Multiple System Atrophy
What's New
Last Posted: Nov 10, 2024
- Biomarkers for cognitive impairment in alpha-synucleinopathies: an overview of systematic reviews and meta-analyses.
Elisa Mantovani, et al. NPJ Parkinson's disease 2024 0 (1) 211 - Clonal hematopoiesis with DNMT3A mutations is associated with multiple system atrophy.
Seungmin Lee, et al. Parkinsonism & related disorders 2024 0 107145 - Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Xu-Ying Li, et al. European journal of neurology 2024 0 e16441 - Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Kenta Orimo, et al. Journal of human genetics 2024 0 - Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease.
Annalisa Schaub, et al. Journal of neurology 2024 0 - Genome sequence analyses identify novel risk loci for multiple system atrophy.
Ruth Chia, et al. Neuron 2024 0 - Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis.
Yufen Peng, et al. Open life sciences 2023 0 (1) 20220762 - Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation.
Tommaso Carrer, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 0 - The molecular spectrum of amyloid-beta (A?) in neurodegenerative diseases beyond Alzheimer's disease.
Shojiro Ichimata, et al. Brain pathology (Zurich, Switzerland) 2023 0 e13210 - Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.
Yasuo Nakahara, et al. medRxiv : the preprint server for health sciences 2023 0
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: