Detalhe da pesquisa
1.
Diffusion tensor imaging in pediatric patients with dystonia.
Neuroimage
; 287: 120507, 2024 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38244876
2.
GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism.
Mov Disord
; 39(3): 601-606, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38358016
3.
Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.
Brain
; 2023 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38079528
4.
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
J Neurol Neurosurg Psychiatry
; 94(10): 806-815, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37225406
5.
Long-Term Follow-Up of Pediatric Patients with Dyskinetic Cerebral Palsy and Deep Brain Stimulation.
Mov Disord
; 38(9): 1736-1742, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37358761
6.
Quality of Life After Deep Brain Stimulation of Pediatric Patients with Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study with a Subsequent Randomized Double-Blind Crossover (STIM-CP).
Mov Disord
; 37(4): 799-811, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34967053
7.
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.
J Inherit Metab Dis
; 45(2): 169-182, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34741542
8.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(8): 1426-1428, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32451403
9.
The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(3): 511-523, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31680123
10.
Pallidal Deep Brain Stimulation Reduces Sensorimotor Cortex Activation in Focal/Segmental Dystonia.
Mov Disord
; 35(4): 629-639, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31922299
11.
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
J Hum Genet
; 64(8): 803-813, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31165786
12.
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
J Hum Genet
; 64(10): 1051-1054, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-31388109
13.
The Appendicular Lean Mass Index Is a Suitable Surrogate for Muscle Mass in Children with Cerebral Palsy.
J Nutr
; 149(10): 1863-1868, 2019 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31204786
14.
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.
Neuropediatrics
; 49(6): 379-384, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30165711
15.
Young adults with dyskinetic cerebral palsy improve subjectively on pallidal stimulation, but not in formal dystonia, gait, speech and swallowing testing.
Eur Neurol
; 72(5-6): 340-8, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25322688
16.
Effects of deep brain stimulation in dyskinetic cerebral palsy: a meta-analysis.
Mov Disord
; 28(5): 647-54, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23408442
17.
Dystonia management across Europe within ERN-RND: current state and future challenges.
J Neurol
; 270(2): 797-809, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36201015
18.
Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.
Genes (Basel)
; 14(10)2023 09 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37895210
19.
Neuroimaging-based analysis of DBS outcomes in pediatric dystonia: Insights from the GEPESTIM registry.
Neuroimage Clin
; 39: 103449, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37321142
20.
Crossed cerebellar diaschisis after status epilepticus in a young child.
Neuropediatrics
; 43(2): 55-8, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22473242