233 South 10th Street
Suite 309
Philadelphia, PA 19107
(215) 503-9251
Suite 309
Philadelphia, PA 19107
(215) 503-9251
Most Recent Peer-reviewed Publications
- Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23
- Desmin-related myopathy: Clinical, electrophysiological, radiological, neuropathological and genetic studies
- Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy
- A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin
- Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases
- Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin C-terminal α-helical segment
- Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations
- Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy
- Structural and functional analysis of a new desmin variant causing desmin-related myopathy