Detalhe da pesquisa
1.
ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
Ann Neurol
; 90(2): 319-323, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34180078
2.
PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.
Mov Disord
; 32(2): 287-291, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27753167
3.
Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism.
Mov Disord
; 33(12): 1968-1970, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30452786
4.
Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.
Sci Rep
; 10(1): 968, 2020 01 22.
Artigo
Inglês
| MEDLINE | ID: mdl-31969655
5.
Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased ß-Synuclein Expression, and Defects in Brain Functions and Pathways.
Mol Neurobiol
; 55(8): 6734-6754, 2018 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-29344929
6.
Molecular characterization of PRKN structural variations identified through whole-genome sequencing.
Mol Genet Genomic Med
; 6(6): 1243-1248, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30328284
7.
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
Neurobiol Aging
; 62: 244.e15-244.e17, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29175279
8.
A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.
Mol Neurobiol
; 55(4): 3477-3489, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28502045
9.
Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia.
NPJ Genom Med
; 22017.
Artigo
Inglês
| MEDLINE | ID: mdl-29123918
10.
Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease.
Neurol Genet
; 3(5): e177, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28808687
11.
A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.
J Parkinsons Dis
; 7(3): 459-463, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28671144
12.
A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors.
Neurol Genet
; 5(5): e356, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31583274