Detalhe da pesquisa
1.
Negative Myoclonus: Neurophysiological Study and Clinical Impact in Progressive Myoclonus Ataxia.
Mov Disord
; 39(4): 674-683, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385661
2.
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.
J Neural Transm (Vienna)
; 129(8): 1011-1021, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35829818
3.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
4.
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.
Int J Mol Sci
; 21(16)2020 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32823520
5.
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Mov Disord
; 38(12): 2313-2314, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632268
6.
Attention in Parkinson's disease with fatigue: evidence from the attention network test.
J Neural Transm (Vienna)
; 124(3): 335-345, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27783210
7.
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.
Parkinsonism Relat Disord
; 111: 105405, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37142469
8.
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.
Front Neurol
; 13: 886751, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36003298
9.
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male.
Mol Genet Metab Rep
; 22: 100560, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32099815
10.
Reply to: Partially Levodopa-Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant.
Mov Disord Clin Pract
; 2024 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38616337
11.
Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency.
Mov Disord Clin Pract
; 11(4): 434-437, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293791
12.
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient.
Mov Disord Clin Pract
; 10(9): 1430-1432, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37772301
13.
Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.
Mov Disord Clin Pract
; 9(Suppl 2): S41-S43, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36118517
14.
Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant.
Mov Disord Clin Pract
; 7(1): 118-119, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31970230