Results 151 to 160 of about 4,432 (267)

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

Accurate geometric albedo, shape, and size of Hi'iaka from a stellar occultation. [PDF]

Nat Commun
Fernández-Valenzuela E, Ortiz JL, Holler BJ, Sicardy B, Rommel FL, Vara-Lubiano M, Morales N, Vachier F, Desmars J, Kretlow M, Vieira-Martins R, Jehin E, Ferrais M, Santos-Sanz P, Rustamkulov Z, de la Vega A, Warner E, Benkhaldoun Z, Kamin R, Ryan A, Earls B, Conti D, de Wit J, Burdanov A, Francini R, Langill P, Morales R, Fraser W, Kiss C, Pál A, Souami D, Lecacheux J, Braga-Ribas F, Duffard R, Alvarez-Candal A, Benedetti-Rossi G, Morgado B, Camargo JIB, Júnior ARG, Assafin M, Aissa DB, Grigahcene Z, Buie MW, Licandro J, Alarcon MR, Serra-Ricart M, Castro-Tirado A, Fernandez-Garcia EJ, Iglesias-Marzoa R, Galindo-Guil FJ, González H, Gonçalves R, Rengstorf A, Flynn R, Olsen A, Hanna B, Barnes J, A'Hearn JA, Kreyche SM, Miller WJ, Mortensen LE, Gibson TC, Walker G, Stolle-McAllister G, Feiden GA, Froetschel J, Steel S, Encardes D, Fisher RS, Luken A, Holcomb E, Caton D, Dunford B, Monin D.   +73 more
europepmc   +1 more source

Stellar distances from spectroscopic observations: a new technique [PDF]

Monthly Notices of the Royal Astronomical Society, 2010
Benedict Burnett, James Binney
openaire   +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

A complex structure of escaping helium spanning more than half the orbit of the ultra-hot Jupiter WASP-121 b. [PDF]

Nat Commun
Allart R, Coulombe LP, Carteret Y, Splinter J, Dang L, Bourrier V, Lafrenière D, Albert L, Artigau É, Benneke B, Cowan NB, Doyon R, Krishnamurthy V, Jayawardhana R, Johnstone D, Langeveld AB, Meyer MR, Pelletier S, Piaulet-Ghorayeb C, Radica M, Taylor J, Turner JD.   +21 more
europepmc   +1 more source

Note on the Problem of Great Stellar Distances [PDF]

Proceedings of the National Academy of Sciences, 1922
openaire   +2 more sources

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao, Rongwei Du, Zhujun Wang, Yang Gao, Meiling Cheng, Xianglong Wang, Wen Wu   +6 more
wiley   +1 more source

The Origins & Reservoirs of Exocomets. [PDF]

Space Sci Rev
Bannister M, Pfalzner S, Pearce T, Mustill AJ, Klahr H, Nomura H, Ohashi N, Kokotanekova R, Marino S, Bodewits D, Marschall R, Seligman DZ, Jones GH, Veras D.   +13 more
europepmc   +1 more source

Variables as stellar tracers and distance indicators

, 2015
The importance of pulsating stars as stellar population tracers and primary distance indicators is briefly reviewed. In particular, we discuss several approaches based on the comparison between the predictions of nonlinear convective pulsation models and observations, to constrain the intrinsic stellar parameters.
openaire   +1 more source

Assessment of Skin in Patients With Systemic Sclerosis Using High‐Frequency Ultrasound and Shear Wave Elastography: A Comparative Study With Histology, Molecular, and Clinical Parameters

Arthritis Care &Research, EarlyView.
Objective Ultrasound (US) has been proposed as a potential tool for assessing skin fibrosis in systemic sclerosis (SSc). However, a large‐scale comparison of US‐based assessment with histologic markers of skin fibrosis has not been reported. We evaluated US‐based skin assessments for their face validity (differentiation between involved SSc and healthy
Ruhani Desai, Filemon Tan, Minghua Wu, Jeffery L. Browning, Samuel Theodore, Meng Zhang, Brian Skaug, Harshdeep Singh Chawla, Manmohan Singh, Salavat Aglyamov, Kirill V. Larin, Maureen Mayes, Shervin Assassi   +12 more
wiley   +1 more source