Results 121 to 130 of about 45,526 (300)

Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. [PDF]

, 1991
Z Borochowitz, Bruce Glick, S Blazer
openalex   +1 more source

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

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, Wenzhen Zhu, Tingting Guo, Yiran Zhang, Tingting Xing, Peng Yin, Shihua Li, Xiao-Jiang Li, Su Yang   +8 more
doaj   +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, Veronica S. Grybas, Devyn Hoopfer, Casey Higginson, Elizabeth A. Ainsbury, Omid Azimzadeh, Afshin Beheshti, Steve Blattnig, Marjan Boerma, Sylvain V. Costes, Stephen Doty, Christelle Adam‐Guillermin, Nobuyuki Hamada, Patricia Hinton, Janice L. Huff, Robert Reynolds, Ruth C. Wilkins, Scott Wood, Carole L. Yauk   +18 more
wiley   +1 more source

THE BENIGN PROXIMAL SPINAL PROGRESSIVE MUSCULAR ATROPHIES

, 1968
Henry A. Peters, John M. Opitz, I Goto, Hans H. Reese   +3 more
openalex   +1 more source

Inheritance of Bovine Spinal Muscular Atrophy [PDF]

, 1990
Jared S. Nielsen, E. Andresen, A. Basse, L.G. Christensen, Τ. Lykke, U. Nielsen   +5 more
openalex   +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, Jeong‐Mi Do, Ho‐Seong Suh, Yu‐Hee Seo, Su‐Bin Park, Ho‐Sung Yoon   +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, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +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, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Proximal spinal muscular atrophy: current orthopedic perspective

The Application of Clinical Genetics, 2013
Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is ...
Haaker G, Fujak A
doaj