1993 (v1)
Publication
No description
Uploaded on: October 11, 2023
-
-
2024 (v1)Publication
Limb-girdle muscular dystrophy R3 (LGMDR3), a rare genetic disorder characterized by progressive impairment of the limb, diaphragmatic and respiratory muscles, is caused by loss-of-function mutations in the α-sarcoglycan gene (SGCA) and aggravated by an immune-mediated damage. We previously demonstrated that pharmacological inhibition of the...
Uploaded on: September 7, 2024 -
2013 (v1)Publication
No description
Uploaded on: April 14, 2023 -
2010 (v1)Publication
No description
Uploaded on: April 14, 2023 -
2013 (v1)Publication
No description
Uploaded on: March 27, 2023 -
2019 (v1)Publication
In muscular dystrophies, muscle membrane fragility results in a tissue-specific increase of danger-associated molecular pattern molecules (DAMPs) and infiltration of inflammatory cells. The DAMP extracellular ATP (eATP) released by dying myofibers steadily activates muscle and immune purinergic receptors exerting dual negative effects: a direct...
Uploaded on: April 14, 2023 -
2013 (v1)PublicationSubclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.
No description
Uploaded on: April 14, 2023 -
2012 (v1)Publication
"Hypomyelination and Congenital Cataract", HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the identification of the cell types expressing a...
Uploaded on: March 27, 2023 -
2011 (v1)Publication
No description
Uploaded on: April 14, 2023