Results 211 to 220 of about 120,291 (395)
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
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
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
Pyramidal signs in a Caucasian patient with spinal muscular atrophy: a case report [PDF]
, 2016 Y L Wan, Jun Zhang
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
Adjuvant pharmacological strategies for the musculoskeletal system during long‐term space missions
British Journal of Clinical Pharmacology, EarlyView., 2023 Abstract Despite 2 h of daily exercise training, muscle wasting and bone loss are still present after 6‐month missions to the international space station. Some crew members lose bone much faster than others. In preparation for missions to the Moon and Mars, space agencies are therefore reviewing their countermeasure portfolios.
Friederike Thomasius +2 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
Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Italy [PDF]
Gianni Ghetti +5 more
openalex +1 more source