Detalhe da pesquisa
1.
Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease.
Mol Genet Metab
; 138(1): 106970, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36610259
2.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722775
3.
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
4.
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
5.
Deep brain stimulation treated dystonia-trajectory via status dystonicus.
Mov Disord
; 33(7): 1168-1173, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29786895
6.
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.
Ann Clin Transl Neurol
; 8(10): 1986-1990, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415117
7.
Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in DYT-KMT2B Patients with Evidence of Striatonigral Degeneration.
Mov Disord Clin Pract
; 9(7): 992-996, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36247903
8.
Unpredicted failure of deep brain stimulation by the impedance measures in a child with severe PANK2- gene related generalized dystonia.
Brain Stimul
; 15(4): 921-923, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35690387
9.
Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke.
Mov Disord Clin Pract
; 5(4): 436-438, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838298
10.
Corticosteroid treatment for traumatic acute subdural haematoma, maybe not such a good idea.
BMJ Case Rep
; 20172017 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28578310