Results 61 to 70 of about 7,022 (221)

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

An Aerodynamic Optimization Approach for Wind Turbine Blades Using Proper Generalized Decomposition

Energies
A new approach for optimizing the blade profile of a horizontal axis wind turbine is proposed in this paper, based on the combination of the Blade Element Momentum (BEM) method and Proper Generalized Decomposition (PGD).
Nacer Eddine Boumezbeur, Arezki Smaili
doaj   +1 more source

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Annals of Clinical and Translational Neurology, 2018
Limb‐girdle muscular dystrophies (LGMDs), one of the most heterogeneous neuromuscular disorders (NMDs), involves predominantly proximal‐muscle weakness with >30 genes associated with different subtypes.
B. Nallamilli, S. Chakravorty, A. Kesari, Alice K. Tanner, Arunkanth Ankala, T. Schneider, Cristina da Silva, Randall Beadling, J. Alexander, S. H. Askree, Zachary T. Whitt, Lora Bean, Christin D. Collins, S. Khadilkar, P. Gaitonde, Rashna S. Dastur, M. Wicklund, T. Mozaffar, M. Harms, L. Rufibach, Plavi Mittal, M. Hegde   +21 more
semanticscholar   +1 more source

Artificial Intelligence in Autonomous Mobile Robot Navigation: From Classical Approaches to Intelligent Adaptation

Advanced Intelligent Systems, EarlyView.
Artificial intelligence (AI) is reshaping autonomous mobile robot navigation beyond classical pipelines. This review analyzes how AI techniques are integrated into core navigation tasks, including path planning and control, localization and mapping, perception, and context‐aware decision‐making. Learning‐based, probabilistic, and soft‐computing methods
Giovanna Guaragnella, Angelo Cardellicchio, Cosimo Patruno, Massimiliano Nitti, Nicola Pedrocchi, Vito Renò   +5 more
wiley   +1 more source

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies

Annals of Clinical and Translational Neurology, 2023
Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive.
Babi R. R. Nallamilli, Yinghong Pan, Lisa Sniderman King, Lakshmanan Jagannathan, Vinish Ramachander, Ann Lucas, Jan Markind, Raffaella Colzani, Madhuri Hegde   +8 more
doaj   +1 more source

Modelling LGMD2 visual neuron system [PDF]

, 2015
Two Lobula Giant Movement Detectors (LGMDs) have been identified in the lobula region of the locust visual system: LGMD1 and LGMD2. LGMD1 had been successfully used in robot navigation to avoid impending collision.
Fu, Qinbing, Yue, Shigang
core   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Genetic and phenotypic characteristics of 3 patients with limb-girdle muscular dystrophy: experience in a medical center in Mexico

Egyptian Journal of Medical Human Genetics
Introduction Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically inherited muscular disorders. Due to the inherent phenotypic variation among different LGMD forms, clinical diagnosis remains challenging.
Valentina Martínez-Montoya, Alejandro Martínez-Herrera, Oscar Mancera-Páez, Alberto Hidalgo-Bravo, María R. Rivera-Vega   +4 more
doaj   +1 more source

Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies

Orphanet Journal of Rare Diseases, 2022
Background Limb-girdle muscular dystrophy (LGMD) is a rare neuromuscular disease including a growing and heterogeneous number of subtypes with variable phenotype.
José Luis García-Giménez, Elena R. García-Trevijano, Ana I. Avilés-Alía, José Santiago Ibañez-Cabellos, Miquel Bovea-Marco, Teresa Bas, Federico V. Pallardó, Juan R. Viña, Rosa Zaragozá   +8 more
doaj   +1 more source

The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]

, 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert), Barth, P.G. (Peter), Bolhuis, P.A. (P.), Busch, H.F.M. (Herman), Essen, J.A. (Anthonie) van, Ginjaar, I.B. (Ieke), Haan, R.J. (Rob) de, Hooff, L.J.M.A. (L. J M A) van, Höweler, C.J. (Chris), Jennekens, F.G.I. (Frans G.), Jongen, P. (P.), Kooj, A.J. (Anneke), Ommen, G.J. (Gert) van, Oosterhuis, H.J.G.H. (H. J G H), Padberg, B. (Barbara), Spaans, F. (F.), Visser, M. (Marianne) de, Wintzen, A.R. (Axel), Wokke, J.H.J. (John)   +18 more
core   +1 more source