Detalhe da pesquisa
1.
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Mov Disord
; 39(1): 209-214, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054570
2.
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Hum Mutat
; 43(1): 67-73, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747546
3.
X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity.
Mov Disord
; 36(7): 1511-1525, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960519
4.
Preexisting Bipolar Disorder Influences the Subsequent Phenotype of Parkinson's Disease.
Mov Disord
; 36(12): 2840-2852, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34427338
5.
Awareness of rare and genetic neurological diseases among italian neurologist. A national survey.
Neurol Sci
; 41(6): 1567-1570, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31989346
6.
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.
Am J Hum Genet
; 90(4): 708-14, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22482807
7.
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Hum Mutat
; 34(8): 1075-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23674478
8.
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.
Mov Disord
; 24(4): 613-6, 2009 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19202559
9.
APP-Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes.
Mov Disord Clin Pract
; 7(7): 849-851, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043082
10.
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
Front Genet
; 6: 78, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25815004
11.
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.
Pediatr Neurol
; 50(4): 421-6, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24630287
12.
Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia?
Mov Disord
; 17(5): 1058-63, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12360559
13.
Phenotypic characterization of DYT13 primary torsion dystonia.
Mov Disord
; 19(2): 200-6, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14978677