Detalhe da pesquisa
1.
Care of Late-Stage Parkinsonism: Resource Utilization of the Disease in Five European Countries.
Mov Disord
; 39(3): 571-584, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38425158
2.
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
J Med Genet
; 60(7): 717-721, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599645
3.
[Improvement of the treatment of patients with spastic movement disorder after stroke]. / Verbesserung der Versorgung von Patientinnen und Patienten mit spastischer Bewegungsstörung nach Schlaganfall.
Nervenarzt
; 95(2): 133-140, 2024 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-37987799
4.
Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report.
J Clin Immunol
; 43(7): 1597-1602, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37306896
5.
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Genet Med
; 25(2): 100327, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36422518
6.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord
; 37(6): 1175-1186, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150594
7.
Blood-based biomarker in Parkinson's disease: potential for future applications in clinical research and practice.
J Neural Transm (Vienna)
; 129(9): 1201-1217, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35428925
8.
ADHD-associated PARK2 copy number variants: A pilot study on gene expression and effects of supplementary deprivation in patient-derived cell lines.
Am J Med Genet B Neuropsychiatr Genet
; 189(7-8): 257-270, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971782
9.
[Deep brain stimulation in neurological and psychiatric diseases]. / Tiefe Hirnstimulation bei neurologischen und psychiatrischen Erkrankungen.
Nervenarzt
; 92(10): 1042-1051, 2021 Oct.
Artigo
em Alemão
| MEDLINE | ID: mdl-33630100
10.
[New Therapeutic Options for the Individualised Titration of Levodopa]. / Neue Therapieoption zur individualisierten Titration von Levodopa.
Fortschr Neurol Psychiatr
; 89(1-02): 23-28, 2021 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-32462651
11.
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Genet Med
; 22(11): 1851-1862, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32713943
12.
Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.
J Peripher Nerv Syst
; 25(2): 112-116, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32077159
13.
[Genetic testing for Parkinson's disease: indication and practical implementation]. / Genetische Untersuchungen beim Parkinson-Syndrom: Indikation und praktische Durchführung.
Fortschr Neurol Psychiatr
; 88(9): 601-608, 2020 Sep.
Artigo
em Alemão
| MEDLINE | ID: mdl-32594506
14.
Examining the Reserve Hypothesis in Parkinson's Disease: A Longitudinal Study.
Mov Disord
; 34(11): 1663-1671, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31518456
15.
Management of delirium in Parkinson's disease.
J Neural Transm (Vienna)
; 126(7): 905-912, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30725186
16.
[Genetics of movement disorders-rare but important]. / Genetik von Bewegungsstörungen selten aber wichtig.
Nervenarzt
; 90(2): 197-210, 2019 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-30645659
17.
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
J Neurol Neurosurg Psychiatry
; 89(8): 817-827, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29650794
18.
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Ann Neurol
; 79(4): 646-58, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26856398
19.
Dermal phospho-alpha-synuclein deposits confirm REM sleep behaviour disorder as prodromal Parkinson's disease.
Acta Neuropathol
; 133(4): 535-545, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28180961
20.
Genome-wide association study in essential tremor identifies three new loci.
Brain
; 139(Pt 12): 3163-3169, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27797806