Results 61 to 70 of about 666,453 (371)

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Effect of intravenous anesthetic propofol on synaptic vesicle exocytosis at the frog neuromuscular junction [PDF]

, 2014
Aim: To investigate the presynaptic effects of propofol, a short-acting intravenous anesthetic, in the frog neuromuscular junction. Methods: Frog cutaneous pectoris nerve muscle preparations were prepared.
Fonseca, Matheus de Castro, Gomez, Marcus Vinicius, Gomez, Renato Santiago, Guatimosim, Cristina, Leite, Luciana Ferreira   +4 more
core   +1 more source

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

International Journal of Molecular Sciences, 2018
Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired neuromuscular transmission. This review provides an overview on CMS and highlights recent advances in the field, including novel CMS causative genes and improved ...
P. M. Rodríguez Cruz, Jacqueline A Palace, D. Beeson   +2 more
semanticscholar   +1 more source

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source

Neurohormonal modulation of the Limulus heart: amine actions on neuromuscular transmission and cardiac muscle [PDF]

, 1985
The responses of Limulus cardiac neuromuscular junctions and cardiac muscle cells to four endogenous amines were determined in order to identify the cellular targets underlying amine modulation of heartbeat amplitude.
Augustine, George J., Colburne, J., Hoshi, T., Watson, Winsor H., III   +3 more
core   +1 more source

Facilitatory actions of guanidine on synaptic transmission in mammalian brain slices [PDF]

, 1979
Guanidine administration may be beneficial in the treatment of amyotrophic lateral sclerosis and related diseases; however, the actions of guanidine on the mammalian central nervous system have not been investigated.
Galvan, Martin, Grafe, Peter, Ten Bruggencate, Gerrit   +2 more
core   +1 more source

Therapeutics Targeting Skeletal Muscle in Amyotrophic Lateral Sclerosis

Biomolecules
Amyotrophic lateral sclerosis (ALS) is a complex neuromuscular disease characterized by progressive motor neuron degeneration, neuromuscular junction dismantling, and muscle wasting.
Jinghui Gao, Elijah Sterling, Rachel Hankin, Aria Sikal, Yao Yao   +4 more
doaj   +1 more source

Neuromuscular Junction Dismantling in Amyotrophic Lateral Sclerosis

International Journal of Molecular Sciences, 2017
Neuromuscular junction assembly and plasticity during embryonic, postnatal, and adult life are tightly regulated by the continuous cross-talk among motor nerve endings, muscle fibers, and glial cells.
V. Cappello, M. Francolini
semanticscholar   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source