkinsonism Relat Disord
; 104: 88-90, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36274328
8.
The Impact of Family History on the Clinical Features of Huntington's Disease.
J Huntingtons Dis
; 6(4): 327-335, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28984613
9.
Reproductive decision-making among individuals at risk for familial amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener
; 16(1-2): 114-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25204983
10.
ALS Untangled No. 20: the Deanna protocol.
Amyotroph Lateral Scler Frontotemporal Degener
; 14(4): 319-23, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23638638