Results 101 to 110 of about 515,298 (308)

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

Non-linearity of geocentre motion and its impact on the origin of the terrestrial reference frame

, 2014
The terrestrial reference frame is a cornerstone for modern geodesy and its applications for a wide range of Earth sciences. The underlying assumption for establishing a terrestrial reference frame is that the motion of the solid Earth's figure centre ...
Fang, Peng, Dong, Danan, Peng, Dongju, Qu, Weijing   +3 more
core  

On frame congruences generated by frame tolerances [PDF]

, 1992
summary:Nuclei of frame congruences generated by frame tolerances and by lattice congruences are ...
Niederle, Josef
core  

Influence of the frame of reference on head acceleration events recorded by instrumented mouthguards in community rugby players. [PDF]

BMJ Open Sport Exerc Med, 2022
Bussey MD, Davidson P, Salmon D, Romanchuk J, Tong D, Sole G.   +5 more
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Hierarchical video summarisation in reference frame subspace

, 2009
In this paper, a hierarchical video structure summarization approach using Laplacian Eigenmap is proposed, where a small set of reference frames is selected from the video sequence to form a reference subspace to measure the dissimilarity between two ...
Sadka, AH, Crookes, D, Jiang, RM
core  

Frame-Free Continuum Thermomechanics

, 2018
The principle of material frame-indifference is a fundamental concept in classical physics. In 1972 Walter Noll showed that one can formulate constitutive laws without using any external frames of reference.
Brian Seguin (5365004)
core   +1 more source

Quantum Galilei group as quantum reference frame transformations [PDF]

Quantum
Quantum groups have been widely explored as a tool to encode possible nontrivial generalisations of reference frame transformations, relevant in quantum gravity.
Angel Ballesteros, Diego Fernandez-Silvestre, Flaminia Giacomini, Giulia Gubitosi   +3 more
doaj   +1 more source

"Si Mis Papas Estuvieran Aquí": Unaccompanied Youth Workers' Emergent Frame of Reference and Health in the United States. [PDF]

J Health Soc Behav, 2023
Canizales SL.
europepmc   +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