Results 51 to 60 of about 2,687 (150)

LGMD. Identification, description and classification.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020
The term 'limb girdle muscular dystrophy' (LGMD) was first used in the seminal paper by Walton and Nattrass in 1954, were they identified LGMD as a separate clinical entity In LGMD description it is pointed out that the category of LGMD most likely comprises a heterogeneous group of disorders.
openaire   +2 more sources

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Convergent Post‐Drought Recovery of Biomass and Functional Traits Under Constant and Periodic Warming in Slow‐ and Fast‐Growing Plants

Global Change Biology Communications, Volume 1, Issue 2, June 2026.
In a 2‐year outdoor mesocosm experiment, slow‐ and fast‐growing grassland plants exhibit biomass‐trait decoupling 1 month after drought, particularly under warmed conditions. This decoupling disappears 4 months after drought by the end of the growing season.
Nicolò Tartini, Ludovico Formenti, Yu Sun, Lauriane Bégué, Caroline Daniel, Itzel Lopez‐Montoya, Gerard Martínez‐De León, Nicholas O. E. Ofiti, Hang Zhao, Madhav P. Thakur   +9 more
wiley   +1 more source

A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report

BMC Musculoskeletal Disorders
Background Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits.
Hamed Hesami, Serwa Ghasemi, Golnaz Houshmand, Yalda Nilipour, Mahshid Hesami, Alireza Biglari, Shahriar Nafissi, Majid Maleki, Samira Kalayinia   +8 more
doaj   +1 more source

Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis

Frontiers in Genetics
IntroductionHereditary myopathies arise due to numerous pathogenic variants occurring in distinct genes, which amount to several hundred. Limb–girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders involving more ...
Jorge Alfredo Bevilacqua, Abdullah Mohammed Al-Salti, Abubaker Al Madani, Armando Alves da Fonseca, Hacer Durmus, Josiah Chai, Ali Alshehri, Márcia Gonçalves Ribeiro, Paulo Sgobbi, Sergey S. Nikitin, Steven Vargas, Adriana Furtado, Nathan Thibault, Roberto Araujo, Nadia Daba   +14 more
doaj   +1 more source

Elbow Flexors Muscle Fat Fraction Is a Sensitive and Relevant Outcome Measure in Nonambulant Patients With DMD

NMR in Biomedicine, Volume 39, Issue 6, June 2026.
Quantitative MRI of upper limb muscles in DMD patients showed increasing sensitivity to change over time with larger analysis volumes and longer follow‐up. Muscle fat fraction had the highest sensitivity to change and was associated with declining upper limb function, supporting its value as a robust imaging biomarker in DMD. ABSTRACT Duchenne muscular
M. Michaëls, K. J. Naarding, M. van der Holst, N. Geijsen, E. H. Niks, H. E. Kan   +5 more
wiley   +1 more source

Ryanodine Receptor Ca2+ Leak‐Induced Redistribution of Ca2+ in Dystrophic mdx Mouse Muscle

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The dystrophic mdx mouse is a widely used model of Duchenne muscular dystrophy. Altered Ca2+ handling is a key feature, including increased Ca2+ leak through the ryanodine receptor (RyR1's), the primary Ca2+ release channel in skeletal muscle. Such leak has important downstream consequences for intracellular Ca2+ homeostasis.
Rhayanna B. Gaglianone, Cedric R. Lamboley, Taylor Dick, Aldo Meizoso‐Huesca, Daniel P. Singh, Bradley S. Launikonis   +5 more
wiley   +1 more source

Limb girdle muscular dystrophies: The clinicopathological viewpoint

Annals of Indian Academy of Neurology, 2007
Limb girdle muscular dystrophies (LGMD) are characterized by involvement of the pelvic and shoulder girdles, classically with an onset in the second or third decade and a slow progression as opposed to Duchenne muscular dystrophy. In fact, there are many
Urtizberea J, Leturcq France
doaj  

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

Advanced Intelligent Systems, Volume 8, Issue 5, May 2026.
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

RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice

Molecular Therapy: Nucleic Acids, 2014
Recent progress suggests gene therapy may one day be an option for treating some forms of limb girdle muscular dystrophy (LGMD). Nevertheless, approaches targeting LGMD have so far focused on gene replacement strategies for recessive forms of the disease.
Jian Liu, Lindsay M Wallace, Sara E Garwick-Coppens, Darcée D Sloboda, Carol S Davis, Chady H Hakim, Michael A Hauser, Susan V Brooks, Jerry R Mendell, Scott Q Harper   +9 more
doaj   +1 more source