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Niccolò E Mencacci

Showing results (31-40 of 66) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|November 24, 2022
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related DisorderFrancesca Magrinelli, Clarissa Rocca, Roberto Simone, et al.
Human Mutation|May 5, 2018
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonusJacy L Wagnon, Niccolò E Mencacci, Bryan S Barker, et al.
Neuron|September 16, 2023
Parkinson's disease-linked parkin mutation disrupts recycling of synaptic vesicles in human dopaminergic neuronsPingping Song, Wesley Peng, Veronique Sauve, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 27, 2021
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain StimulationGiovanna Zorzi, Ignacio Juan Keller Sarmiento, Federica Rachele Danti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 19, 2021
Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 VariantNiccolò E Mencacci, Dora Steel, Francesca Magrinelli, et al.
Brain : a Journal of Neurology|September 5, 2020
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disordersNiccolò E Mencacci, Regina Reynolds, Sonia Garcia Ruiz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 5, 2024
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and SeizuresIgnacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 3, 2018
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary choreaVincenzo Salpietro, Belen Perez-Dueñas, Kosuke Nakashima, et al.
Medrxiv : the Preprint Server for Health Sciences|June 6, 2025
Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populationsKathryn Step, Carlos F Hernández, Esraa Eltaraifee, et al.
Parkinsonism & Related Disorders|May 18, 2017
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patientsMiryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, et al.
Pageof 7

Showing results (31-40 of 66) with videos related to

Sort By:
Pageof 7
Movement Disorders : Official Journal of the Movement Disorder Society|November 24, 2022
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related DisorderFrancesca Magrinelli, Clarissa Rocca, Roberto Simone, et al.
Human Mutation|May 5, 2018
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonusJacy L Wagnon, Niccolò E Mencacci, Bryan S Barker, et al.
Neuron|September 16, 2023
Parkinson's disease-linked parkin mutation disrupts recycling of synaptic vesicles in human dopaminergic neuronsPingping Song, Wesley Peng, Veronique Sauve, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 27, 2021
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain StimulationGiovanna Zorzi, Ignacio Juan Keller Sarmiento, Federica Rachele Danti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 19, 2021
Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 VariantNiccolò E Mencacci, Dora Steel, Francesca Magrinelli, et al.
Brain : a Journal of Neurology|September 5, 2020
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disordersNiccolò E Mencacci, Regina Reynolds, Sonia Garcia Ruiz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 5, 2024
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and SeizuresIgnacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 3, 2018
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary choreaVincenzo Salpietro, Belen Perez-Dueñas, Kosuke Nakashima, et al.
Medrxiv : the Preprint Server for Health Sciences|June 6, 2025
Genome-wide assessment identifies novel runs of homozygosity linked to Parkinson's disease etiology across diverse ancestral populationsKathryn Step, Carlos F Hernández, Esraa Eltaraifee, et al.
Parkinsonism & Related Disorders|May 18, 2017
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patientsMiryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, et al.
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