Results 141 to 150 of about 1,700,236 (333)
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin+12 more
wiley +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
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
Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker
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
Hentschel: The Einstein Tower/Bull: Physik mit dem PC/Chawla: Composite Materials. Science and Engineering/Brennan: The Physics of Semiconductors/Huang: Quantum Field Theory. From Operators to Path Integrals/Quang/Pham: Elementary Particles and Their Interactions./Matlab 5.3, Release 11 [PDF]
H. H. Voigt+7 more
openalex +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas+18 more
wiley +1 more source
HISTORY OF THE ENGINEERING PHYSICS AND MATHEMATICS DIVISION 1955-1993 [PDF]
B.F. Maskewitz
openalex +1 more source
Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz+20 more
wiley +1 more source
Objective Social determinants of health (SDoH) can impact outcomes but are not routinely screened for in US outpatient rheumatology clinics. This study determined the feasibility of routine point‐of‐care SDoH screening among patients with systemic lupus erythematosus (SLE) and associated barriers and facilitators at the physician, care team, and ...
S. Sam Lim+11 more
wiley +1 more source