Results 171 to 180 of about 784,063 (262)

Understanding Orthopaedic and Health-related Quality of Life Outcomes in Patients With Myelomeningocele Functional Classification 1 Spina Bifida in Relationship to Supportive Standing. [PDF]

J Pediatr Soc North Am
Shen P, Swaroop VT, Rojas AM, Hirsch J, Chu DI, Papadakis JL, Bowman R, Larson JE.   +7 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

A bioinformatic approach for the prediction and functional classification of Toxoplasma gondii long non-coding RNAs. [PDF]

Sci Rep
Vanagas L, Cristaldi C, La Bella G, Ganuza A, Angel SO, Alonso AM.   +5 more
europepmc   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

Diversity, functional classification and genotyping of SHV β-lactamases in <i>Klebsiella pneumoniae</i>. [PDF]

Microb Genom
Tsang KK, Lam MMC, Wick RR, Wyres KL, Bachman M, Baker S, Barry K, Brisse S, Campino S, Chiaverini A, Cirillo DM, Clark T, Corander J, Corbella M, Cornacchia A, Cuénod A, D'Alterio N, Di Marco F, Donado-Godoy P, Egli A, Farzana R, Feil EJ, Fostervold A, Gorrie CL, Hassan B, Hetland MAK, Hoa LNM, Hoi LT, Howden B, Ikhimiukor OO, Jenney AWJ, Kaspersen H, Khokhar F, Leangapichart T, Ligowska-Marzęta M, Löhr IH, Long SW, Mathers AJ, McArthur AG, Nagaraj G, Oaikhena AO, Okeke IN, Perdigão J, Parikh H, Pham MH, Pomilio F, Raffelsberger N, Rakotondrasoa A, Kumar KLR, Roberts LW, Rodrigues C, Samuelsen Ø, Sands K, Sassera D, Seth-Smith H, Shamanna V, Sherry NL, Sia S, Spadar A, Stoesser N, Sunde M, Sundsfjord A, Thach PN, Thomson NR, Thorpe HA, Torok ME, Trang VD, Trung NV, Vornhagen J, Walsh T, Warne B, Wilson H, Wright GD, Holt KE, KlebNET-Gsp Amr Genotype-Phenotype Group.   +74 more
europepmc   +1 more source

IV 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 more
wiley   +1 more source

Validity of the Functional Classification of the Upper Extremities for Duchenne Muscular Dystrophy. [PDF]

Prog Rehabil Med
Miyazaki Y, Hara T, Hagiwara K, Nakamura T, Kamimura A, Takeshita E, Komaki H, Mizuno K, Tsuji T, Abo M.   +9 more
europepmc   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Questioning the classification of "high blood flow" versus "low blood flow" ECCO₂R in ultra-low tidal volume ventilation studies: a call for functional classification. [PDF]

Crit Care
Wang M, Yao Q, Zhu M.
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source