Results 1 to 10 of about 13,031,197 (236)
A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease [PDF]
Background Dermatomyositis is an inflammatory muscle disease caused by immune-mediated muscle injury, and central core disease (CCD) is a congenital myopathy associated with disturbed intracellular calcium homeostasis and excitation-contraction coupling.
Min Jung Kim +3 more
doaj +2 more sources
Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease? [PDF]
Central Core Disease (CCD) is a congenital myopathy characterized by presence of amorphous central areas (or cores) lacking glycolytic/oxidative enzymes and mitochondria in skeletal muscle fibers.
Pierpaolo Iodice +12 more
doaj +2 more sources
Central core disease with scoliosis for congenital hip dislocation surgery: An anaesthetic demur [PDF]
Vrushali C Ponde +3 more
doaj +2 more sources
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms. [PDF]
Cotta A +13 more
europepmc +2 more sources
Ankylosing spondylitis and central core disease: case report [PDF]
Ankylosing spondylitis (AS) is an inflammatory disorder of unknown cause that primarily affects the axial skeleton. Neurological manifestations of AS are usually related to spinal deformities.
Rosana Herminia Scola +4 more
doaj +1 more source
Severe coronavirus disease (COVID-19) is accompanied by acute respiratory distress syndrome and pulmonary pathology, and is presented mostly with an inflammatory cytokine release, a dysregulated immune response, a skewed neutrophil/lymphocyte ratio, and ...
Zaigham Abbas Rizvi +16 more
doaj +1 more source
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.
Jungbluth Heinz
doaj +1 more source
Multi-Minicore and Central Core Disease
A genome-wide screening was conducted in a consanguinous Algerian family with 3 children with multicore disease at the Groupe Hospitalier Pitie-Salpetriere, Paris, France, and other centers.
J Gordon Millichap
doaj +1 more source
Congenital RYR1-Associated Myopathies
Investigators from the Children’s Hospital of Philadelphia, NINDS, and other centers in the US and France, report a series of 11 patients with severe neonatal RYR1-associated myopathy confirmed by genetic testing.
J Gordon Millichap
doaj +1 more source
Update and Review of Congenital Myopathies
Congenital myopathies are reviewed by neuropathology researchers in New Delhi, India, and Mainz, Germany.
J Gordon Millichap
doaj +1 more source

