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N. Vanni · SciRah

Researcher profile · Semantic Scholar

N. Vanni

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N. Vanni — researcher profile on SciRah

h-index: 6
Works: 9
Citations: 539

Most-cited papers

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
A. Falace, Fabia Filipello, V. La Padula, N. Vanni +9 more
2010American Journal of Human Genetics157 citations Open access
Semantic Scholar
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance
F. Zara, N. Specchio, P. Striano, A. Robbiano +28 more
2013Epilepsia124 citations Open access
Semantic Scholar
Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy
M. Milh, A. Falace, N. Villeneuve, N. Vanni +8 more
2013Human Mutation124 citations Open access
Semantic Scholar
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy
N. Vanni, Floriana Fruscione, E. Ferlazzo, P. Striano +11 more
2014Annals of Neurology87 citations
Semantic Scholar
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype
L. Licchetta, T. Pippucci, F. Bisulli, G. Cantalupo +9 more
2013Epilepsia25 citations Open access
Semantic Scholar
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis.
E. Ferlazzo, P. Striano, D. Italiano, T. Calarese +5 more
2016Epileptic disorders13 citations
Semantic Scholar
Do regulatory regions matter in FOXG1 duplications?
A. Falace, N. Vanni, Antonello Mallamaci, P. Striano +1 more
2012European Journal of Human Genetics6 citations Open access
Semantic Scholar
Erratum: A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype (Epilepsia (2013) 54 (1298-1306))
L. Licchetta, T. Pippucci, F. Bisulli, G. Cantalupo +9 more
20133 citations Open access
Semantic Scholar
PP2.2 – 2026 Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy
M. Milh, A. Falace, N. Villeneuve, N. Vanni +8 more
20131 citations
Semantic Scholar
Familial infantile myoclonic epilepsy
A. Falace, Fabia Filipello, V. La Padula, N. Vanni +9 more
2020Definitions0 citations Open access
Semantic Scholar

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F. Zara×8
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F. Zara — researcher profile on SciRah
A. Falace×6
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A. Falace — researcher profile on SciRah
P. Striano×6
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