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Francesco Nicita

Showing results (71-80 of 120) with videos related to

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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 28, 2025
Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-upVito Luigi Colona, Viola Ceccatelli, Alessandra Terracciano, et al.
Frontiers in Genetics|November 16, 2020
A Recurrent Pathogenic Variant of <i>INPP5K</i> Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern ItalyAdele D'Amico, Fabiana Fattori, Francesco Nicita, et al.
Epilepsia|February 23, 2012
Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-upFrancesco Nicita, Martino Ruggieri, Agata Polizzi, et al.
Journal of Medical Genetics|September 11, 2025
Further evidence of <i>RNU4ATAC</i> variants causing Joubert syndrome with skeletal involvementFulvio D'Abrusco, Simone Gana, Enrico Alfei, et al.
Neurogenetics|April 26, 2018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genesLorena Travaglini, Chiara Aiello, Fabrizia Stregapede, et al.
Epilepsia|June 27, 2014
Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsyAlberto Verrotti, Maria Valentina Spartà, Debora Monacelli, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 30, 2013
Evaluation of the basal ganglia in neurofibromatosis type 1Francesco Nicita, Claudio Di Biasi, Saadi Sollaku, et al.
Neurogenetics|February 5, 2013
Natural history of neurofibromatosis type 2 with onset before the age of 1 yearMartino Ruggieri, Anna Lia Gabriele, Agata Polizzi, et al.
Molecular Genetics and Metabolism|December 5, 2025
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypesTiziana Bachetti, Ylenia Vaia, Alice Grossi, et al.
Molecular Genetics and Metabolism|December 6, 2021
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patientsEleonora Mura, Francesco Nicita, Silvia Masnada, et al.
Pageof 12

Showing results (71-80 of 120) with videos related to

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Pageof 12
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 28, 2025
Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-upVito Luigi Colona, Viola Ceccatelli, Alessandra Terracciano, et al.
Frontiers in Genetics|November 16, 2020
A Recurrent Pathogenic Variant of <i>INPP5K</i> Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern ItalyAdele D'Amico, Fabiana Fattori, Francesco Nicita, et al.
Epilepsia|February 23, 2012
Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-upFrancesco Nicita, Martino Ruggieri, Agata Polizzi, et al.
Journal of Medical Genetics|September 11, 2025
Further evidence of <i>RNU4ATAC</i> variants causing Joubert syndrome with skeletal involvementFulvio D'Abrusco, Simone Gana, Enrico Alfei, et al.
Neurogenetics|April 26, 2018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genesLorena Travaglini, Chiara Aiello, Fabrizia Stregapede, et al.
Epilepsia|June 27, 2014
Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsyAlberto Verrotti, Maria Valentina Spartà, Debora Monacelli, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 30, 2013
Evaluation of the basal ganglia in neurofibromatosis type 1Francesco Nicita, Claudio Di Biasi, Saadi Sollaku, et al.
Neurogenetics|February 5, 2013
Natural history of neurofibromatosis type 2 with onset before the age of 1 yearMartino Ruggieri, Anna Lia Gabriele, Agata Polizzi, et al.
Molecular Genetics and Metabolism|December 5, 2025
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypesTiziana Bachetti, Ylenia Vaia, Alice Grossi, et al.
Molecular Genetics and Metabolism|December 6, 2021
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patientsEleonora Mura, Francesco Nicita, Silvia Masnada, et al.
Pageof 12