Detalhe da pesquisa
1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
2.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
3.
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Brain
; 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242634
4.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Am J Hum Genet
; 108(9): 1669-1691, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314705
5.
Gene therapy for neurotransmitter-related disorders.
J Inherit Metab Dis
; 47(1): 176-191, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221762
6.
Mouse models for inherited monoamine neurotransmitter disorders.
J Inherit Metab Dis
; 47(3): 533-550, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168036
7.
Fetal gene therapy.
J Inherit Metab Dis
; 47(1): 192-210, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470194
8.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
9.
Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management.
J Pediatr Orthop
; 44(1): e61-e68, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37867374
10.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
11.
Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases.
Mov Disord
; 38(6): 924-936, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37147851
12.
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism.
Mov Disord
; 38(4): 646-653, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727539
13.
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Mov Disord
; 38(10): 1914-1924, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37485550
14.
The dopamine transporter gene SLC6A3: multidisease risks.
Mol Psychiatry
; 27(2): 1031-1046, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34650206
15.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
J Inherit Metab Dis
; 2023 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402126
16.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
; 104(5): 948-956, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982612
17.
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Genet Med
; 24(4): 880-893, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101335
18.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
19.
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Mov Disord
; 37(2): 237-252, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34908184
20.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588