Detalhe da pesquisa
1.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
N Engl J Med
; 388(2): 128-141, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36516086
2.
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Ann Neurol
; 95(2): 400-406, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962377
3.
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
J Neurol Neurosurg Psychiatry
; 95(2): 175-179, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37399286
4.
NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.
J Neurol Neurosurg Psychiatry
; 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38253362
5.
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Brain
; 146(10): 4144-4157, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165652
6.
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.
Ann Neurol
; 91(1): 33-47, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34743360
7.
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
8.
Neurofilament light levels predict clinical progression and death in multiple system atrophy.
Brain
; 145(12): 4398-4408, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35903017
9.
A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia.
Brain
; 145(5): 1805-1817, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633446
10.
Utility of the Repeat and Point Test for Subtyping Patients With Primary Progressive Aphasia.
Alzheimer Dis Assoc Disord
; 36(1): 44-51, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35001030
11.
Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4.
Int J Mol Sci
; 23(21)2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36362248
12.
Intraindividual Neurofilament Dynamics in Serum Mark the Conversion to Sporadic Parkinson's Disease.
Mov Disord
; 35(7): 1233-1238, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338403
13.
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Acta Neuropathol
; 137(6): 879-899, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739198
14.
Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia.
J Neurol Neurosurg Psychiatry
; 90(9): 997-1004, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123142
15.
Correlations between serum and CSF pNfH levels in ALS, FTD and controls: a comparison of three analytical approaches.
Clin Chem Lab Med
; 57(10): 1556-1564, 2019 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31251725
16.
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Genet Med
; 20(2): 240-249, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28749476
17.
As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort.
Mov Disord
; 38(8): 1557-1558, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528564
18.
Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration.
Brain
; 145(3): e6-e9, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35230382
19.
Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia.
Neurodegener Dis
; 17(2-3): 83-88, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27760429
20.
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
EBioMedicine
; 102: 105076, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38507876