Results 31 to 40 of about 2,421,984 (303)

The role of humoral autoimmunity in gastrointestinal neuromuscular diseases [PDF]

, 2010
PhDDysfunction of the gastrointestinal neuromuscular apparatus (including interstitial cells of Cajal) is presumed to underlie a heterogeneous group of disorders collectively termed gastrointestinal neuromuscular diseases (GINMDs).
Hubball, Andrew William
core   +2 more sources

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies

Annals of Clinical and Translational Neurology, 2023
Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy   +7 more
doaj   +1 more source

Neuromuscular Diseases and Bone

Frontiers in Endocrinology, 2019
Neuromuscular diseases (NMDs) are inherited or acquired conditions affecting skeletal muscles, motor nerves, or neuromuscular junctions. Most of them are characterized by a progressive damage of muscle fibers with reduced muscle strength, disability, and poor health-related quality of life of affected patients.
Iolascon G, Paoletta M, Liguori S, Curci C, MORETTI A   +4 more
openaire   +4 more sources

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Nature Communications, 2022
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist ...
William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly   +22 more
doaj   +1 more source

Application of peripheral nerve and muscle ultrasound in neuromuscular diseases

, 2023
Peripheral nerve and muscle ultrasound (hereinafter referred to as neuromuscular ultrasound) has been increasingly widely used in neuromuscular diseases, which can not only reflect the morphological characteristics of neuromuscular, but also serve as an ...
LIU Ming‑sheng
core   +1 more source

Patient Preferences for Treatments of Neuromuscular Diseases: A Systematic Literature Review

, 2017
BACKGROUND: Treatment decisions of neuromuscular diseases involve weighing clinical benefits and risks, as well as impact on patient social life, work status, other activities of daily living, and health-related quality of life.
Lindgren, P,, Edström, J, Landfeldt, E,, Lochmüller, H   +3 more
core   +1 more source

A 20-year clinical and genetic neuromuscular cohort analysis in Lebanon: an international effort

, 2022
Background: Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce.
Chouery, Eliane, Megarbane, Andre, Sabbagh, Sandra, Deepthi, Asha, Hmaimess, Ghassan, Bizzari, Sami, Ghanem, Ismat, Koussa, Salam, Hani, Abeer, Mehawej, Cybel, Hasbini, Dana, Mansour, Hicham, Jabbour, Rosette, Alame, Saada   +13 more
core   +1 more source

The skeletal muscle phenotype of the DE50-MD dog model of Duchenne muscular dystrophy [version 1; peer review: 2 approved]

Wellcome Open Research, 2022
Background: Animal models of Duchenne muscular dystrophy (DMD) are essential to study disease progression and assess efficacy of therapeutic intervention, however dystrophic mice fail to display a clinically relevant phenotype, limiting translational ...
Claire Massey, Emma M.A. Foster, Dominic J. Wells, Frances Taylor-Brown, Richard J. Piercy, Dominique O. Riddell, John C.W. Hildyard, Faye Rawson, Rachel C.M. Harron   +8 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

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