Detalhe da pesquisa
1.
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Mov Disord
; 39(3): 526-538, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214203
2.
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Am J Hum Genet
; 105(1): 213-220, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230721
3.
Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity.
Ann Neurol
; 89(1): 158-164, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094862
4.
The New p.F1700L LRRK2 Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity.
Mov Disord
; 38(6): 1105-1107, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36971062
5.
Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family.
Mov Disord
; 38(6): 1107-1109, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246629
6.
RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.
Mov Disord Clin Pract
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38487929
7.
Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B.
J Neurol
; 271(2): 1023-1027, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37861706
8.
Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease.
Parkinsonism Relat Disord
; 61: 151-155, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30424941
9.
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.
Parkinsonism Relat Disord
; 51: 91-95, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449188
10.
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
JAMA Neurol
; 74(7): 806-812, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558098
11.
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
Mov Disord Clin Pract
; 8(6): 972-976, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405109
12.
The role of mutations in COL6A3 in isolated dystonia.
J Neurol
; 263(4): 730-4, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26872670
13.
A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members.
Parkinsonism Relat Disord
; 54: 116-118, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29650490
14.
CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.
J Neurol
; 264(5): 1008-1010, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28321562
15.
A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation.
Clin Dysmorphol
; 19(4): 190-194, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20671549
16.
Validation of primed in situ labeling for interphase analysis of chromosomes 18, X, and Y in uncultured amniocytes.
Fetal Diagn Ther
; 18(2): 114-21, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12576747