Results 71 to 80 of about 2,830,600 (272)

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 Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +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

Optimal LiFePO4 ratios and loadings for LFP-type cathodes with Single-Ion Conducting Polymer Electrolyte (SICPE) membranes based on PBDT/LiFSI/MPPIFSI for lithium-ion batteries+

Applied Surface Science Advances
LiFePO4 composite cathodes based on LFP, carbon black, and PVDF were prepared with different mass percentages and loadings of the active material, and integrated in CR2032 cells using a Single-Ion Conducting Polymer Electrolyte (SICPE) membrane ...
Luisa Roxana Mandoc, Amalia Maria Soare, Giorgian Cosmin Ungureanu, Violeta-Carolina Niculescu, Mirela Irina Petreanu, Radu Dorin Andrei, Athanasios Tiliakos   +6 more
doaj   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Heat transfer in cryogenic helium gas by turbulent Rayleigh–Bénard convection in a cylindrical cell of aspect ratio 1

New Journal of Physics, 2014
We present experimental results on the heat transfer efficiency of cryogenic turbulent Rayleigh–Bénard convection (RBC) in a cylindrical cell 0.3 m in both diameter and height which has improvements with respect to various corrections connected with ...
Pavel Urban, Pavel Hanzelka, Věra Musilová, Tomáš Králík, Marco La Mantia, Aleš Srnka, Ladislav Skrbek   +6 more
doaj   +1 more source

The Renal Activity Index for Lupus Identifies Active Renal Disease and Treatment Response in Adult Patients With Systemic Lupus Erythematosus and Lupus Nephritis

Arthritis Care &Research, EarlyView.
Objective We evaluated the ability of the Renal Activity Index for Lupus (RAIL) to discriminate active lupus nephritis (LN) in adult patients with active systemic lupus erythematosus (SLE) and differentiate LN treatment response. Methods Urine samples from adults with biopsy‐proven active class III and IV LN from TULIP‐LN (active LN group ...
Hermine I. Brunner, Ellen M. Cody, Prasad Devarajan, Bin Huang, Chen Chen, Dominic Sinibaldi, Madhu Ramaswamy, Jacob Knagenhjelm, Frederick Jones, Philip Z. Brohawn, Raj Tummala, Catharina Lindholm, Wendy I. White   +12 more
wiley   +1 more source

Cloud-scale Gas Properties, Depletion Times, and Star Formation Efficiency per Freefall Time in PHANGS–ALMA

The Astrophysical Journal
We compare measurements of star formation efficiency to cloud-scale gas properties across the PHANGS– ALMA sample. Dividing 67 galaxies into 1.5 kpc scale regions, we calculate the molecular gas depletion time ${\tau }_{{\rm{dep}}}^{{\rm{mol}}}={{\rm ...
Adam K. Leroy, Jiayi Sun, Sharon Meidt, Oscar Agertz, I-Da Chiang, Jindra Gensior, Simon C. O. Glover, Oleg Y. Gnedin, Annie Hughes, Eva Schinnerer, Ashley T. Barnes, Frank Bigiel, Alberto D. Bolatto, Dario Colombo, Jakob den Brok, Mélanie Chevance, Ryan Chown, Cosima Eibensteiner, Damian R. Gleis, Kathryn Grasha, Jonathan D. Henshaw, Ralf S. Klessen, Eric W. Koch, Elias K. Oakes, Hsi-An Pan, Miguel Querejeta, Erik Rosolowsky, Toshiki Saito, Karin Sandstrom, Sumit K. Sarbadhicary, Yu-Hsuan Teng, Antonio Usero, Dyas Utomo, Thomas G. Williams   +33 more
doaj   +1 more source

Response to Allopurinol and Febuxostat According to the Fractional Excretion of Urate in Men With Gout

Arthritis Care &Research, EarlyView.
Objective Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of uric acid (FEUA) also modulates this response and relates to oxypurinol concentrations.
Pascal Richette, Anouk Walter‐Petrich, Quang Dinh Nguyen, Matthieu Resche‐Rigon, Quang Huy Dinh Nguyen, Minh Duc Do, Thao Phuong Mai, Tuan Duc Nguyen, Fernando Perez‐Ruiz, Emmanuel Letavernier, Tristan Pascart, Augustin Latourte, Hang Korng Ea, Thomas Bardin   +13 more
wiley   +1 more source

A Eurasian otter Lutra lutra (Linnaeus 1758) (Carnivora: Mustelidae) in the Tiber basin near Rome: relict or range expansion?

Natural History Sciences
The Eurasian otter Lutra lutra faced a significant decline in Italy during the 20th century, leading to local extinctions. After fifty years of otter disappearance from the Tiber basin, this study documents a sighting near Rome, obtained during a long ...
Francesco Cervoni, Marco Giardini, Simone D’Urbano, Daniele Marini, Claudio Grispigni Manetti   +4 more
doaj   +1 more source