Results 181 to 190 of about 7,136,334 (313)

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

Protocol for intranuclear Nrf2 detection in activated mouse, human, and Jurkat T cells by spectral flow cytometry. [PDF]

STAR Protoc
Tripathi A, Dasgupta D, Ahuja M, Fisette G, Santana-Magal N, Pyaram K.   +5 more
europepmc   +1 more source

Combinatorial multimer staining and spectral flow cytometry facilitate quantification and characterization of polysaccharide-specific B cell immunity. [PDF]

Commun Biol, 2023
Hoving D, Marques AHC, Huisman W, Nosoh BA, de Kroon AC, van Hengel ORJ, Wu BR, Steenbergen RAM, van Helden PM, Urban BC, Dhar N, Ferreira DM, Kwatra G, Hokke CH, Jochems SP.   +14 more
europepmc   +1 more source

Spectral Quasi-linearization Method forHomogeneous-Heterogeneous Reactions onNonlinear Convection Flow of Micropolar FluidSaturated Porous Medium with ConvectiveBoundary Condition

, 2016
Chetteti RamReddy, T. Pradeepa
openalex   +2 more sources

Experimental and Numerical Investigation of Vibration Power Flow of Thin Plate Using Cross Power Spectral Density Based Technique

, 2021
O K Nyein, B. A. Aminudin, S. Asnizah
openalex   +1 more source

Clinical Outcomes of SEEG‐Guided Radiofrequency Thermocoagulation in Children With Focal Drug‐Resistant Epilepsy: A Multicenter Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen, Stéphane Jean, Weihong Liu, Yihai Dai, Xinrong Fang, Xiaoqiang Wei, Shan Chen, Shiwei Song   +7 more
wiley   +1 more source

Spectral Flow Cytometry: The Current State and Future of the Technology. [PDF]

Int J Mol Sci
Astakhova EA, Gubaeva AS, Naumova DA, Egorova AE, Maznina AA, Rybkina IG, Osmanov IM, Tabakov DV, Mityaeva ON, Volchkov PY.   +9 more
europepmc   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Protocol for generating high-quality, 45-color spectral flow cytometry data for unsupervised clustering to investigate aging in human PBMCs. [PDF]

STAR Protoc
Krause CJ, Higuchi A, Tashiro S, Nakagawa K, Otsuka F, Yotoriyama T, Futamura K, Furuki M.   +7 more
europepmc   +1 more source

OMIP-095: 40-Color spectral flow cytometry delineates all major leukocyte populations in murine lymphoid tissues. [PDF]

Cytometry A, 2023
Kare AJ, Nichols L, Zermeno R, Raie MN, Tumbale SK, Ferrara KW.   +5 more
europepmc   +1 more source