Results 191 to 200 of about 7,022 (221)

Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes

Neuromuscular Disorders, 2006
The sarcoglycanopathies are a group of autosomal recessive limb girdle muscular dystrophies (AR-LGMD 2) characterised by mutations in gene encoding one of the sarcoglycan subunits. Mutations in SGCA, SGCB, SGCG and SGCD genes are associated with LGMD 2D, 2E, 2C and 2F, respectively. We report three Tunisian patients belonging to the same consanguineous
K, Fendri, M, Kefi, F, Hentati, R, Amouri   +3 more
openaire   +2 more sources

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients

Neurogenetics, 2021
K. Polavarapu, Aradhna Mathur, Aditi Joshi, S. Nashi, V. Preethish-Kumar, Mainak Bardhan, Pooja Sharma, Shaista Parveen, Malika Seth, S. Vengalil, T. Chawla, Leena Shingavi, Uzma Shamim, S. Nayak, A. Vivekanand, Ana Töpf, A. Roos, R. Horvath, H. Lochmüller, B. Nandeesh, G. Arunachal, A. Nalini, M. Faruq   +22 more
semanticscholar   +1 more source

O-LGMD: An Opponent Colour LGMD-Based Model for Collision Detection with Thermal Images at Night

International Conference on Artificial Neural Networks, 2022
Yicheng Zhang, Jiannan Zhao, Mu Hua, Hao Luan, Mei Liu, Fang Lei, H. Cuayáhuitl, Shigang Yue   +7 more
semanticscholar   +1 more source

Micro-RNA-206 level is increased in fast evolving transportinopathy (LGMD-D2), calpainopathy (LGMD R-1) and sarcoglycanopathy (LGMD R3-R5)

Journal of the Neurological Sciences, 2021
Corrado Angelini, Valentina Pegoraro
openaire   +1 more source

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

IEEE Transactions on Neural Networks and Learning Systems, 2023
Jiannan Zhao, Hongxin Wang, Nicola Bellotto   +2 more
exaly  

Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.

European journal of paediatric neurology
Murat Yıldırım Kale, Hüseyin Anıl Korkmaz, B. Ozyilmaz, A. Taşkın, E. Boluk   +4 more
semanticscholar   +1 more source

Collision avoidance using a model of the locust LGMD neuron

Robotics and Autonomous Systems, 2000
Paul F M J Verschure
exaly  

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21

European Journal of Human Genetics, 2004
Fernando Kok, Maria Rita Passos-Bueno, Mariz Vainzof   +2 more
exaly  

Collision detection in complex dynamic scenes using an LGMD-based visual neural network with feature enhancement

IEEE Transactions on Neural Networks, 2006
Shigang Yue, F Claire Rind
exaly  

The Caveolin-3 P104L mutation of LGMD-1C leads to disordered glucose metabolism in muscle cells.

Biochemical and Biophysical Research Communications - BBRC, 2017
Yu-Feng Deng, Yi Huang, Wen-sheng Lu, Yuanjie Huang, Jing Xian, H. Wei, Qin Huang   +6 more
semanticscholar   +1 more source