Results 81 to 90 of about 383,968 (297)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro +72 morewiley +1 more sourceSPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio +19 morewiley +1 more sourceTestosterone deficiency increases hospital readmission and mortality rates in male patients with heart failure. [PDF]
, 2015 BackgroundTestosterone deficiency in patients with heart failure (HF) is associated with decreased exercise capacity and mortality; however, its impact on hospital readmission rate is uncertain.Alves, Maria-Janieire de Nazaré Nunes, Arap, Marco Antônio, Barretto, Antônio Carlos Pereira, Fonseca, Guilherme, Groehs, Raphaela Vilar Ramalho, Middlekauff, Holly R, Negrão, Carlos Eduardo, Santos, Marcelo Rodrigues dos, Sayegh, Ana Luiza Carrari, Trombetta, Ivani Credidio +9 morecore +3 more sourcesSex Differences in Medication Discontinuation in Axial Spondyloarthritis
Arthritis Care &Research, EarlyView.Objective
We examined sex differences in medication discontinuation among patients with axial spondyloarthritis (axSpA) initiating tumor necrosis factor inhibitors (TNFi), interleukin‐17 inhibitors (IL‐17i), or JAK inhibitors (JAKi). Methods
Using data from the Rheumatology Informatics System for Effectiveness (RISE) Registry (2003–2025), we assessed ...Rachael Stovall, Cinthia Blat, Eric Roberts, Jean W. Liew, Katherine Wysham, Namrata Singh, Janna Friedly, Lianne S. Gensler, Gabriela Schmajuk, Jinoos Yazdany +9 morewiley +1 more sourceA new type of lordosis and vertebral body compression in Gilthead seabream, Sparus aurata Linnaeus, 1758: aetiology, anatomy and consequences for survival [PDF]
, 2013 A new type of vertebral malformation is described, consisting of deformed cartilaginous neural and haemal processes and the compression and fusion of vertebral bodies. The malformation is designated as haemal vertebral compression and fusion (haemal VCF).Georgiou, AN, Koumoundouros, G, Loizides, M, Somarakis, S, Witten, Paul +4 morecore +2 more sourcesSkeletal Related Events in Prostate Cancer: Important Therapeutic Considerations
, 2011 In western countries, prostate cancer is the most common non-dermatological malignant disease in men. An estimated 217730 new cases will have been diagnosed in 2010 in the USA (Jemal A et al., 2010) and 382250 cases were diagnosed in 2008 in Europe (Ferlay J et al., 2010), accounting for 28% and 22% of new non-cutaneous cancer diagnoses, respectively ...Múgica, Miguel Álvarez, Gómez, Jesús Ma Fernández, Monzón, Antonio Jalón, Vázquez, Verónica Bulnes, Miguelez, Erasmo, González, Francisco Valle +5 moreopenaire +3 more sourcesImmune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome
Arthritis Care &Research, EarlyView.Objective
Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.Selene Rubino, Grant W. Cannon, Brian C. Sauer, Jorge Rojas, Gregory J. Stoddard, Gary A. Kunkel, Jessica A. Walsh, Bryant R. England, Joshua F. Baker, Tawnie J. Braaten +9 morewiley +1 more sourceMolecular and cellular mechanisms underlying the evolution of form and function in the amniote jaw. [PDF]
, 2019 The amniote jaw complex is a remarkable amalgamation of derivatives from distinct embryonic cell lineages. During development, the cells in these lineages experience concerted movements, migrations, and signaling interactions that take them from their ...A Abzhanov, A Abzhanov, A Abzhanov, A Baggiolini, A Baroffio, A Beverdam, A Chevallier, A Davidian, A del Rio, A Graham, A Graham, A Hosseini, A Rinon, A Roycroft, A Sharir, A Shellard, A Subramanian, AA Pitsillides, AE Adams, AE Merrill, AG Robling, AG Robling, AH Jheon, AJ Hughes, AL Romanoff, AL Tavares, ALP Tavares, AM Bailleul, AM Bailleul, AM Lucas, AS Pollard, AS Romer, AS Romer, AS Tucker, AS Tucker, AW Crompton, AW Crompton, B Christ, B McBratney-Owen, B Ruhin, BA Moore-Scott, BD Matthews, BF Eames, BF Eames, BF Kingsbury, BK Hall, BK Hall, BK Hall, BK Hall, BK Hall, BK Hall, BK Hall, BK Hall, BK Hall, BK Hall, BK Hall, BL Pruitt, C Attanasio, C Gans, C Gegenbaur, C Holliday, C Mitgutsch, C Patterson, C Reichert, CI Lorda-Diez, CL Hammond, CS Le Lievre, CS Le Lièvre, CT Miller, CV Baker, CV Baker, CW Benkman, CW Benkman, D Hu, D Hu, D Hu, D Hu, D Noden, DD Davis, DE Clouthier, DG Wilkinson, DJ Evans, DL Stemple, DM Noden, DM Noden, DM Noden, DM Noden, DM Noden, DM Noden, DM Noden, DM Noden, DM Noden, DM Noden, DM Noden, DM Noden, DR Carter, DR Cordero, E Berthet, E Blitz, E Blitz, E Dupin, E Gaupp, E Jarvik, E Theveneau, E Tzahor, E Tzahor, E Zelzer, EC Olesnicky Killian, EF Allin, EL Ealba, EM Sefton, EP Allis, EP Allis, EP Allis, ER Lankester, ES Goodrich, ES Goodrich, ES Russell, F Lescroart, F Liu, FJ Smith, FL Landacre, FV Jotereau, FW Chamberlain, G Andres, G Balooch, G Couly, G Couly, G Couly, G Kardon, G Kardon, G Köntges, G Wagner, G Zweers, GA Zweers, GA Zweers, GA Zweers, GB Muller, GF Couly, GF Couly, GM Morriss-Kay, GR de Beer, GR de Beer, GR de Beer, H Vinkka, HB Shaffer, HJ Chong, HL Hamilton, HL Szabo-Rogers, HP Shih, I Bothe, I Raizman, I Rot-Nikcevic, J Apostolakos, J Fang, J Grenier, J Hall, J Jeong, J Kahn, J Ruberte, J Stutzmann, JA Helms, JB Gross, JB Platt, JF Webb, JJ Baumel, JJ Schoenebeck, JJ Schoenebeck, JL Chang, JL Fish, JL Fish, JL Fish, JL Fish, JM Brito, JM Richman, JM Tabler, JN Thompson, JP Golding, JR Merida-Velasco, JR Merida-Velasco, JR Robbins, JS Kingsley, JW Kingsbury, K Hayashi, K Sheehan-Rooney, K Yasui, KC Woronowicz, KC Wu, KE Haworth, KJ Lamb, KK Smith, KK Smith, KK Smith, KK Smith, KS Thomson, KW Li, KW Tosney, L LeResche, L Olsson, L Ramage, LB Ruest, LS Gammill, LS Stone, LS Stone, M Bancroft, M Benjamin, M Bronner-Fraser, M Bronner-Fraser, M Hoso, M Jollie, M Jollie, M Jollie, M Jollie, M Linde-Medina, M Minoux, M Persson, M Qiu, M Qiu, M Sieber-Blum, M Simoes-Costa, M Takechi, M Tokita, M Tokita, MA Selleck, MA Shkoukani, MAJ Selleck, MJ Depew, MJ Depew, MJ Depew, MJ Depew, ML Martik, ML Moss, ML Moss, MM Dawson, MM Smith, MM Smith, MN Spyropoulos, MR Sanchez-Villagra, MR Sánchez-Villagra, MS Tyler, MSY Lee, N Anthwal, N Anthwal, N Anthwal, N Wang, NC Jones, NJ Giori, NM Young, NM Young, NN Soni, NS Bradley, O Campas, O Rieppel, OP Hamill, P Betancur, P Danaisawadi, P Hunt, P Kissel, P Kulesa, P Murray, P Murray, P Thorogood, P Wu, P Wu, PA Trainor, PA Trainor, PA Trainor, PA Trainor, PA Trainor, PA Trainor, PA Trainor, PD Henion, PDF Murray, PH Francis-West, PS Verma, PY Lwigale, R Cerny, R Derynck, R Diogo, R Luo, R Mallarino, R McBeath, R McLennan, R McLennan, R Owen, R Owen, R Presley, R Presley, R Sambasivan, R Sambasivan, R Schweitzer, RA Schneider, RA Schneider, RA Schneider, RA Schneider, RA Schneider, RA Schneider, RA Schneider, RA Schneider, RA Schneider, RA Yuodelis, RC Garcez, RC Mootoosamy, RC Solem, RG Harrison, RG Northcutt, RG Northcutt, RJ Gorlin, RL Carroll, RL Zusi, RW Oppenheim, RW Oppenheim, RW Oppenheim, RW Shufeldt, S Alappat, S Amin, S Creuzet, S Dupont, S Ekanayake, S Hörstadius, S Kavumpurath, S Krispin, S Kuraku, S Kuratani, S Kuratani, S Kuratani, S Kuratani, S Kuratani, S Kuratani, S Kuratani, S Lamichhaney, S Lautenschlager, S Lautenschlager, S Murakami, S Shibata, S Tajbakhsh, S Thomopoulos, S Wadhwa, SC Ahlgren, SC Ahlgren, SH Lee, SH Reynolds, SJ Gould, SJ Mathew, SL Horowitz, SL Prescott, SL Washburn, SR Roberts, SW Herring, T Hems, T Hirasawa, T Kantomaa, T Maeda, T Mammoto, T Matsuoka, T Miyashita, T Rowe, T Sato, T Sauka-Spengler, T Sauka-Spengler, T Square, T Thomas, T Yoshida, TA Appel, TA Mitsiadis, TA Mitsiadis, TC Fitzgerald, TE Parsons, TG Boyd, TH Huxley, TH Huxley, TL Vincent, V Govindarajan, V Hamburger, V Hamburger, V Shone, VL Naples, W Maier, WA Beresford, WA Beresford, WE Reif, WF Van den Heuvel, WG Hall, WJ Moore, WJ Moore, WK Parker, WM McLeod, X Jiang, X Li, XL Tu, Y Hashimoto, Y Shigetani, Y Shigetani, Y Shwartz, Y Song, Y Sugimoto +395 morecore +1 more sourcePain and Patient‐Reported Physical Function Did Not Differ Among Body Composition Profiles in Patients With Hip Osteoarthritis
Arthritis Care &Research, EarlyView.Objective
To explore whether higher body fat and lower lean mass are associated with greater pain and worse patient‐reported physical function in individuals with hip osteoarthritis (OA). A secondary aim was to examine whether pain and patient‐reported physical function differ according to four body composition profiles: high body fat, low lean mass ...Alexandra Ryan, Boliang Wang, Fiona Dobson, Ben Kirk, Travis Haber, Kim L. Bennell, Shirley P. Yu, Kim Allison, Ricardo J. S. Costa, Gabrielle Knox, Michelle Hall +10 morewiley +1 more source
