Results 91 to 100 of about 461,814 (280)

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease

Journal of Tissue Engineering
Peripheral neuropathies are disorders affecting the peripheral nervous system. Among them, Charcot-Marie-Tooth disease is an inherited sensorimotor neuropathy for which no effective treatment exists yet.
Camille Scherrer, Camille Loret, Nicolas Védrenne, Colman Buckley, Anne-Sophie Lia, Vincent Kermene, Franck Sturtz, Frédéric Favreau, Amandine Rovini, Pierre-Antoine Faye   +9 more
doaj   +1 more source

Astrocyte SMN Restoration and Forskolin Treatment Improve SMA Synaptic Pathology

Annals of Neurology, EarlyView.
Objective Early phenotypic presentation of central afferent synapse dysfunction within patients with spinal muscular atrophy (SMA) represents a key target for therapeutic development; however, the underlying disease mechanisms remain unresolved. By further investigating motor neuron synapse and peri‐synaptic astrocyte process (PAP) defects in human SMA
Emily Welby, Xiaojie Liu, Melinda Wojtkiewicz, Linda Berg Luecke, Rebekah L. Gundry, Qing‐Song Liu, Allison D. Ebert   +6 more
wiley   +1 more source

"THE EFFECTS OF ANODAL IONTOPHORESIS OF EPINEPHRINE ON NEUROMUSCULAR RESPONSES IN HEALTHY MEN AND PATIENTS WITH MYASTHENIA GRAVIS " [PDF]

Acta Medica Iranica, 2005
Iontophoresis of epinephrine for assessment of neuromuscular junction response is a new technique that can improve diagnose of neuromuscular dysfunction.
S. Talebian, R. Abolfazli, G. R. Olyaei S. Hajizadeh   +2 more
doaj   +2 more sources

The influence of growth factors on neuromuscular junction regeneration

, 1997
Peripheral motor nerve injury frequently results in significant morbidity even after repair employing micro-surgical techniques. Following such an injury the trophic effect of the motor nerve is lost, leading to degeneration of the neuromuscular ...
Timothy James. Woolford (7683224)
core   +4 more sources

Human evolution and the obstetrical dilemma: The pelvic floor hypothesis

The Anatomical Record, EarlyView.
Abstract Human childbirth is mechanically difficult because a large‐headed, broad‐shouldered fetus must pass through a comparatively narrow, twisted bony birth canal. Traditional explanations of this “obstetrical dilemma” emphasize the role of bipedal locomotion in inhibiting the evolution of a wider, more spacious pelvis.
Barbara Fischer, Ekaterina Stansfield
wiley   +1 more source

Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A review

Taiwanese Journal of Obstetrics & Gynecology, 2012
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma ...
Chih-Ping Chen
doaj   +1 more source

Cable Reinforcement Combined With Biologic Tuberoplasty Restores Muscle Forces and Scapular Strain in an Irreparable Rotator Cuff Tear Model: A Cadaveric Study

Arthroscopy, EarlyView.
Purpose To investigate the biomechanical impact of an irreparable rotator cuff tear and compare the isolated and combined effects of rotator cable reconstruction (CR) and biologic tuberoplasty (BioTB). Methods Eight cadaveric shoulders were tested using an ex vivo dynamic shoulder simulator in forward flexion (FF) and scapular plane abduction (SPA ...
Mohammad Haddara, Natalie Guggenbach, Kevin Sun, Maria Antonia Rosanna Pena, Justine Fleurette, Janos Tomka, Desmond Bokor, Manik Dham, Christopher Adams, Richard Appleyard, Sumit Raniga   +10 more
wiley   +1 more source

Dropped head syndrome due to neuromuscular disease: clinical manifestation and evaluation

Neurology International, 2019
In this article, we discuss the clinical approach to patients with dropped head syndrome and identify the various neuromuscular causes of dropped head syndrome, including muscle, neuromuscular junction, peripheral nerve, and motor neuron etiologies.
Ahmet Burakgazi, Perry Richardson, Mohammad Abu-Rub   +2 more
doaj   +1 more source

Agrin promotes acetylcholine receptor clustering at the mammalian neuro-muscular junction by PI3K/GSK3ß²-mediated regulation of +TIPs and microtubule capture [PDF]

, 2013
Neurotransmission an der neuromuskulären Endplatte von Säugetieren erfolgt durch Ausschüttung von Acetylcholin (ACh) aus motorischen Nerven in den synaptischen Spalt und verursacht letztendlich Muskelkontraktion im angesteuerten Muskel.
Sladecek, Stefan
core   +1 more source