Matteo Garibaldi | Ricerc@Sapienza

Publications

Title	Published on	Year
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients	ORPHANET JOURNAL OF RARE DISEASES	2017
Novel dominant mutation in BIN1 gene causing mild centronuclear myopathy revealed by myalgias and CK elevation	JOURNAL OF NEUROMUSCULAR DISEASES	2016
Teaching video neuro images. the beevor sign in late-onset pompe disease	NEUROLOGY	2016
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis	CLINICAL GENETICS	2016
Muscle MRI in neutral lipid storage disease (NLSD)	NEUROMUSCULAR DISORDERS	2016
Tubular aggregate myopathy with miosis caused by a novel mutation in ORAI1	NEUROMUSCULAR DISORDERS	2016
LOPED study. looking for an early diagnosis in a late-onset pompe disease high-risk population	JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY	2015
Dropped-head in recessive oculopharyngeal muscular dystrophy	NEUROMUSCULAR DISORDERS	2015
Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation	NEUROMUSCULAR DISORDERS	2015