Results 191 to 200 of about 121,613 (384)

Subjective Valuation of Screening for Spinal Muscular Atrophy and Analysis of its Influencing Factors: Evidence from Iran [PDF]

Majid Khosravi‎, Aziz Rezapour, Najmeh Moradi, Setare Nassiri Zeidi, Nammam Ali Azadi   +4 more
openalex   +1 more source

Mid1 is associated with androgen-dependent axonal vulnerability of motor neurons in spinal and bulbar muscular atrophy [PDF]

, 2022
Yosuke Ogura, Kentaro Sahashi, Tomoki Hirunagi, Madoka Iida, Takaki Miyata, Masahisa Katsuno   +5 more
openalex   +1 more source

Effects of High‐ and Low‐Fat Meals on the Bioavailability and Pharmacokinetics of Votoplam, a HTT Gene Splicing Modifier

Clinical Pharmacology in Drug Development, EarlyView.
Abstract Votoplam is a novel, orally bioavailable, small molecule HTT gene splicing modifier that is being developed for the treatment of Huntington's disease. This was a single dose, open‐label, two‐period, crossover food effect study that evaluated the effect of high‐ and low‐fat meals on 20 mg votoplam in healthy participants. There was a washout of
Lucy Lee, Amy‐Lee Richards, Nageswara Reddy, Brian Beers, Lee Golden, Ronald Kong   +5 more
wiley   +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

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  

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

Congenital arthrogryposis secondary to spinal muscular atrophy: a case report

Revista de Ciencias Médicas de Pinar del Río, 2018
Introduction: spinal muscular atrophy consists of a degeneration of the anterior antlers of the spinal cord from hereditary causes with Mendelian autosomal recessive pattern leading to progressive muscle weakness of very bad prognosis.
Hernán Pereda Chávez, Ledys Mabel Fernández Hernández, Yesenia Pérez Expósito   +2 more
doaj  

SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy [PDF]

, 2023
Francesca Gabanella, Annalisa Onori, Cinzia Pisani, Marco Fiore, Giampiero Ferraguti, Andrea Colizza, Marco de Vincentiis, Marco Ceccanti, Maurizio Inghilleri, Nicoletta Corbi, Claudio Passananti, Maria Grazia Di Certo   +11 more
openalex   +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, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +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