Detalhe da pesquisa
1.
Genetics, sex, and gender.
J Neurosci Res
; 101(5): 553-562, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34498752
2.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord
; 38(12): 2241-2248, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750340
3.
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Epilepsia
; 64(8): e170-e176, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114479
4.
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.
Eur J Neurol
; 29(7): 2056-2065, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286755
5.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain
; 144(12): 3635-3650, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114611
6.
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
Neurogenetics
; 22(4): 347-351, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387792
7.
The Role of VPS35 in the Pathobiology of Parkinson's Disease.
Cell Mol Neurobiol
; 41(2): 199-227, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32323152
8.
Idiopathic brain calcification in a patient with hereditary hemochromatosis.
BMC Neurol
; 20(1): 113, 2020 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32228506
9.
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Mov Disord
; 34(10): 1516-1527, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216378
10.
THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.
Mov Disord
; 36(6): 1463-1464, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33665847
11.
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.
Mov Disord
; 36(6): 1461-1462, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33638881
12.
Terson's syndrome.
Pract Neurol
; 20(2): 163-164, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31666299
13.
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.
Mov Disord Clin Pract
; 11(1): 87-93, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38291845
14.
Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years.
Parkinsonism Relat Disord
; 117: 105919, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37948831
15.
Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson's disease: a multicentre, randomised, double-blind, placebo-controlled, phase II trial. The AMBITIOUS study protocol.
BMJ Neurol Open
; 5(2): e000535, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38027469
16.
Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.
Epileptic Disord
; 24(3): 577-582, 2022 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35770758
17.
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome.
Parkinsonism Relat Disord
; 104: 3-6, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36183459
18.
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
Front Physiol
; 12: 775172, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35002760
19.
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.
Clin Epigenetics
; 13(1): 157, 2021 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34380541
20.
Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).
Clin Neurophysiol
; 131(5): 1030-1039, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197126