scholarly journals Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases

2014 ◽  
Vol 23 (15) ◽  
pp. 4125-4133 ◽  
Author(s):  
Maxime Ferreboeuf ◽  
Virginie Mariot ◽  
Denis Furling ◽  
Gillian Butler-Browne ◽  
Vincent Mouly ◽  
...  
Keyword(s):  
Nuclear Protein ◽  
Neuromuscular Diseases

scholarly journals MYOTONIC DYSTROPHIES: GENETICALLY-BASED DISEASES DUE TO TOXIC RNA

2014 ◽  
pp. 5-8
Author(s):  
Carlo Pellicciari
Keyword(s):  
Skeletal Muscles ◽  
Nuclear Protein ◽  
Cell Function ◽  
Muscle Relaxation ◽  
Neuromuscular Diseases ◽  
Basic Research ◽  
Voluntary Contraction ◽  
Duchenne Dystrophy ◽  
Pathogenetic Factor ◽  
Toxic Rna

Myotonic dystrophies (DMs, the second most diffuse forms of muscular dystrophy, after Duchenne dystrophy) are genetically-based degenerative neuromuscular diseases exhibiting widely variable clinical features and characterized by myotonia (i.e., a prolonged contraction of skeletal muscles after short stimulation) and a delayed muscle relaxation after voluntary contraction. There are two form of DMs: the more severe DM1 (or Steinert’s disease), and the milder form DM2. The intranuclear accumulation of expanded RNAs is considered as the pathogenetic factor of DMs: the presence of these RNAs exerts a toxic action on cell function which essentially depends on the ectopic sequestration of nuclear protein factors involved in the processing of transcripts. The aim of this mini-symposium is to describe the genetic and cellular bases of DMs, showing how the results of basic research may provide important clues for both diagnosis and therapy.

Ehlers-Danlos Syndrome, Kyphoscoliotic Type (Formerly Type VI) as Differential Diagnosis to Neuromuscular Diseases

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
M. Schroth ◽  
C. Reihle ◽  
M. Wachowsky ◽  
L. Travan ◽  
M. Buob ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neuromuscular Diseases ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

NEUROMUSCULAR DISEASES: CHILDREN, EPIDEMIOLOGIC, ARGENTINIEN

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
M Perea de Posadas ◽  
M del Carmen
Keyword(s):  
Neuromuscular Diseases

Assessment of the respiratory center output in children with neuromuscular diseases

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
A Hahn ◽  
I Kafadar ◽  
V Busch ◽  
BA Neubauer
Keyword(s):  
Neuromuscular Diseases ◽  
Respiratory Center

Neuromuscular Diseases During Development

1998 ◽  
Vol 55 (6) ◽  
pp. 879-879
Author(s):  
B. S. Russman
Keyword(s):  
Neuromuscular Diseases
Sign in / Sign up

Export Citation Format

Share Document