Detalhe da pesquisa
1.
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Brain
; 147(6): 2023-2037, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38242634
2.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Hum Mol Genet
; 31(4): 523-534, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508595
3.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
4.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
5.
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
6.
Dystonia in individuals with spastic cerebral palsy and isolated periventricular leukomalacia.
Dev Med Child Neurol
; 65(1): 94-99, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661146
7.
Determinants of gait dystonia severity in cerebral palsy.
Dev Med Child Neurol
; 65(7): 968-977, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36701240
8.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
9.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979048
10.
Gait features of dystonia in cerebral palsy.
Dev Med Child Neurol
; 63(6): 748-754, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33411352
11.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Mov Disord
; 35(8): 1357-1368, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472658
12.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
J Inherit Metab Dis
; 43(5): 1121-1130, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369189
13.
Treatable Movement Disorders of Infancy and Early Childhood.
Semin Neurol
; 40(2): 177-191, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32079029
14.
Genetic mimics of cerebral palsy.
Mov Disord
; 34(5): 625-636, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30913345
15.
Selective Serotonin Reuptake Inhibitor Treatment Post Gene Therapy for an Ultrarare Neurometabolic Disorder (AADC Deficiency).
J Am Acad Child Adolesc Psychiatry
; 63(6): 571-573, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38460745
16.
Caregiver descriptions of dystonia in cerebral palsy.
Ann Clin Transl Neurol
; 11(2): 242-250, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38174361
17.
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Curr Neurol Neurosci Rep
; 13(4): 342, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23443458
18.
Under-recognition of leg dystonia in people with cerebral palsy.
Ann Child Neurol Soc
; 1(2): 162-167, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38464792
19.
Brain Region Size Differences Associated With Dystonia in People With Cerebral Palsy Born Premature.
Pediatr Neurol
; 148: 8-13, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37633215
20.
Quantifying Patient Investment in Novel Neurological Drug Development.
Neurotherapeutics
; 19(5): 1507-1513, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764764