Results 71 to 80 of about 2,421,984 (303)
Cognition in neuromuscular disease
Journal of Pediatric Rehabilitation Medicine, 2008 Although neuromuscular diseases primarily affect an individual's physical functioning, the cognitive and psychosocial effects of these conditions can be quite significant. This paper provides an overview of a subset of neuromuscular diseases and their associated neurocognitive risks.Angela Giacoletti, Argento, Jacqueline, Kaufman +1 moreopenaire +2 more sourcesFactors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry
, 2022 Background and purpose: Clinical outcome information on patients with neuromuscular diseases (NMDs) who have been infected with SARS-CoV-2 is limited.Servidei, Serenella, Ernestina Santos, Oliveira, Acary S B, Serenella Servidei, Lucia Galan, Brady, Stefen, Chiara Pizzamiglio, Alejandro Horga, Neuromuscular Dis COVID-19 Study G, Galan, Lucia, Hanna, Michael G, Paulo V. Sgobbi Souza, Vishnu Venugopalan, Guido Primiano, Souza, Paulo V. Sgobbi, Robert D. S. Pitceathly, Lunn, Michael P, Wladimir B. V. R. Pinto, Hanna, Michael G., Pedro M. Machado, Pinto, Wladimir B. V. R., De Marchi, Fabiola, Pitceathly, Robert D. S., Heckmann, Jeannine M., Benedikt Schoser, Santos, Ernestina, Michael G. Hanna, Oliveira, Acary S. B., Sgobbi Souza, Paulo V, Schoser, Benedikt, for the Neuromuscular Diseases and COVID-19 Study Group, Pizzamiglio, Chiara, Horga, Alejandro, Dimachkie, Mazen M, Michael P. Lunn, Venugopalan, Vishnu, Acary S. B. Oliveira, Neuromuscular Diseases and COVID-19 Study Group, Primiano, Guido, Stefen Brady, Machado, Pedro M., Fabiola De Marchi, Pitceathly, Robert D S, Mazen M. Dimachkie, Maria J. Molnar, Lunn, Michael P., Jeannine M. Heckmann, Molnar, Maria J, Pinto, Wladimir B V R, Machado, Pedro M, Dimachkie, Mazen M., Heckmann, Jeannine M, Mancuso, Michelangelo, Molnar, Maria J., Smuts, Izelle, Ciocca, Matteo, Horvath, Rita, Venugopalan, V., Pinto, W., Bearden, David, Nortley, Ross, Menon R, Sarath, Patil, Anuja, Holt, James, Vecchio, Domizia, Juanatey, Ana, Musumeci O, Guerrero Sola, Antonio, Santos, E., Dhamne, Megha, Skorupinska, Mariola, Dimachkie, M.M., Burke, Georgina, Themistocleous, Andreas, Keddie, Stephen, Primiano, G., Lunn, M.P., Evangelista, Teresinha, Record, Christopher, Heckmann, J.M., Eshun, Edwin, Janssen, M.C.H., Brennan, Kathryn, Kiss-Csenki, Annamaria, Sansone, Valeria, Rinaldi, Simon, Kumar, Guru, Wall, Jasmine, Newman, Edward, Geraldes, Ruth, Oktay, YAVUZ, Wannop, Kate, Gabriel, Carolyn, McFarland, Robert, Braga Farias, Igor, Brady, S., Ambrose, Philip, Marchi, F. De, Sivasathiaseelan, Harri, Sasidharan, Sandhya, Zosmer, Maya, Groothuis, Jan T, Foo, Eng C, Keh, Ryan, Nesbitt, Victoria, Galan, L., R, Dileep, Raga, Sharika, Musumeci, Olimpia, Price, Olivia, Paterson, Ross W, Machado, P.M., Schoser, B., Pizzamiglio, C., Bugiardini, Enrico, Gorman, Gràinne S, Ramaratnam, Sridharan, Chinnery, Patrick F, Souza, P.V. Sgobbi, Pitceathly, R.D.S., Allen, Claire, Yareeda, Sireesha, Molnar, M.J., Elsaddig, Amar, Gamez, Josep, Horga, A., Romeiro, Ana, Watson-Fargie, Taylor, Pritchard, Jane, Lim, Albert, Ramdharry, Gita, Macken, William L, Rathna Sabapathi, DeviPriya, Saavedra, Lillian, Janssen, Mirian, Neshuku, Saara, Marshall, Charles, Mehta, Puja R, Househam, Liz, Hanna, M.G., Thomas, Rhys H, Groothuis, J.T., Shakthi, K J S, Oliveira, A.S.B., Desai, Soaham, Servidei, S., Clayton, Lisa, Laura, Matilde, Duggal, Ashish +148 morecore +1 more sourceMetabolic and Fluid Biomarkers Support Microglia Activation in Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Amyotrophic lateral sclerosis is an incurable neurodegenerative disease involving motor neuron degeneration and metabolic and immune dysfunction. We combined clinical data, cerebrospinal fluid biomarkers and fluorodeoxyglucose positron emission tomography with magnetic resonance imaging to investigate the role of reactive microglia in disease ...Matteo Zanovello, Francesca Serani, Alen Bebeti, Federica Paredi, Giulia Quadrio, Andrea Fortuna, Giacomo Maria Minicuci, Elena Pegoraro, Annachiara Cagnin, Diego Cecchin, Gianni Sorarù +10 morewiley +1 more sourceAutoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi +9 morewiley +1 more sourceGenetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models
Scientific Reports, 2021 Individuals who have Down syndrome (caused by trisomy of chromosome 21), have a greatly elevated risk of early-onset Alzheimer’s disease, in which amyloid-β accumulates in the brain. Amyloid-β is a product of the chromosome 21 gene APP (amyloid precursor Justin L. Tosh, Elena R. Rhymes, Paige Mumford, Heather T. Whittaker, Laura J. Pulford, Sue J. Noy, Karen Cleverley, LonDownS Consortium, Matthew C. Walker, Victor L. J. Tybulewicz, Rob C. Wykes, Elizabeth M. C. Fisher, Frances K. Wiseman +12 moredoaj +1 more sourceClinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos +22 morewiley +1 more sourceReal-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Orphanet Journal of Rare DiseasesBackground Spinal muscular atrophy type 1 (SMA1) is the most severe and early form of SMA, a genetic disease with motor neuron degeneration. Onasemnogene abeparvovec gene transfer therapy (GT) has changed the natural history of SMA1, but real-world data ...Isabelle Desguerre, Rémi Barrois, Frédérique Audic, Christine Barnerias, Brigitte Chabrol, Jean Baptiste Davion, Julien Durigneux, Caroline Espil-Taris, Marta Gomez-Garcia de la Banda, Marine Guichard, Arnaud Isapof, Marie Christine Nougues, Vincent Laugel, Laure Le Goff, Sandra Mercier, Anne Pervillé, Christian Richelme, Marie Thibaud, Catherine Sarret, Cyril Schweitzer, Hervé Testard, Valérie Trommsdorff, Catherine Vanhulle, Ulrike Walther-Louvier, Cécilia Altuzarra, Mondher Chouchane, Juliette Ropars, Susana Quijano-Roy, Claude Cances +28 moredoaj +1 more sourceDeterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice
Disease Models & Mechanisms, 2020 Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's Disease, is a late-onset X-linked progressive neuromuscular disease, which predominantly affects males.Anna L. Gray, Leonette Annan, James R. T. Dick, Albert R. La Spada, Michael G. Hanna, Linda Greensmith, Bilal Malik +6 moredoaj +1 more sourceMyostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi +11 morewiley +1 more source
