Detalhe da pesquisa
1.
Alzheimer's Disease-Associated SNP rs708727 in SLC41A1 May Increase Risk for Parkinson's Disease: Report from Enlarged Slovak Study.
Int J Mol Sci
; 23(3)2022 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163527
2.
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
Mov Disord
; 36(8): 1959-1964, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33949708
3.
Prevalence of non-motor symptoms and their association with quality of life in cervical dystonia.
Acta Neurol Scand
; 142(6): 613-622, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32579704
4.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Genet Med
; 21(11): 2532-2542, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036918
5.
Central European Group on Genetics of Movement Disorders.
Eur J Neurol
; 31(4): e16165, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38059386
6.
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.
Mov Disord
; 36(8): 1984-1985, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33998058
7.
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Mov Disord
; 31(7): 1041-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27090768
8.
Endoscopic Complications Are More Frequent in Levodopa-Carbidopa Intestinal Gel Treatment via JET-PEG in Parkinson's Disease Patients Compared to Nutritional PEG in Non-Parkinson's Disease Patients.
J Clin Med
; 13(3)2024 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38337398
9.
α-Synuclein antibody 5G4 identifies manifest and prodromal Parkinson's disease in colonic mucosa.
Mov Disord
; 33(8): 1366-1368, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30230627
10.
Prevalence of Fabry Disease among Patients with Parkinson's Disease.
Parkinsons Dis
; 2022: 1014950, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35111290
11.
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
Parkinsonism Relat Disord
; 94: 54-61, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34890876
12.
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
Parkinsonism Relat Disord
; 90: 73-78, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34399161
13.
Comparison in detection of prodromal Parkinson's disease patients using original and updated MDS research criteria in two independent cohorts.
Parkinsonism Relat Disord
; 87: 48-55, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964786
14.
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Parkinsonism Relat Disord
; 84: 129-134, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33611074
15.
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Parkinsonism Relat Disord
; 77: 70-75, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32629324
16.
Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.
Eur J Med Genet
; 63(4): 103821, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31778857
17.
Monogenic variants in dystonia: an exome-wide sequencing study.
Lancet Neurol
; 19(11): 908-918, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098801
18.
Relationship between the MDS-UPDRS and Quality of Life: A large multicenter study of 3206 patients.
Parkinsonism Relat Disord
; 52: 83-89, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625875
19.
The Frequency and Self-perceived Impact on Daily Life of Motor and Non-motor Symptoms in Cervical Dystonia.
Mov Disord Clin Pract
; 4(5): 750-754, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-30363474
20.
Fatigue, Sleep Disturbances, and Their Influence on Quality of Life in Cervical Dystonia Patients.
Mov Disord Clin Pract
; 4(4): 517-523, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-30363425