Results 21 to 30 of about 7,022 (221)

Caveolin‐3 loss linked with the P104L LGMD‐1C mutation modulates skeletal muscle mTORC1 signalling and cholesterol homeostasis

Journal of Cachexia, Sarcopenia and Muscle, 2023
Caveolins are the principal structural components of plasma membrane caveolae. Dominant pathogenic mutations in the muscle‐specific caveolin‐3 (Cav3) gene isoform, such as the limb girdle muscular dystrophy type 1C (LGMD‐1C) P104L mutation, result in ...
D. Shah, Raid B. Nisr, G. Krasteva-Christ, H. Hundal   +3 more
semanticscholar   +1 more source

Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD study

Research Square, 2023
Background The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations.
Amy Doody, Lindsay N. Alfano, J. Díaz-Manera, L. Lowes, T. Mozaffar, Kathy Mathews, C. Weihl, Matthew P. Wicklund, Jeffery Statland, Nicholas E. Johnson   +9 more
semanticscholar   +1 more source

Mitochondrial calcium uptake 1 (MICU1) gene-related myopathy with extrapyramidal signs: A clinico-radiological case report from India

Annals of Indian Academy of Neurology, 2023
Myopathy with extrapyramidal signs (MPXPS) is a rarely reported entity worldwide, manifesting as a muscular dystrophy with movement disorders. It results from mutations in the mitochondrial calcium uptake 1 (MICU1) gene.
Debaleena Mukherjee, Adreesh Mukherjee, Subhadeep Gupta, Souvik Dubey, Alak Pandit   +4 more
doaj   +1 more source

<i>CRPPA</i> exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy. [PDF]

Pediatr Investig
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Luo J, Liu Y, Song D, Yang S, Fu X, Ge L, Wei C, Cui L, Fan Y, Luo H, He Y, Xu J, Shen Q, Guo Y, Kanagawa M, Toda T, Wang J, Zhang H, Xiong H.   +18 more
europepmc   +2 more sources

Enhancing LGMD’s Looming Selectivity for UAV With Spatial–Temporal Distributed Presynaptic Connections

IEEE Transactions on Neural Networks and Learning Systems, 2021
Collision detection is one of the most challenging tasks for unmanned aerial vehicles (UAVs). This is especially true for small or micro-UAVs due to their limited computational power.
Jiannan Zhao, Hongxin Wang, N. Bellotto, Cheng Hu, Jigen Peng, Shigang Yue   +5 more
semanticscholar   +1 more source

Limb–Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study

Muscles, 2023
The present study is the first research that analyzes the quality of life (QoL) of people affected by a dominant form of limb–girdle muscular dystrophy, specifically limb–girdle muscular dystrophy D2 (LGMD-D2).
Alicia Aurora Rodríguez, Imanol Amayra, Irune García, Corrado Angelini   +3 more
doaj   +1 more source

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

Orphanet Journal of Rare Diseases, 2018
Background Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles.
Liang Wang, Victor Wei Zhang, Shaoyuan Li, Huan Li, Yiming Sun, Jing Li, Yuling Zhu, Ruojie He, Jinfu Lin, Cheng Zhang   +9 more
doaj   +1 more source

Redundant neural vision systems: competing for collision recognition roles [PDF]

, 2013
Ability to detect collisions is vital for future robots that interact with humans in complex visual environments. Lobula giant movement detectors (LGMD) and directional selective neurons (DSNs) are two types of identified neurons found in the visual ...
Rind, F. Claire, Yue, Shigang
core   +1 more source

A modified model for the Lobula Giant Movement Detector and its FPGA implementation [PDF]

, 2010
The Lobula Giant Movement Detector (LGMD) is a wide-field visual neuron located in the Lobula layer of the Locust nervous system. The LGMD increases its firing rate in response to both the velocity of an approaching object and the proximity of this ...
Andrew Hunter, Barron, Barth, Bermudez i Badia, Bertozzi, Bertozzi, Blanchard, Blanchard, Colombo, Connolly, Coombs, Cuadri, Cy Pettit, Galbraith, Hongying Meng, Judge, Kofi Appiah, Lazaros, Longuet Higgins, Mervyn Hobden, Meyer, Nedevschi, Nelson, Nigel Priestley, Okuno, Peter Hobden, Polychronopoulos, Rind, Rind, Rind, Rind, Rind, Rind, Sandini, Santer, Santer, Shigang Yue, Yue, Yue, Yue, Yue   +40 more
core   +1 more source

CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related

Human Mutation, 2022
The investigated intronic CAPN3 variant NM_000070.3:c.1746‐20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity.
M. Mroczek, I. Inashkina, J. Stavusis, P. Zayakin, A. Khrunin, I. Micule, Victorija Kenina, A. Ždanoviča, Jana Zídková, L. Fajkusová, S. Limborska, A. J. van der Kooi, E. Brusse, L. Leonardis, A. Maver, S. Pajusalu, K. Õunap, S. Puusepp, P. Dobosz, M. Sypniewski, B. Burnytė, B. Lāce   +21 more
semanticscholar   +1 more source