Multiple system atrophy: pathology, pathogenesis, and path forward
A Ndayisaba, GM Halliday… - Annual Review of …, 2024 - annualreviews.org
Multiple system atrophy (MSA) is a fatal neurodegenerative disease characterized by
autonomic failure and motor impairment. The hallmark pathologic finding in MSA is …
autonomic failure and motor impairment. The hallmark pathologic finding in MSA is …
An update on multiple system atrophy
I Stankovic, M Kuijpers, H Kaufmann - Current Opinion in …, 2024 - journals.lww.com
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Single-cell somatic copy number variants in brain using different amplification methods and reference genomes
E Kalef-Ezra, ZG Turan, D Perez-Rodriguez… - Communications …, 2024 - nature.com
The presence of somatic mutations, including copy number variants (CNVs), in the brain is
well recognized. Comprehensive study requires single-cell whole genome amplification …
well recognized. Comprehensive study requires single-cell whole genome amplification …
Genetic profiles of multiple system atrophy revealed by exome sequencing, long‐read sequencing and spinocerebellar ataxia repeat expansion analysis
XY Li, H Lai, X Li, F Xu, Y Song, Z Wang… - European Journal of …, 2024 - Wiley Online Library
Abstract Background and Purpose Multiple system atrophy (MSA) is a progressive, adult‐
onset neurodegenerative disorder clinically characterized by combinations of autonomic …
onset neurodegenerative disorder clinically characterized by combinations of autonomic …
Single cell long read whole genome sequencing reveals somatic transposon activity in human brain
MB Izydorczyk, E Kalef-Ezra, D Horner, X Zheng… - medRxiv, 2024 - medrxiv.org
The advent of single cell DNA sequencing revealed astonishing dynamics of genomic
variability, but failed at characterizing smaller to mid size variants that on the germline level …
variability, but failed at characterizing smaller to mid size variants that on the germline level …
Demystifying the Etiology of ILOCA in the Genomic Era: A Narrative Review
LE Novis, TYT Silva, JL Pedroso, OGP Barsottini - The Cerebellum, 2025 - Springer
Background Idiopathic Late-Onset Cerebellar Ataxia (ILOCA) is a challenging and
heterogeneous disorder characterized by progressive cerebellar ataxia beginning after the …
heterogeneous disorder characterized by progressive cerebellar ataxia beginning after the …
[HTML][HTML] LMTK2 and CRB1 are two novel risk genes for Alzheimer's disease in Han Chinese
X **ao, H Liu, R Yao, Y Li, X Liao, Y Liu, Y Zhou… - The Journal of …, 2025 - Elsevier
Background Alzheimer's disease (AD) is the most prevalent neurodegenerative disease with
a substantial genetic background. However, its underlying genetic architecture remains to …
a substantial genetic background. However, its underlying genetic architecture remains to …
Multiple system atrophy: advances in pathophysiology, diagnosis, and treatment
Multiple system atrophy is an adult-onset, sporadic, and progressive neurodegenerative
disease. People with this disorder report a wide range of motor and non-motor symptoms …
disease. People with this disorder report a wide range of motor and non-motor symptoms …
Occupational histories in neuropathologically confirmed multiple system atrophy
Purpose This study examined occupational histories in multiple system atrophy to identify
environmental associations of potential relevance to disease causation. Methods A total of …
environmental associations of potential relevance to disease causation. Methods A total of …
Relationships between 25-Hydroxyvitamin D and Alpha-synucleinopathies: A Mendelian Randomization Study
FJ Li, RL Geng, C Wen, KX Huang, DY Lin, ZG Li… - medRxiv, 2024 - medrxiv.org
Abstract Background: Alpha-synucleinopathies, including Parkinson's disease (PD), multiple
system atrophy (MSA), and dementia with Lewy bodies (DLB), are neurodegenerative …
system atrophy (MSA), and dementia with Lewy bodies (DLB), are neurodegenerative …