Results 231 to 240 of about 1,170,551 (362)

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini   +24 more
wiley   +1 more source

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano   +15 more
wiley   +1 more source

Priority Musculoskeletal Health Research Questions for People With Generalized Joint Hypermobility: An International Delphi Study

open access: yesArthritis Care &Research, EarlyView.
Objective This study aimed to identify the top 10 international research priorities for musculoskeletal health of people with generalized joint hypermobility. Methods A three‐round Delphi method using an online survey was implemented. Three participant stakeholder groups were eligible for inclusion: (1) people with lived experience of joint ...
Sara Habibian   +4 more
wiley   +1 more source

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