Results 161 to 170 of about 643,198 (310)
Background. Herminium monorchis (L.) R. Br. – rare species of the Orchid family, included in the Red Book of Penza region. Monitoring of the cenopopulation of the species on the Olshansky solonetz is necessary to assess the current state and forecast in ...
Yuliya A. Fatyunina +2 more
doaj +1 more source
Low Incidence of Relapses After Vaccination in Anti‐Aquaporin‐4 Antibody‐Positive NMOSD
ABSTRACT Patients with neuromyelitis optica spectrum disorder (NMOSD) may experience increased signs and symptoms of their underlying disease when vaccinated against meningococcal disease before receiving complement component 5 inhibitor therapies. This retrospective analysis indicated an overall low relapse incidence (mean [range], 3.3% [0.7%–10.6 ...
Sean J. Pittock +4 more
wiley +1 more source
Ontogenetic characteristics of local populations of Linum flavum L. (Linaceae) in Penza region
Background. Comparison of ontogenetic indicators of local populations of the yellow flax plant Linum flavum L., rare for the Penza region, was aimed at assessing their current state as the basis for further monitoring and development of measures to ...
Yu.A. Fatyunina +4 more
doaj +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
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
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon +11 more
wiley +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Retention of <i>AnAFP</i> Sequence Variants in <i>Ammopiptanthus nanus</i> Ex Situ Collections with Contrasting Management Histories. [PDF]
Ma L +6 more
europepmc +1 more source
The Case of a 19‐Year‐Old Woman Presenting With Headache and Transient Loss of Consciousness
Annals of Clinical and Translational Neurology, EarlyView.
Yan Lin +7 more
wiley +1 more source

