Daniela Concolino

DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy

Rita Barone, Chiara Aiello, Valérie Race et al. · Annals of Neurology · 2012 · 149 citations

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo et al. · The American Journal of Human Genetics · 2009 · 145 citations · Full text

Molecular Diagnostic Techniques, Clericuzio-type Poikiloderma, Medicine +8

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

Renzo Manara, Elena Priante, Marco Grimaldi et al. · Journal of Inherited Metabolic Disease · 2011 · 88 citations

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Rossella Parini, Paola De Lorenzo, Andrea Dardis et al. · Orphanet Journal of Rare Diseases · 2018 · 88 citations · Full text

Early detection of podiatric anomalies in children with Down syndrome

Daniela Concolino, Antonietta Pasquzzi, Giuseppe Capalbo et al. · Acta Paediatrica · 2005 · 73 citations