Carola Hedberg
Goeteborg, O, Sweden
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
Journal: Journal of neurology
Published: January 05, 2014
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.
Journal: Neuromuscular disorders : NMD
Published: November 29, 2013
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Journal: Brain : a journal of neurology
Published: November 16, 2013
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
Journal: European journal of human genetics : EJHG
Published: June 05, 2013
Hereditary myopathy with early respiratory failure: occurrence in various populations.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: April 23, 2013
Reply to Brodehl et al.
Journal: European journal of human genetics : EJHG
Published: October 04, 2012
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
Journal: Brain : a journal of neurology
Published: May 12, 2012
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
Journal: European journal of human genetics : EJHG
Published: March 08, 2012
Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
Journal: Neuromuscular disorders : NMD
Published: July 05, 2011
Showing 1-9 of 9
Last Updated: 09/26/2026