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Alessandra Terracciano

Showing results (31-40 of 49) with videos related to

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Epilepsia|March 28, 2025
Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy geneAngela De Dominicis, Fabrizia Stregapede, Marina Trivisano, et al.
Epilepsia|April 13, 2011
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutationsNicola Specchio, Carla Marini, Alessandra Terracciano, et al.
Neurogenetics|November 26, 2008
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing lossAlessandra Terracciano, Carlo Casali, Gaetano S Grieco, et al.
Epilepsy & Behavior : E&B|September 17, 2023
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental SyndromeMarina Trivisano, Angela De Dominicis, Fabrizia Stregapede, et al.
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.
Journal of Neurology|November 20, 2009
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxiaPia Irene Anna Rossi, Carlotta Maria Vaccari, Alessandra Terracciano, et al.
American Journal of Medical Genetics. Part A|January 31, 2025
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature ReviewAngela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, et al.
Clinical Dysmorphology|March 3, 2022
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotypePaola Sabrina Buonuomo, Gerarda Mastrogiorgio, Paolo Alfieri, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 30, 2011
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in childrenAlessandra Terracciano, Florence Renaldo, Ginevra Zanni, et al.
Clinical Chemistry|September 8, 2011
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disordersGiulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
Epilepsia|March 28, 2025
Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy geneAngela De Dominicis, Fabrizia Stregapede, Marina Trivisano, et al.
Epilepsia|April 13, 2011
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutationsNicola Specchio, Carla Marini, Alessandra Terracciano, et al.
Neurogenetics|November 26, 2008
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing lossAlessandra Terracciano, Carlo Casali, Gaetano S Grieco, et al.
Epilepsy & Behavior : E&B|September 17, 2023
Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental SyndromeMarina Trivisano, Angela De Dominicis, Fabrizia Stregapede, et al.
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.
Journal of Neurology|November 20, 2009
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxiaPia Irene Anna Rossi, Carlotta Maria Vaccari, Alessandra Terracciano, et al.
American Journal of Medical Genetics. Part A|January 31, 2025
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature ReviewAngela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, et al.
Clinical Dysmorphology|March 3, 2022
Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotypePaola Sabrina Buonuomo, Gerarda Mastrogiorgio, Paolo Alfieri, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 30, 2011
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in childrenAlessandra Terracciano, Florence Renaldo, Ginevra Zanni, et al.
Clinical Chemistry|September 8, 2011
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disordersGiulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, et al.
Pageof 5