Natalia Cannelli

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis

Chiara Aiello, Alessandro Simonati, Giancarlo Discepoli et al. · Human Mutation · 2009 · 70 citations

Genetics, Pathology, Disease Gene Identification +16

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean

Natalia Cannelli, Denise Cassandrini, Enrico Bertini et al. · Neurogenetics · 2006 · 53 citations

Developmental Biology, Genetics, Novel Mutations +4

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

Natalia Cannelli, Barbara Garavaglia, Alessandro Simonati et al. · Biochemical and Biophysical Research Communications · 2009 · 45 citations

Developmental Biology, Novel Mutations, Pathology +2

Revelation of a Novel <i>CLN5</i> Mutation in Early Juvenile Neuronal Ceroid Lipofuscinosis

Natalia Cannelli, Nardo Nardocci, Denise Cassandrini et al. · Neuropediatrics · 2007 · 43 citations

Genetics, Pathology, Disease Gene Identification +18

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

Pasquale Striano, Nicola Specchio, Roberta Biancheri et al. · Epilepsy & Behavior · 2006 · 26 citations

Neurobiology Of Disease, Neurophysiology, Cln8 Mutations +10