Results 211 to 220 of about 261,565 (352)

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue   +16 more
wiley   +1 more source

Pre- and post-skeletal muscle biopsy quantitative magnetic resonance imaging reveals correlations with histopathological findings. [PDF]

open access: yesEur J Neurol
Güttsches AK   +8 more
europepmc   +1 more source

Comparative analysis of short‐term and long‐term LL‐37‐induced rosacea‐like mouse models: Histopathological features and inflammatory immune responses

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The aim of this study was to improve the long‐term LL‐37 mouse model and compare the disease manifestations and pathophysiology of short‐term and long‐term LL‐37‐induced rosacea‐like models. The results show that the long‐term LL‐37 induced mouse model provides a practical animal model for further study of the pathological mechanism of severe rosacea ...
Yiling Wu   +10 more
wiley   +1 more source

A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity. [PDF]

open access: yesNeuromuscul Disord, 2021
Baty K   +10 more
europepmc   +1 more source

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