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Niccolò E Mencacci

Showing results (51-60 of 66) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|July 30, 2024
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global ScaleJohanna Junker, Lara M Lange, Eva-Juliane Vollstedt, et al.
Medrxiv : the Preprint Server for Health Sciences|March 26, 2024
Understanding monogenic Parkinson's disease at a global scaleJohanna Junker, Lara M Lange, Eva-Juliane Vollstedt, et al.
The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Pathogenic variants in <i>BORCS5</i> Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
Annals of Neurology|November 25, 2020
EIF2AK2 Missense Variants Associated with Early Onset Generalized DystoniaDemy J S Kuipers, Wim Mandemakers, Chin-Song Lu, et al.
Medrxiv : the Preprint Server for Health Sciences|July 17, 2025
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's DiseaseLara M Lange, Zih-Hua Fang, Laurel Screven, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 11, 2025
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's DiseaseLara M Lange, Zih-Hua Fang, Laurel Screven, et al.
Brain : a Journal of Neurology|July 29, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American studyLola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, et al.
Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
PD GENEration: An International Parkinson's Disease Genetic Research StudyKamalini Ghosh Galvelis, Allison A Dilliott, Megan Dini, et al.
The Journal of Clinical Investigation|April 21, 2026
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
Pageof 7

Showing results (51-60 of 66) with videos related to

Sort By:
Pageof 7
Movement Disorders : Official Journal of the Movement Disorder Society|July 30, 2024
Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global ScaleJohanna Junker, Lara M Lange, Eva-Juliane Vollstedt, et al.
Medrxiv : the Preprint Server for Health Sciences|March 26, 2024
Understanding monogenic Parkinson's disease at a global scaleJohanna Junker, Lara M Lange, Eva-Juliane Vollstedt, et al.
The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Pathogenic variants in <i>BORCS5</i> Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
Annals of Neurology|November 25, 2020
EIF2AK2 Missense Variants Associated with Early Onset Generalized DystoniaDemy J S Kuipers, Wim Mandemakers, Chin-Song Lu, et al.
Medrxiv : the Preprint Server for Health Sciences|July 17, 2025
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's DiseaseLara M Lange, Zih-Hua Fang, Laurel Screven, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 11, 2025
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's DiseaseLara M Lange, Zih-Hua Fang, Laurel Screven, et al.
Brain : a Journal of Neurology|July 29, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American studyLola Cook, Jennifer Verbrugge, Tae-Hwi Schwantes-An, et al.
Medrxiv : the Preprint Server for Health Sciences|June 4, 2026
PD GENEration: An International Parkinson's Disease Genetic Research StudyKamalini Ghosh Galvelis, Allison A Dilliott, Megan Dini, et al.
The Journal of Clinical Investigation|April 21, 2026
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
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