Results 1 to 10 of about 1,827 (98)

Enhancing LGMD-based model for collision prediction via binocular structure [PDF]

open access: yesFrontiers in Neuroscience, 2023
IntroductionLobular giant motion detector (LGMD) neurons, renowned for their distinctive response to looming stimuli, inspire the development of visual neural network models for collision prediction.
Yi Zheng   +9 more
doaj   +2 more sources

Health-Related Quality-of-Life Outcomes in Patients with Recessive and Dominant LGMD: A Comparative Cross-Sectional Study

open access: yesMuscles
Limb–girdle muscular dystrophy (LGMD) encompasses a heterogeneous group disease, genetic and phenotypically. There are more than 30 subtypes divided into two groups: autosomal dominant and recessive.
Oscar Martinez   +2 more
exaly   +3 more sources

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene

open access: yesFrontiers in Pediatrics
Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles.
Aysylu Murtazina   +2 more
exaly   +3 more sources

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review

open access: yesArquivos de Neuro-Psiquiatria, 2023
Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes ...
Paulo José Lorenzoni   +8 more
doaj   +1 more source

Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients

open access: yesOrphanet Journal of Rare Diseases, 2023
Background Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis.
Feng Lin   +11 more
doaj   +1 more source

Skeletal Muscle Cells Derived from Induced Pluripotent Stem Cells: A Platform for Limb Girdle Muscular Dystrophies

open access: yesBiomedicines, 2022
Limb girdle muscular dystrophies (LGMD), caused by mutations in 29 different genes, are the fourth most prevalent group of genetic muscle diseases. Although the link between LGMD and its genetic origins has been determined, LGMD still represent an unmet ...
Celine Bruge   +8 more
doaj   +1 more source

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

open access: yesAnnals 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   +4 more
doaj   +1 more source

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

open access: yesMuscles, 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   +3 more
doaj   +1 more source

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

open access: yesOrphanet 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   +9 more
doaj   +1 more source

Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy

open access: yesPhysiological Reports, 2023
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb‐girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles.
Yen‐Lin Chen   +6 more
doaj   +1 more source

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