Marina Mora

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Ichizo Nishino, Jin Fu, Kurenai Tanji et al. · Nature · 2000 · 936 citations

Ophthalmology, Medicine, Pathology +3

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

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 824 citations · Full text

Mitochondrial Function, Oxphos Impairment, Genetics +10

Skeletal myogenic potential of human and mouse neural stem cells

Rossella Galli, Ugo Borello, Angela Gritti et al. · Nature Neuroscience · 2000 · 484 citations

Mechanobiology, Regenerative Medicine, Developmental Biology +13

Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

Marina Raffaele di Barletta, Enzo Ricci, Giuliana Galluzzi et al. · The American Journal of Human Genetics · 2000 · 411 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Expression of transforming growth factor-beta 1 in dystrophic patient muscles correlates with fibrosis. Pathogenetic role of a fibrogenic cytokine.

Pia Bernasconi, E Torchiana, Paolo Confalonieri et al. · Journal of Clinical Investigation · 1995 · 290 citations · Full text