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JAMA Neurology, ISSN 2168-6149, 05/2018, Volume 75, Issue 5, p. 539
The titin gene (TTN), with its 364 exons, encodes the largest human protein. It gives rise to a dizzying array of alternatively spliced isoforms differentially... 
Alternative splicing | Connectin | Transcription | Cardiac muscle | Exons | Genes | Muscles | Skeletal muscle | Gene sequencing | Proteins | Atrophy | Next-generation sequencing | Isoforms | Genetics | Diagnostic systems
Journal Article
JAMA Neurology, ISSN 2168-6149, 05/2018, Volume 75, Issue 5, pp. 539 - 540
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017
Highlights • The workshop focused on reported and new emerging titinopathies. • NGS have resulted in an exponential increase in identification of TTN... 
Neurology
Journal Article
BioMed Research International, ISSN 2314-6133, 01/2015, Volume 2015
  Transforming growth factor beta 1 (TGFβ1) is a key player in skeletal muscle degenerative and regenerative processes. We previously showed that conditionally... 
Proteins | Studies | Musculoskeletal system | Phosphorylation | Transgenic animals | Rodents | Kinases | Apoptosis
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2014, Volume 24, Issue 4, pp. 289 - 311
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 10/2016, Volume 375, Issue 14, pp. 1355 - 1364
Journal Article
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 11/2014, Volume 124, Issue 11, pp. 4693 - 4708
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 62 - 72
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 29 - 41
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 201 - 216
Journal Article