Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals 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
The LHCb Stripping Project: Sustainable Legacy Data Processing for High-Energy Physics. [PDF]
Comput Softw Big SciGrieser NA +5 more
europepmc +1 more source
Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker
Annals 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
Urban-resolved scales amplifies torrential rainfall in coastal megacities. [PDF]
Sci RepTeja KR, Bale R, Gupta A.
europepmc +1 more source
Retracted: Performance of Water-Based Liquid Scintillator: An Independent Analysis
Advances in High Energy Physics, 2015 Advances in High Energy Physics
doaj +1 more source
Rt 99 - Eleventh Conference on Real-Time Computer Applications in Nuclear, Particle, and Plasma Physics [PDF]
, 2000 openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini +13 more
wiley +1 more source
Supporting medical physics resident development through mentored journal peer review experiences. [PDF]
J Appl Clin Med PhysFagerstrom JM.
europepmc +1 more source
IS PHYSICS FUNDAMENTAL? ROBERT RUSSELL ON DIVINE ACTION
, 2010 John F. Haught
openalex +1 more source
Solid state physics of impact crater formation: further considerations [PDF]
, 2013 V. Čelebonović
openalex +1 more source