Marina Mora

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

Marco Roos, Domenica Taruscio, Hanns Lochmüller, 2018, European Journal of Human Genetics.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marika Pane, Claudio Bruno, Lucio Santoro, 2018, JAMA neurology.

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Sergio Cocozza, Bertrand Fontaine, Giuseppe De Michele, 1998, Cell.

Partial laminin α2 chain deficiency in a patient with myopathy resembling inclusion body myositis

Davide Pareyson, Marina Mora, D. Pareyson, 2000 .

Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis

Marina Mora, Enzo Ricci, P. Tonali, 2011, Neurological Sciences.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Isabella Moroni, Thomas Voit, Hamid Galehdari, 2017, American journal of human genetics.