Results 71 to 80 of about 16,650 (226)

New Aspects of 2-Adrenergic Agonists

Journal of Bahria University Medical and Dental College, 2015
Beta2-adrenergic receptor agonists is a class of medications that act on the 2-adrenergic receptors. They are mostly used to treat asthma and other respiratory problems at present.
Touseef Sayyar
doaj  

2578 Repetitive compound muscle action potential: a diagnostic clue in congenital myasthenic syndromes [PDF]

, 2023
Shadi El‐Wahsh, Aicee Dawn Calma, Katrina Morris, Lisa Worgan, Alastair Corbett, James Triplett   +5 more
openalex   +1 more source

Sustained Response of Ibrutinib in a Patient with Waldenstrom Macroglobulinemia Presenting with Myasthenic Crisis as a Paraneoplastic Neurological Syndrome: A Case Report and Review of Literature

Acta Medica Indonesiana
Paraneoplastic syndrome is a broad spectrum of signs and symptoms due to neoplasm, attributed to substances produced by tumor cells, or in response to it.
Anna Mira Lubis, Fitri Octaviana, Gabriella Anindyah, Agnes Stephanie Harahap   +3 more
doaj   +2 more sources

De Novo CHRNE Mutation: Congenital Myasthenic Syndrome

Journal of Pediatric Research, 2019
Congenital myasthenic syndromes (CMS) are neuromuscular hereditary diseases with the symptoms of fatigue, weakness, ptosis, ophthalmoparesis and respiratory problems.
Hande Gazeteci Tekin, Sanem Yılmaz, Gül Aktan, Sarenur Gökben   +3 more
doaj   +1 more source

A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation

Neurobiology of Disease, 2012
We have generated a new mouse model for congenital myasthenic syndromes by inserting the missense mutation L221F into the ε subunit of the acetylcholine receptor by homologous recombination.
Frédéric Chevessier, Christoph Peter, Ulrike Mersdorf, Emmanuelle Girard, Eric Krejci, Joseph J. McArdle, Veit Witzemann   +6 more
doaj   +1 more source

LRP4‐Related Lethal Syndromic Form of Syndactyly in Limousin Cattle

Animal Genetics, Volume 57, Issue 2, April 2026.
Joana Jacinto, Jessica Gearing, Aurélien Capitan, Ana‐Maria Zorlescu, Arthur Otter, Cord Drögemüller   +5 more
wiley   +1 more source

SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review

Heliyon
SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of ...
Tina Yee-Ching Chan, Ling-Yin Hung, Tiffany Yan-Lok Lam, Bun Sheng, Frank Ying-Kit Leung, Hencher Han-Chih Lee   +5 more
doaj   +1 more source

Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation

Pharmacogenomics and Personalized Medicine, 2023
Lan Jiang,1 Sheng-Cai Wang,2 Jie Zhang,2 Fu-Gen Han,1 Jing Zhao,2 Ying Xu1 1Department of Otorhinolaryngology Head and Neck Surgery, Children’s Hospital Affiliated to Zhengzhou University; Henan Children’s Hospital; Zhengzhou Children’s Hospital ...
Jiang L, Wang SC, Zhang J, Han FG, Zhao J, Xu Y   +5 more
doaj  

Congenital Lambert-Eaton myasthenic syndrome. [PDF]

, 1987
B Bady, G Chauplannaz, Howard Carrier
openalex   +1 more source

Hidden diagnoses among patients with double seronegative myasthenia gravis

Frontiers in Neurology
IntroductionDouble seronegative myasthenia gravis (dSnMG) is defined as myasthenia gravis (MG) without detectable antibodies to acetylcholine receptor (AChR) and muscle-specific kinase (MuSK).
Vukan Ivanovic, Stojan Peric, Stojan Peric, Caitlin Briggs, Ana Marjanovic, Jovan Pesovic, Ivana Basta, Ivana Basta, Johan Jansson, Simrat Randhawa, Sonja Rajic, Sankalp Gokhale   +11 more
doaj   +1 more source