Results 31 to 40 of about 2,312,065 (203)

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
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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

The genetic profile of childhood neuromuscular disorders: A single center experience [PDF]

, 2023
Neuromuscular Diseases are a heterogeneous group of childhood disorders, and differential diagnosis can be challenging. Although there is no definitive treatment for the most of this group of diseases, early diagnosis is important with the development of
Ayaz, Akif, Öztürk, Gülten, Özcan, S. Aksoy, Tezel, Oğuzhan, Polat, H., Türkdoğan, Dilşad, Ünver, Olcay   +6 more
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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

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
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Hereditary Neuromuscular Diseases and Cardiac Involvement

, 2020
Neuromuscular disorders comprise a large group of diseases caused by dysfunction of motor neurons, peripheral nerves and skeletal muscles. A fair proportion of neuromuscular disorders have a genetic cause. The incidence and prevalence of cardiomyopathies
K. Wahbi, A. J. van der Kooi, van der Kooi, A. J., van Westrum, S. M. Schade, S. M. Schade van Westrum, G. Bonne, Wahbi, K., Bonne, G.   +7 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
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Affordable optical clearing and immunolabelling in mouse brain slices

BMC Research Notes, 2023
Traditional histological analysis is conducted on thin tissue sections, limiting the data capture from large tissue volumes to 2D profiles, and requiring stereological methods for 3D assessment.
Phillip M. Muza, Marta Pérez, Suzanna Noy, Miyu Kurosawa, Loukia Katsouri, Victor L. J. Tybulewicz, Elizabeth M.C. Fisher, Steven J. West   +7 more
doaj   +1 more source