Concepedia

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

Pasquale Striano, Nicola Specchio, Roberta Biancheri, Natalia Cannelli, Alessandro Simonati, Denise Cassandrini, Andrea Rossi, Claudio Bruno, Lucia Fusco, R. Gaggero,

Epilepsy & Behavior · 2006 · 26 citations · 12 references

DOI

Concepts

References

12

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

Susanna Ranta, Yonghui Zhang, Barbara Ross et al. · Nature Genetics · 1999 · 319 citations

, , +4

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

Susanna Ranta, Meral Topçu, Saara Tegelberg et al. · Human Mutation · 2004 · 99 citations

, , +17

MRI of neuronal ceroid lipofuscinosis

Taina Autti, R. Raininko, S. L. Vanhanen et al. · Neuroradiology · 1996 · 98 citations

, , +6

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

Meral Topçu, Hüseyin Tan, Dilek Yalnızoğlu et al. · PubMed · 2004 · 89 citations

, , +15

Phenotype–genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

Ville Holmberg, Leena Lauronen, Taina Autti et al. · Neurology · 2000 · 84 citations

, , +12