Results 141 to 150 of about 249,635 (303)

Relative Frequency and Distinctive Features of Anti-Ma2 Nonparaneoplastic Neurologic Disorders: A French Cohort Study. [PDF]

Neurol Neuroimmunol Neuroinflamm
Vaisvilas M, Lafuente-Gómez G, Villagrán-García M, Farina A, Bonjour M, Ciano-Petersen NL, Comperat L, Picard G, Psimaras D, Joubert B, Honnorat J.   +10 more
europepmc   +1 more source

OWE-21 Seronegative villous atrophy of unknown origin displays distinctive clinical and genetic features and natural history [PDF]

, 2019
Annalisa Schiepatti, David S. Sanders, John Goodwin, Timothy J. Key, Paolo Giuffrida, Annalisa De Silvestri, Federico Biagi   +6 more
openalex   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Case Report: Distinctive features of cognitive dysfunction and amelioration by antiseizure medication in neuronal intranuclear inclusion disease. [PDF]

Front Neurosci
Ohara H, Yamanaka M, Okada F, Okazaki A, Dizon MD, Elangovan A, Babu HWS, Iyer M, Vellingiri B, Kinoshita M.   +9 more
europepmc   +1 more source

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 more
wiley   +1 more source

Genomic characterisation of endangered Landim pigs reveals distinctive features and immune-related selection. [PDF]

Front Vet Sci
Teixeira F, Sá P, Santos D, Garrine C, Zimba R, Augusto L, Varela-Martínez E, Chiaia H, Sebastino K, Cordeiro JM, Leitão A, Gama LT, Amaral AJ.   +12 more
europepmc   +1 more source

Distinctive Features of Hepatic Steatosis in Children: Is It Primary or Secondary to Inborn Errors of Metabolism? [PDF]

Pediatr Gastroenterol Hepatol Nutr, 2021
Karhan AN, Hizarcioglu-Gulsen H, Gumus E, Akçören Z, Demir H, Saltik-Temizel İN, Orhan D, Özen H.   +7 more
europepmc   +1 more source

DISTINCTIVE FEATURES AND STRATEGIC DIRECTIONS FOR FINANCING THE SOCIAL SPHERE IN UZBEKISTAN

Isroil Mamataliyev
openalex   +1 more source

Multivariate Analyses Revealed Distinctive Features Differentiating Human and Cattle Isolates of Shiga Toxin-Producing Escherichia coli O157 in Japan

, 2011
Kenichi Lee, Nigel French, Yukiko Hara‐Kudo, Sunao Iyoda, Hideki Kobayashi, Yoshiko Sugita‐Konishi, Hirokazu Tsubone, Susumu Kumagai   +7 more
openalex   +2 more sources

Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants

Annals of Clinical and Translational Neurology, EarlyView.
Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold, Krzysztof W. Selmaj, Regina Berkovich, Jeffrey A. Cohen, Giancarlo Comi, Eva K. Havrdová, James K. Sheffield, Hetal Desai, Chun‐Yen Cheng, Jon V. Riolo, Andrew Thorpe, Erik DeBoer, Bruce A. C. Cree   +12 more
wiley   +1 more source