Results 101 to 110 of about 40,635 (255)

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  

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

Multisystem Complications in Spinal Muscular Atrophy Type III: Chronic Respiratory Failure and Intractable Epilepsy. [PDF]

Cureus
Kaufman OR, Ahmad CM, Haberman S, King C.   +3 more
europepmc   +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

Correction: From policy to practice: premarital spinal muscular atrophy screening as a public health initiative in northern Türkiye. [PDF]

Front Public Health
Topcu Yenercag FN, Ozturk S, Kaya Tarhan G.   +2 more
europepmc   +1 more source

Dexmedetomidine infusions improve cardiovascular and renal function in anaesthetised, experimentally endotoxaemic horses

Equine Veterinary Journal, EarlyView.
Abstract Background Dexmedetomidine infusions are beneficial in anaesthetised endotoxaemic horses when administered concurrent to endotoxin, but post‐conditioning effects are unknown. Objectives To evaluate whether a dexmedetomidine infusion is beneficial in horses administered Escherichia coli O55:B5 lipopolysaccharides (LPS) endotoxin prior to ...
Sera Lee, Rachel C. Hector, Lynn Pezzanite, Eric Gilleland, Marlis L. Rezende   +4 more
wiley   +1 more source

Tongue volume in spinal and bulbar muscular atrophy (SBMA): an AI-assisted automatic MRI analysis. [PDF]

J Neurol
Rosenbohm A, Vernikouskaya I, Nosanova A, Nguyen-Younossi N, Haeusler KG, Weishaupt J, Rasche V, Müller HP, Kassubek J.   +8 more
europepmc   +1 more source

Similar locomotor patterns across Quarter Horse disciplines inform lameness assessment

Equine Veterinary Journal, EarlyView.
Abstract Background Lineage‐based selection is central to the Quarter Horse industry and is often justified by the assumption that morphology determines locomotor function. However, objective evidence linking static conformation to discipline‐specific locomotor behaviour under standardised conditions remains limited.
Renata Farinelli de Siqueira, Lavínia Andressa Brito, Isabela Marques de Figueiredo, Ana Clara Rocha dos Santos, Larissa Santos dos Anjos   +4 more
wiley   +1 more source

Implementation of spinal muscular atrophy screening for newborns at a Singapore tertiary hospital

Annals, Academy of Medicine, Singapore
Shreya S Shetty, Janaki Abirami Palaniappan, Wei Cheng David Kuek, Dan Thu Van, Jia Ming Low, Furene Wang, Benedict Yan, Stacey KH Tay, Hui-Lin Chin   +8 more
doaj   +1 more source