Results 231 to 240 of about 2,144,056 (301)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals 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

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

open access: yesAnnals 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

Multi blockchain architecture for judicial case management using smart contracts. [PDF]

open access: yesSci Rep
Alyas T   +7 more
europepmc   +1 more source

Health system effectiveness of symptomatic malaria case management in Papua New Guinea. [PDF]

open access: yesBMJ Glob Health
Minconetti V   +14 more
europepmc   +1 more source

Integrating Case Management in Cystic Fibrosis Units: A Key to Enhancing Patient-Centered Care. [PDF]

open access: yesHealthcare (Basel)
Russo Krauss A   +8 more
europepmc   +1 more source

Communication, Coordination, and Security for People With Multiple Sclerosis (COCOS-MS): A Randomized, Phase II Trial of Cross-sectoral Care and Case Management. [PDF]

open access: yesDtsch Arztebl Int
Golla H   +15 more
europepmc   +1 more source

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