| P50 | author | Thomas Sejersen | Q40760158 |
| P2093 | author name string | Borg K | |
| | Horowitz SH | |
| | Wijsman EM | |
| | Rosen DR | |
| | Sjöberg G | |
| | Saavedra-Matiz CA | |
| P2860 | cites work | A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy | Q24311671 |
| | A dysfunctional desmin mutation in a patient with severe generalized myopathy | Q24313070 |
| | Missense mutations in desmin associated with familial cardiac and skeletal myopathy | Q24322607 |
| | A new technique for the assay of infectivity of human adenovirus 5 DNA | Q27860797 |
| | Intermediate filaments: structure, dynamics, function, and disease | Q29615442 |
| | Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle | Q35792351 |
| | Visualization of longitudinally-oriented intermediate filaments in frozen sections of chicken cardiac muscle by a new staining method | Q36207636 |
| | Regulated expression of vimentin cDNA in cells in the presence and absence of a preexisting vimentin filament network | Q36223423 |
| | Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex | Q36226506 |
| | Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells | Q36665937 |
| | Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments | Q36976715 |
| | Colocalization of nestin and vimentin/desmin in skeletal muscle cells demonstrated by three-dimensional fluorescence digital imaging microscopy | Q39389119 |
| | Desmin-related neuromuscular disorders | Q40416518 |
| | Intermediate filament structure and assembly | Q40883522 |
| | Desmin and vimentin coexist at the periphery of the myofibril Z disc | Q41142942 |
| | Familial desmin-related myopathies and cardiomyopathies--from myopathology to molecular and clinical genetics. 36th European Neuromuscular Center (ENMC)-Sponsored International Workshop 20-22 October, 1995, Naarden, The Netherlands | Q41236769 |
| | The cytoskeleton and disease: genetic disorders of intermediate filaments | Q41291242 |
| | Intermediate filaments and cytoplasmic networking: new connections and more functions | Q41334421 |
| | Intermediate-size filaments: changes in synthesis and distribution in cells of the myogenic and neurogenic lineages | Q47273857 |
| | Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. | Q48059876 |
| P433 | issue | 12 | |
| P921 | main subject | autosomal dominant distal myopathy | Q55785936 |
| P304 | page(s) | 2191-2198 | |
| P577 | publication date | 1999-11-01 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation | |
| P478 | volume | 8 | |