Detalhe da pesquisa
1.
Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort.
J Neurol Neurosurg Psychiatry
; 95(4): 309-315, 2024 Mar 13.
Artigo
Inglês
| MEDLINE | ID: mdl-37879897
2.
Functional Study of SNCA p.V15A Variant: Further Linking α-Synuclein and Glucocerebrosidase.
Mov Disord
; 2024 Mar 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38436488
3.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36788019
4.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37185710
5.
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Mov Disord
; 38(12): 2241-2248, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37750340
6.
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Mov Disord
; 37(9): 1938-1943, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35792653
7.
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype.
Int J Mol Sci
; 22(8)2021 Apr 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33918046
8.
GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.
Mov Disord
; 35(11): 2106-2111, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32658388
9.
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
Parkinsonism Relat Disord
; 123: 106943, 2024 Mar 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38555792
10.
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
Front Neurol
; 15: 1284459, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38356886
11.
Motor and non-motor features in Parkinson's Disease patients carrying GBA gene mutations.
Acta Neurol Belg
; 123(1): 221-226, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36609835
12.
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
Inglês
| MEDLINE | ID: mdl-38027469
13.
The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Front Neurol
; 13: 841394, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35273561
14.
Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer's Disease and Lewy Body Dementia.
Biomedicines
; 10(7)2022 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-35884993
15.
Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p.D90A - SOD1 Mutation.
Front Neurol
; 12: 708885, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34659083
16.
Benign Hereditary Chorea as a Manifestation of HPCA Mutation.
Mov Disord Clin Pract
; 10(1): 130-134, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36704070
17.
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome.
J Clin Med
; 8(1)2018 Dec 22.
Artigo
Inglês
| MEDLINE | ID: mdl-30583522