Publications by authors named "Marianna Bertella"

Duchenne muscular dystrophy (DMD) is an X-linked myopathy caused by mutations, in most cases deletions and duplications, in the dystrophin gene. Point mutations account for 13% and stop codon mutations are even rarer. Ataluren was approved for the treatment of DMD caused by nonsense mutations in 2014, and several clinical trials documented its efficacy and safety.

View Article and Find Full Text PDF

Cancer of the esophagus has an unfavorable prognosis with a five-year survival rate after radical surgery of less than 10%; early diagnosis is difficult. The appearance of symptoms, particulary dysphagia, is due to more than 2/3 tumor involvement of the esophageal circumference, already present in 2/3 of patients at diagnosis. Symptoms can be local and/or systemic; they can be physical, psychic, iatrogenic and evolutive.

View Article and Find Full Text PDF