Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.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
Comparison of memory writing style in patients with disorders, schizophrenia,schizoaffective and bipolar mood [PDF]
Introduction: Mental disorders difficultly are detected because not associated with physical defects. When disorders have signs and symptoms are very similar, the problem is much. The main goal of this study was survey of comparison of memory writing
شیخ اکبری, فرشاد +4 more
core
The Effect of miR-1273d Between Chronic Childhood Stress and Positive Symptoms in Schizophrenia: A Preliminary Mediation Analysis. [PDF]
Neuropsychiatr Dis TreatKong L, Zheng J, Qiang L, Chen S.
europepmc +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.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
Disruption of consciousness depends on insight in obsessive-compulsive disorder and on positive symptoms in schizophrenia. [PDF]
Neurosci ConsciousTumkaya S +4 more
europepmc +1 more source
Multimodal brain deficits shared in early-onset and adult-onset schizophrenia predict positive symptoms regardless of illness stage. [PDF]
Hum Brain Mapp, 2022 Feng A +11 more
europepmc +1 more source
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants
Annals of Clinical and Translational Neurology, EarlyView.Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold +12 more
wiley +1 more source
Enhanced theta oscillations in the left temporoparietal region associated with refractory positive symptoms in schizophrenia. [PDF]
Schizophrenia (Heidelb)Wang X +8 more
europepmc +1 more source
Increased Markers of Oxidative Stress and Positive Correlation Low-Grade Inflammation with Positive Symptoms in the First Episode of Schizophrenia in Drug-Naïve Patients. [PDF]
J Clin Med, 2022 Dudzińska E +6 more
europepmc +1 more source