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Niccolò E Mencacci

Showing results (41-50 of 66) with videos related to

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Brain : a Journal of Neurology|March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystoniaAlessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 11, 2026
Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease EtiologyKathryn Step, Carlos F Hernández, Marzieh Khani, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2019
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort studyMiryam Carecchio, Federica Invernizzi, Paulina Gonzàlez-Latapi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 27, 2023
Genetic Testing in Parkinson's DiseaseGian Pal, Lola Cook, Jeanine Schulze, et al.
Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 13, 2023
International Genetic Testing and Counseling Practices for Parkinson's DiseaseRachel Saunders-Pullman, Deborah Raymond, Roberto A Ortega, et al.
Brain : a Journal of Neurology|May 26, 2026
Is SORL1 a common genetic target across neurodegenerative diseases? A multi-ancestry biobank studyMarzieh Khani, Sheila N Yeboah, Catalina Cerquera-Cleves, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Is <i>SORL1</i> a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessmentMarzieh Khani, Sheila N Yeboah, Catalina Cerquera-Cleves, et al.
American Journal of Human Genetics|April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsNiccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
Ebiomedicine|June 29, 2026
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental featuresElisa Peirano, Laura O'Regan, Philip Harrer, et al.
Pageof 7

Showing results (41-50 of 66) with videos related to

Sort By:
Pageof 7
Brain : a Journal of Neurology|March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystoniaAlessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 11, 2026
Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease EtiologyKathryn Step, Carlos F Hernández, Marzieh Khani, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2019
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort studyMiryam Carecchio, Federica Invernizzi, Paulina Gonzàlez-Latapi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 27, 2023
Genetic Testing in Parkinson's DiseaseGian Pal, Lola Cook, Jeanine Schulze, et al.
Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 13, 2023
International Genetic Testing and Counseling Practices for Parkinson's DiseaseRachel Saunders-Pullman, Deborah Raymond, Roberto A Ortega, et al.
Brain : a Journal of Neurology|May 26, 2026
Is SORL1 a common genetic target across neurodegenerative diseases? A multi-ancestry biobank studyMarzieh Khani, Sheila N Yeboah, Catalina Cerquera-Cleves, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Is <i>SORL1</i> a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessmentMarzieh Khani, Sheila N Yeboah, Catalina Cerquera-Cleves, et al.
American Journal of Human Genetics|April 9, 2016
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal LesionsNiccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, et al.
Ebiomedicine|June 29, 2026
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental featuresElisa Peirano, Laura O'Regan, Philip Harrer, et al.
Pageof 7