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1.
Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.
J Cell Mol Med
; 28(8): e18122, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38652110
2.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain
; 146(10): 4200-4216, 2023 10 03.
Article
in English
| MEDLINE | ID: mdl-37163662
3.
Muscle Specific Promotors for Gene Therapy - A Comparative Study in Proliferating and Differentiated Cells.
J Neuromuscul Dis
; 10(4): 575-592, 2023.
Article
in English
| MEDLINE | ID: mdl-37270809
4.
Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.
Cells
; 12(9)2023 05 05.
Article
in English
| MEDLINE | ID: mdl-37174721
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