Detalhe da pesquisa
1.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
2.
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Brain
; 146(7): 2730-2738, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36860166
3.
Genetics, sex, and gender.
J Neurosci Res
; 101(5): 553-562, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34498752
4.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord
; 38(12): 2241-2248, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750340
5.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Ann Neurol
; 89(3): 485-497, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33236446
6.
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.
Eur J Neurol
; 29(7): 2056-2065, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286755
7.
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
Neurogenetics
; 22(4): 347-351, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387792
8.
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
Neurogenetics
; 22(1): 65-70, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33471268
9.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808683
10.
The Role of VPS35 in the Pathobiology of Parkinson's Disease.
Cell Mol Neurobiol
; 41(2): 199-227, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32323152
11.
Idiopathic brain calcification in a patient with hereditary hemochromatosis.
BMC Neurol
; 20(1): 113, 2020 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32228506
12.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Brain
; 142(1): 59-69, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561534
13.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Am J Hum Genet
; 98(4): 763-71, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058447
14.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Am J Hum Genet
; 99(6): 1229-1244, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27817865
15.
ANO3 as a Cause of Early-Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution.
Mov Disord
; 39(1): 220-221, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38073131
16.
Reply to: "Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant".
Mov Disord
; 39(3): 632-633, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38525607
17.
Pure Parkinsonism as Possible Phenotype Expansion of THAP1-Related Disorders.
Mov Disord
; 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38358056
18.
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
Mov Disord
; 39(4): 747-749, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380600
19.
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders.
Mov Disord
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516945
20.
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Mov Disord
; 34(10): 1516-1527, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216378