NSTL国家科技图书文献中心

1. Identical Seeding Characteristics and Cryo-EM Filament Structures in FTLD-Synuclein and Typical Multiple System Atrophy NSTL国家科技图书文献中心

Cullinane, Patrick W... | Yang, Yang ... - 《Neuropathology and applied neurobiology.》 - 2025,51(2) - e70013～e70013 - 共10页

摘要：Aims: The aim of this study is to identify the prevalence of frontotemporal dementia (FTD)/corticobasal syndrome (CBS) in a large cohort of pathologically confirmed cases of multiple system atrophy (M...

关键词： cell-based seeding | cryo-EM | frontotemporal lobar degeneration | multiple system atrophy | alpha-synuclein

2. Progression of atypical parkinsonian syndromes: PROSPECT-M-UK study implications for clinical trials NSTL国家科技图书文献中心

Street, Duncan | Jabbari, Edwin ... - 《Brain: A journal of neurology》 - 2023,146(Pt.8) - 3232～3242 - 共11页 - 被引量：9

摘要：Street et al. compare candidate clinical trial end points in progressive supranuclear palsy, multiple system atrophy, corticobasal syndrome and related disorders. Neuroimaging metrics generally enable...

关键词： progressive supranuclear palsy | corticobasal syndrome | multiple system atrophy | clinical trials | sample size | MULTIPLE SYSTEM ATROPHY | SUPRANUCLEAR PALSY | NATURAL-HISTORY | RATING-SCALE | SURVIVAL...

3. Neurofilament light levels predict clinical progression and death in multiple system atrophy SCIE Web of Science核心 NSTL国家科技图书文献中心

Chelban, Viorica | Nikram, Elham ... - 《Brain: A journal of neurology》 - 2022,145(Pt.12) - 4398～4408 - 共11页 - 被引量：27

摘要：In this large multiple system atrophy cohort, Chelban et al. show that plasma NfL correlates with clinical disease severity, progression and prognosis, and could help inform patient stratification and...

关键词： multiple system atrophy | MSA | NfL | CEREBROSPINAL-FLUID | BLOOD | NEURODEGENERATION | DIAGNOSIS | DIFFERENTIATION | ASSOCIATION | BIOMARKERS...

4. Low Prevalence ofNOTCH2NLCGGCRepeat Expansion in White Patients With Movement Disorders SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Yau, Wai Yan | Vandrovcova, Jana ... - 《Movement disorders》 - 2021,36(1) - 251～255 - 共5页 - 被引量：20

摘要：Background The objective of this study was to determine the prevalence of the GGC-repeat expansion inNOTCH2NLCin whites presenting with movement disorders. Methods We searched for the GGC-repeat expan...

关键词： trinucleotide repeat diseases | spinocerebellar ataxia | Parkinson's disease | tremor | multiple system atrophy

5. A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres SCIE Web of Science核心 SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Gang, Qiang | Bettencourt, Conceic...... - 《Journal of neurology》 - 2020,267(9) - 2705～2712 - 共8页 - 被引量：3

摘要：Objective To identify the genetic cause of complex neuropathy in two siblings from a consanguineous family. Methods The patients were recruited from our clinic. Muscle biopsy and whole-exome sequencin...

关键词： SBF1 | MTMR5 | CMT4B | Necklace fibres

6. An update on MSA: premotor and non-motor features open a window of opportunities for early diagnosis and intervention SCIE Web of Science核心 SCOPUS Scopus数据库 NSTL国家科技图书文献中心

Chelban, Viorica | Catereniuc, Daniela ... - 《Journal of neurology》 - 2020,267(9) - 2754～2770 - 共17页 - 被引量：13

摘要：In this review, we describe the wide clinical spectrum of features that can be seen in multiple system atrophy (MSA) with a focus on the premotor phase and the non-motor symptoms providing an up-to-da...

关键词： Multiple system atrophy | Non-motor features | Premotor phase | MSA

7. Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Keller, Natalie | Mendoza-Ferreira, Na...... - 《Neuromuscular disorders: NMD》 - 2020,30(7) - 583～589 - 共7页 - 被引量：4

摘要：PDXK encodes for a pyridoxal kinase, which converts inactive B6 vitamers to the active cofactor pyridoxal 5'-phosphate (PLP). Recently, biallelic pathogenic variants in PDXK were shown to cause axonal...

关键词： hereditary neuropathy | optic atrophy | pyridoxal kinase | PDXK | pyridoxal phosphate | vitamin B6

8. An update on advances in magnetic resonance imaging of multiple system atrophy NSTL国家科技图书文献中心

Chelban, Viorica | Bocchetta, Martina ... - 《Journal of neurology》 - 2019,266(4) - 1036～1045 - 共10页 - 被引量：34

摘要：In this review, we describe how different neuroimaging tools have been used to identify novel MSA biomarkers, highlighting their advantages and limitations. First, we describe the main structural MRI ...

关键词： Multiple system atrophy | MRI | Imaging | Neurodegeneration

9. Analysis of the prion protein gene in multiple system atrophy NSTL国家科技图书文献中心

Chelban, Viorica | Manole, Andreea ... - 《Neurobiology of Aging: Experimental and Clinical Research》 - 2017,49 - 216～217 - 共2页 - 被引量：3

摘要：Neurodegenerative diseases are a very diverse group of disorders but they share some common mechanisms such as abnormally misfolded proteins with prion-like propagation and aggregation. Creutzfeldt-Ja...

关键词： Multiple system atrophy | PRNP | Prion disease | Prion protein | Sporadic Creutzfeld-Jakob disease

10. Severe axonal neuropathy is a late manifestation of SPG11 SCOPUS Scopus数据库 SCIE Web of Science核心 NSTL国家科技图书文献中心

Manole, Andreea | Chelban, Viorica ... - 《Journal of neurology》 - 2016,263(11) - 2278～2286 - 共9页 - 被引量：5

摘要：Complex hereditary spastic paraplegia (HSP) is a clinically heterogeneous group of disorders usually inherited in an autosomal recessive manner. In the past, complex recessive spastic paraplegias have...