Muscular atrophy, spinal - Open Access .click

Results 131 to 140 of about 71,497 (297)

A perspective review of applications of the computed tomography (CT) scan imaging technique for microscopic reservoir rock characterization

Deep Underground Science and Engineering, EarlyView.
In this review, the application of micro‐CT and medical‐CT scanning in the oil and gas industry has been thoroughly discussed. Recent improvements in DRP and modern imaging techniques in the oil and gas industry have been modeled using both experimental and simulation work.
Achinta Bera, Bharadwaj Shukla, Dhruvikkumar Jogani +2 more
wiley +1 more source

Identification and characterization of a spinal muscular atrophy-determining gene

Cell, 1995
S. Lefebvre +15 more
semanticscholar +1 more source

Adverse Outcome Pathways Applied to Space Radiation Research

Environmental and Molecular Mutagenesis, EarlyView.
ABSTRACT Long‐duration spaceflight exposes astronauts to various stressors that can alter human physiology, potentially causing immediate and long‐term health effects. These stressors can damage biomolecules, cells, tissues, and organs, leading to adverse outcomes.
Vinita Chauhan +18 more
wiley +1 more source

Biochemical characteristics and applications of microalga Chlorella sorokiniana KNUA228 isolated from Ulleungdo

Environmental Progress &Sustainable Energy, EarlyView.
Abstract The increasing environmental and health challenges posed by fossil fuel dependency necessitate the exploration of renewable bioresources. Chlorella sorokiniana KNUA228, a microalga isolated from Ulleungdo, Republic of Korea, was investigated to evaluate its biotechnological potential. Molecular analyses confirmed its identity as C. sorokiniana,
Jin‐Won Lee +5 more
wiley +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, EarlyView.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor +7 more
wiley +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source

Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology

Neural Regeneration Research
Spinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene, which encodes a ligand-dependent transcription factor.
Yiyang Qin +8 more
doaj +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source

Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy

New England Journal of Medicine, 2017
R. Finkel +397 more
semanticscholar +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley +1 more source

3. good health
child
animals

infant
nusinersen
child, preschool

motor neurons
infant, newborn
spinal muscular atrophies of childhood