Detalhe da pesquisa
1.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Ann Neurol
; 94(3): 470-485, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243847
2.
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Mov Disord
; 39(3): 526-538, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38214203
3.
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.
Mov Disord
; 38(4): 654-664, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695111
4.
Prominent White Matter Involvement in Multiple System Atrophy of Cerebellar Type.
Mov Disord
; 35(5): 816-824, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31994808
5.
[Spinal Muscular Atrophy - expert recommendations for the use of nusinersen in adult patients]. / Spinale Muskelatrophie Expertenempfehlungen zur Behandlung von erwachsenen Patienten mit Nusinersen.
Fortschr Neurol Psychiatr
; 87(12): 703-710, 2019 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-31847032
6.
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
Mov Disord
; 38(6): 1109-1112, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37027459
7.
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Ann Neurol
; 79(4): 646-58, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26856398
8.
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Lancet Reg Health Eur
; 39: 100862, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38361750
9.
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
J Neurol
; 271(5): 2787-2797, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409538
10.
[Cervical Dystonia]. / Zervikale Dystonien.
Fortschr Neurol Psychiatr
; 86(6): 368-386, 2018 06.
Artigo
em Alemão
| MEDLINE | ID: mdl-29954019
11.
Tremor is associated with familial clustering of dystonia.
Parkinsonism Relat Disord
; 110: 105400, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086575
12.
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
J Neuromuscul Dis
; 10(1): 29-40, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565133
13.
DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
Mov Disord
; 27(14): 1819-21, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23115116
14.
Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy.
Ann Clin Transl Neurol
; 9(3): 351-362, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191616
15.
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
J Clin Invest
; 118(6): 2157-68, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18451999
16.
Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment.
Ann Clin Transl Neurol
; 8(5): 1049-1063, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33792208
17.
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Front Neurol
; 12: 677551, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34248822
18.
Minocycline 1-year therapy in multiple-system-atrophy: effect on clinical symptoms and [(11)C] (R)-PK11195 PET (MEMSA-trial).
Mov Disord
; 25(1): 97-107, 2010 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20014118
19.
Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry.
Mov Disord
; 25(15): 2604-12, 2010 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20922810
20.
Frequency and risk factors of antibody-induced secondary failure of botulinum neurotoxin therapy.
Neurology
; 94(20): e2109-e2120, 2020 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32332130