Results 131 to 140 of about 45,526 (300)
A predominantly cervical form of spinal muscular atrophy. [PDF]
, 1992 Kalbiye Yalaz +4 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 +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
Molecular diagnosis of spinal muscular atrophy [PDF]
, 1998 Helen Stewart +4 more
openalex +1 more source
Fuel for Recovery: Predicting G‐Tube Dependence in HPV‐Negative Operable HNSCC
Head &Neck, EarlyView.ABSTRACT Background HPV‐negative head and neck squamous cell carcinoma (HNSCC) patients can face prolonged gastrostomy tube (g‐tube) dependence, affecting quality of life and delaying treatment. Existing models lack key health metrics like sarcopenia; this study develops a risk model to enhance preoperative assessment.
Marie‐Michelle McNicoll +11 more
wiley +1 more source
Two cases of Lumbar spinal canal stenosis with severe muscular atrophy of the legs
, 1977 Akio Matsuzaki +4 more
openalex +2 more sources
Research progress of neurovascular units involved in ischemic stroke
Ibrain, EarlyView.The brain receives less blood when an ischemic stroke develops, which damages neurons and leads to an increased release of Pro‐inflammatory mediators that activate neurovascular unit (NVU). When the tight junctions are broken and the basement membrane is disrupted by matrix metalloproteinases produced by active endothelial and pericellular cells ...
Yu Yang +4 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 +2 more
doaj
Developing the FIGO‐IPPS “R U MOVVING SOMe” classification system for female chronic pelvic pain
International Journal of Gynecology &Obstetrics, EarlyView.Abstract The goal was to develop a pragmatic classification system for conditions associated with chronic pelvic pain (CPP), aiming to enhance diagnosis, management, education, and research of CPP. An international, multidisciplinary panel participated in a modified RAND/UCLA Delphi consensus.
Georgine Lamvu +8 more
wiley +1 more source
New insights into applications of base editor in hereditary disorders
Interdisciplinary Medicine, EarlyView.Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source