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BRISCA , Giacomo

Last name: BRISCA

First name: Giacomo

2016 (v1)

Publication

Metadata-only

Respiratory pattern in a FSHD pediatric population

TRUCCO, FEDERICA PEDEMONTE, MARINA FIORILLO, CHIARA

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by selective weakness of face and upper arms and girdle. Respiratory involvement in FSHD has been described mainly in the most severely affected patients. In this work we tested the respiratory function by spirometry in 12 patients affected...

Uploaded on: April 14, 2023
2014 (v1)

Publication

Metadata-only

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

FIORILLO, CHIARA BRISCA, GIACOMO MINETTI, CARLO

No description

Uploaded on: April 14, 2023