Manuela Seia

Recommendations for the classification of diseases as CFTR-related disorders

Cristina Bombieri, Mireille Claustres, K. De Boeck et al. · Journal of Cystic Fibrosis · 2011 · 413 citations · Full text

Medicine, Chronic Disease, Diagnosis +5

Survival and dementia in <scp> <i>GBA</i> </scp> ‐associated Parkinson's disease: <scp>T</scp> he mutation matters

Roberto Cilia, Sara Tùnesi, Giorgio Marotta et al. · Annals of Neurology · 2016 · 400 citations

Analysis of risk factors for the development of liver disease associated with cystic fibrosis

Carla Colombo, M G Apostolo, Maurizio Ferrari et al. · The Journal of Pediatrics · 1994 · 195 citations

Fibrosis, Hepatology, Liver Physiology +11

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)

D. Degiorgio, Carla Colombo, Manuela Seia et al. · European Journal of Human Genetics · 2007 · 100 citations · Full text

Molecular Characterization, Hepatology, Genetic Disorder +13

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Marcella Neri, Rachele Rossi, Cecilia Trabanelli et al. · Frontiers in Genetics · 2020 · 80 citations · Full text