Paola De Filippi

Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II

A.L.E. Montalvo, Bruno Bembi, Mariarosaria Donnarumma et al. · Human Mutation · 2006 · 126 citations

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy

Giancarlo Parenti, Simona Fecarotta, Giancarlo la Marca et al. · Molecular Therapy · 2014 · 88 citations · Full text

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

Federica Montagnese, Emanuele Barca, Olimpia Musumeci et al. · Journal of Neurology · 2015 · 73 citations

Autoimmune Disease, Immunodeficiencies, Pathogenesis +11

Impaired awareness of movement disorders in Parkinson’s disease

Martina Amanzio, Silvia Monteverdi, Alessandra Giordano et al. · Brain and Cognition · 2009 · 62 citations

Motor Dysfunction, Medicine, Parkinson Disease +9

Genotype-phenotype correlation in Pompe disease, a step forward

Paola De Filippi, Kolsoum Saeidi, Sabrina Ravaglia et al. · Orphanet Journal of Rare Diseases · 2014 · 62 citations · Full text