Detalhe da pesquisa
1.
Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia.
Brain
; 146(6): 2512-2523, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445406
2.
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Brain
; 146(10): 4233-4246, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186601
3.
Pharmacological and neurosurgical management of cerebral palsy and dystonia: Clinical practice guideline update.
Dev Med Child Neurol
; 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38640091
4.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722775
5.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
; 143(11): 3242-3261, 2020 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150406
6.
Deep Brain Stimulation of the Internal Pallidum in Lesch-Nyhan Syndrome: Clinical Outcomes and Connectivity Analysis.
Neuromodulation
; 24(2): 380-391, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573906
7.
Deep brain stimulation reduces pain in children with dystonia, including in dyskinetic cerebral palsy.
Dev Med Child Neurol
; 62(8): 917-925, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386250
8.
Pharmacological and neurosurgical interventions for managing dystonia in cerebral palsy: a systematic review.
Dev Med Child Neurol
; 60(4): 356-366, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29405267
9.
Reply to: "GNAO1 Haploinsufficiency Associated with a Mild Delayed-Onset Dystonia Phenotype".
Mov Disord
; 37(12): 2466-2467, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36533587
10.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Mov Disord
; 32(11): 1620-1630, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28845923
11.
Advances in pharmacotherapies for movement disorders in children: current limitations and future progress.
Curr Opin Pediatr
; 29(6): 652-664, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29120894
12.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics
; 48(3): 166-184, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561207
13.
Fractional anisotropy in children with dystonia or spasticity correlates with the selection for DBS or ITB movement disorder surgery.
Neuroradiology
; 58(4): 401-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26759316
14.
Tensor and non-tensor tractography for the assessment of the corticospinal tract of children with motor disorders: a comparative study.
Neuroradiology
; 58(10): 1005-1016, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27447871
15.
N-methyl-d-aspartate (NMDA) receptor antibodies encephalitis mimicking an autistic regression.
Dev Med Child Neurol
; 58(10): 1092-4, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27255282
16.
Burke-Fahn-Marsden dystonia severity, Gross Motor, Manual Ability, and Communication Function Classification scales in childhood hyperkinetic movement disorders including cerebral palsy: a 'Rosetta Stone' study.
Dev Med Child Neurol
; 58(2): 145-53, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26616635
17.
A field guide to current advances in paediatric movement disorders.
Curr Opin Neurol
; 28(4): 437-46, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110804
18.
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.
Am J Med Genet A
; 167(6): 1300-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846562
19.
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Brain
; 137(Pt 1): 44-56, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24253200
20.
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
J Med Genet
; 51(2): 76-82, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24262145