Results 51 to 60 of about 198,800 (341)

miR-146a in Myasthenia Gravis Thymus Bridges Innate Immunity With Autoimmunity and Is Linked to Therapeutic Effects of Corticosteroids

Frontiers in Immunology, 2020
Toll-like receptor (TLR)-mediated innate immune responses are critically involved in the pathogenesis of myasthenia gravis (MG), an autoimmune disorder affecting neuromuscular junction mainly mediated by antiacetylcholine receptor antibodies ...
Federica Bortone, Letizia Scandiffio, Stefania Marcuzzo, Silvia Bonanno, Rita Frangiamore, Teresio Motta, Carlo Antozzi, Renato Mantegazza, Paola Cavalcante, Pia Bernasconi   +9 more
doaj   +1 more source

PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders

Muscles
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive ...
Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira   +18 more
doaj   +1 more source

NMJ-Analyser identifies subtle early changes in mouse models of neuromuscular disease

Scientific Reports, 2021
The neuromuscular junction (NMJ) is the peripheral synapse formed between a motor neuron axon terminal and a muscle fibre. NMJs are thought to be the primary site of peripheral pathology in many neuromuscular diseases, but innervation/denervation status ...
Alan Mejia Maza, Seth Jarvis, Weaverly Colleen Lee, Thomas J. Cunningham, Giampietro Schiavo, Maria Secrier, Pietro Fratta, James N. Sleigh, Elizabeth M. C. Fisher, Carole H. Sudre   +9 more
doaj   +1 more source

Flow cytofluorimetric analysis of anti-LRP4 (LDL receptor-related protein 4) autoantibodies in Italian patients with Myasthenia gravis [PDF]

, 2015
Background: Myasthenia gravis (MG) is an autoimmune disease in which 90% of patients have autoanti-bodies against the muscle nicotinic acetylcholine receptor (AChR), while autoantibodies to muscle-specific tyrosine kinase (MuSK) have been detected in ...
Antonini, Giovanni, Bartoccioni, Emanuela, Evoli, Amelia, Maiuri, Maria Teresa, Marino, Mariapaola, Mei, Lin, Pani, Giovambattista, Sabatelli, Mario, SALTELLI, GIORGIA, Samengo, Daniela, Scuderi, Flavia, Shen, Chengyong   +11 more
core   +3 more sources

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, EarlyView.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

Anxiety, Depression, and Expanded Disability Status Scale Independently Predict the Perception of Disability in Persons With Multiple Sclerosis: A Cross-Sectional Study

Behavioural Neurology
Multiple sclerosis (MS) is the most common cause of disability in young adults due to several motor, sensory, and cognitive symptoms. However, little is still known about the impact of psychological, cognitive, and social-support variables on subjective ...
Chiara Curatoli, Alessia Marcassoli, Filippo Barbadoro, Arianna Fornari, Matilde Leonardi, Alberto Raggi, Silvia Schiavolin, Rachele Terragni, Carlo Antozzi, Laura Brambilla, Valentina Torri Clerici, Paolo Confalonieri, Renato Mantegazza, Martina Lanza   +13 more
doaj   +1 more source

A case of motor neuron involvement in Gaucher disease

Molecular Genetics and Metabolism Reports, 2019
Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive ...
V. Pozzilli, F. Giona, M. Ceccanti, C. Cambieri, V. Frasca, E. Onesti, L. Libonati, S. Di Bari, I. Fiorini, L. Cardarelli, M. Santopietro, M. Inghilleri   +11 more
doaj   +1 more source

Cystic Ovarian Teratoma: Clinical and Radiographic Insights Into Chronic Pelvic Pain

Aging and Cancer, EarlyView.
An incidental benign mature cystic ovarian teratoma on imaging and discuss common imaging modalities. ABSTRACT In this case report, we present the clinical course of an 88‐year‐old woman with chronic pelvic pain attributed to an incidental benign mature cystic ovarian teratoma on imaging and discuss common imaging modalities and discussions with ...
Hashim U. Ali, Fahad H. Malik, Mohammad M. Zia, Ashar Ahmed, Mahfujul Z. Haque, Masood Siddiqui   +5 more
wiley   +1 more source

Assessing the Safety and Efficacy of Lamotrigine as Anti-myotonic Agent in Myotonic Dystrophy Type 1 (DM1): A Longitudinal, Open-Label, Pilot Study

Neurology and Therapy
Introduction Myotonia, defined as impaired relaxation of skeletal muscles after voluntary contraction or electrical stimulation, is a core feature of myotonic dystrophy type 1 (DM1) and can be highly disabling.
Barbara Risi, Nesaiba Ait Allali, Stefano Cotti Piccinelli, Filomena Caria, Simona Damioli, Beatrice Labella, Enrica Bertella, Giorgia Giovanelli, Francesca Garofali, Giuseppina Margollicci, Roberto Carugati, Lucia Ferullo, Emanuele Olivieri, Loris Poli, Alessandro Padovani, Massimiliano Filosto   +15 more
doaj   +1 more source

Acceptability of a Protein Oral Nutritional Supplement with Xanthan Gum in Patients with Neuromuscular Diseases and Dysphagia: A Cross-Sectional Study

Gastrointestinal Disorders
Background/Objectives: Oropharyngeal dysphagia (OD) is a prevalent symptom in patients with neuromuscular diseases (NMDs) and increases the risk of aspiration and malnutrition.
Federica Felloni, Luca Costantini, Michela Coccia   +2 more
doaj   +1 more source