The importance of fresh frozen section in muscle biopsy for diagnostic purposes
Rino Pattiata, Ikuya Nonaka
openalex +2 more sources
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
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]
Güttsches AK+8 more
europepmc +1 more source
First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease. [PDF]
Cavalli M+5 more
europepmc +1 more source
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
Patient experiences of muscle biopsy in idiopathic inflammatory myopathies: a cross-sectional survey. [PDF]
Sutu B, Maxwell S, Oon S, Ross L, Day J.
europepmc +1 more source
What Every Neuropathologist Needs to Know: The Muscle Biopsy. [PDF]
europepmc +1 more source
What Every Neuropathologist Needs to Know: The Muscle Biopsy. [PDF]
Nix JS, Moore SA.
europepmc +1 more source
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity. [PDF]
Baty K+10 more
europepmc +1 more source