Results 171 to 180 of about 516,257 (296)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco   +18 more
wiley   +1 more source

Measuring multisubunit mechanics of geometrically programmed colloidal assemblies via cryo-EM multi-body refinement. [PDF]

open access: yesProc Natl Acad Sci U S A
Videbæk TE   +5 more
europepmc   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam   +6 more
wiley   +1 more source

Duality in Mechanics [PDF]

open access: bronze, 1952
P. Le Corbeiller, Ying-Wa Yeung
openalex   +1 more source

Hip morphology‐based osteoarthritis risk prediction models: development and external validation using individual participant data from the World COACH Consortium

open access: yesArthritis Care &Research, Accepted Article.
Objectives This study aims to develop hip morphology‐based radiographic hip osteoarthritis (RHOA) risk prediction models and investigates the added predictive value of hip morphology measurements and the generalizability to different populations. Methods We combined data from nine prospective cohort studies participating in the World COACH consortium ...
Myrthe A. van den Berg   +26 more
wiley   +1 more source

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