Detalhe da pesquisa
1.
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
Brain
; 146(3): 1093-1102, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35472722
2.
Amantadine for NeuroenhaNcement in acutE patients Study - a protocol for a prospective pilot proof of concept phase IIb study in intensive and intermediate care unit patients (ANNES).
BMC Neurol
; 23(1): 308, 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37608315
3.
Dysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia.
J Neuroeng Rehabil
; 20(1): 90, 2023 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454121
4.
[What's behind cerebellar dizziness? - News on diagnosis and therapy]. / Zerebellärer Schwindel, was steckt dahinter?
Laryngorhinootologie
; 2023 Nov 21.
Artigo
em Alemão
| MEDLINE | ID: mdl-37989215
5.
Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study.
Mov Disord
; 37(12): 2417-2426, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054444
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.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
8.
[Correction: What's behind cerebellar dizziness? - Erratum: News on diagnosis and therapy]. / Erratum: Zerebellärer Schwindel, was steckt dahinter?
Laryngorhinootologie
; 103(5): e1, 2024 May.
Artigo
em Alemão
| MEDLINE | ID: mdl-38301709
9.
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Brain
; 140(12): 3112-3127, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29126212
10.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain
; 140(6): 1561-1578, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459997
11.
Cognitive impairment in Glucocerebrosidase (GBA)-associated PD: Not primarily associated with cerebrospinal fluid Abeta and Tau profiles.
Mov Disord
; 32(12): 1780-1783, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29094781
12.
In-vivo evidence that high mobility group box 1 exerts deleterious effects in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model and Parkinson's disease which can be attenuated by glycyrrhizin.
Neurobiol Dis
; 91: 59-68, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26921471
13.
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.
Brain
; 141(1): e2, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236946
14.
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.
Sci Rep
; 14(1): 7335, 2024 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538623
15.
Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4).
Sci Rep
; 12(1): 22075, 2022 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543827
16.
Detection of spinal long fiber tract degeneration in HSP: Improved diffusion tensor imaging.
Neuroimage Clin
; 36: 103213, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270162
17.
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4.
Ann Clin Transl Neurol
; 9(3): 326-338, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35171517
18.
Chromium and cobalt intoxication mimicking mitochondriopathy.
Neurol Res Pract
; 3(1): 40, 2021 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34238384
19.
Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia.
Ann Clin Transl Neurol
; 8(5): 1122-1131, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33819388
20.
PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study.
J Neurol
; 268(4): 1304-1315, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106888