Results 151 to 160 of about 11,599,832 (322)
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 sourceIV Thrombolysis Facilitates Interventional Reperfusion in Non‐Cardioembolic but Not Cardioembolic Stroke
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Intravenous thrombolysis (IVT) before thrombectomy for ischemic stroke may alter clot structure and procedural performance. We investigated how IVT relates to thrombectomy metrics across stroke etiologies. Methods
We performed a time‐to‐event analysis of consecutive patients with anterior circulation large vessel occlusion (acLVO ...Annahita Sedghi, Daniel P. O. Kaiser, Martin Arndt, Norma J. Diel, Erik Simon, Witold H. Polanski, Volker Puetz, Hagen B. Huttner, Timo Siepmann +8 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 sourceBJZ volume 82 issue 336 Cover and Front matter [PDF]
, 1936 Douglas Mcrae, Morag Smith, Reginald Worth, John K. Jackson, Samuel Edgerley, R Clarkson, Mjchael, Abdv Collins, Lindl Ex, Daniel Rambaut, Ml Treasurerâ€, George, William L. Smith, Odessa Consul General, vhitwell, Macfarlaxe, D South-Westernâ€, Simona Cristina Martin, M Divisional Northern, Midland €, Russell Russell, F Secretaries, Scottish €", W. Bruce McAlister, Robert M. Thompson, Nathan Raw, Secretaryâ€, Louise Haynes, A Chairmanâ€, F Vice-Chairmanâ€, Douglas Mc, M Masefield, Clifford €", F Golla, A Petrie, Chairmanâ€, L Vice-Chazrman, €, M Secretaryâ€, Fiona Lewis, Ma Hamblin Smith, D valk, Lora E. Fleming, Jamie C. Sergeant, Andrew J. Sinclair, H. H. Haynes, W Brown, Toni Lindsay, R Stewart, J Skottowe, M Edgerley, C Archdale, Mary V. Thomas, Nuala McGrath, M Div, A Dryden, Scottish Div, H. C. Beccle, Hubert Bond, A Boyle, R Cami, Daniel L. Blair, Bolton Shaw, Hubert Sir, A. Helen, Cormac Dove, Keith G. Brooks, T. E. Neil, Marr Hamilton, Menzies, Smith Percy, Stewart Mackenzie, Turner Douglas, White Barton, Jim Bolton, Campb, William Daniel, O Dawson, Good Saxty, Jarrett Fitzroy, H Leech, E. D. Mapother, Smith Percy, Thomas Rees, vh te Barton, A Boyle, Starkey William, Hamilton C. Marr, Duncan J. Henderson, W.R. Menzies, Monica Nolan, Jane Phillips, C. Bower, John Glaister, W. Norwood East, Michael R. Hamblin, W. A. Potts, Anthony C. Bruce, E. W. Goodall, Sub-Committees Nicole +99 moreopenalex +1 more sourceA reversible allosteric inhibitor of GlyT2 for neuropathic pain without on-target side effects. [PDF]
Nat CommunCantwell Chater RP, Peiser-Oliver J, Pati TK, Quinn AS, Lotsaris I, Frangos ZJ, Anderson KE, Tischer AE, Williams-Noonan BJ, Aubrey KR, O'Mara ML, Michaelides M, Mohammadi SA, Cioffi CL, Vandenberg RJ, Shahsavar A. +15 moreeuropepmc +1 more source
