SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Investigating the closure stress and crack initiation stress in fractured rocks using the student t distribution and Monte Carlo simulation method. [PDF]
PLoS OneLin H, Qiang Y, Li L, Li H, Liang S.
europepmc +1 more source
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan +9 more
wiley +1 more source
An In Situ Study of Short Crack Initiation and Propagation During Fatigue Testing of a Hot Isostatically Pressed Al-7%Si-0.5%Mg (A357-T6) Alloy Specimen. [PDF]
Materials (Basel)Bogdanoff T, Tiryakioğlu M.
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Collaterals are crucial factors that influence the infarct growth rate (IGR). We aimed to determine whether a comprehensive multimodal collateral score (MCS), incorporating collateral assessment at the arterial, tissue, and venous levels, is associated with functional independence and provides incremental prognostic value over ...
Giorgio Busto +12 more
wiley +1 more source
Analysis of Micro-Evolution Mechanism of 3D Crack Initiation in Brittle Materials with Hole under Uniaxial Compression. [PDF]
Materials (Basel)Maimaitiyusupu S +4 more
europepmc +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Study of Fatigue Crack Initiation and the Propagation Mechanism Induced by Pores in a Powder Metallurgy Nickel-Based FGH96 Superalloy. [PDF]
Materials (Basel)Yi S +5 more
europepmc +1 more source
Effect of the Shape of Styrene-Acrylonitrile Water-Filter Housings on the Destructive Pressure, Crack-Initiation, Propagation Conditions and Fracture Toughness of Styrene-Acrylonitrile. [PDF]
Polymers (Basel), 2020 Zorc B, Zorc M, Kosec B, Nagode A.
europepmc +1 more source
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source