Grants per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
PhD, Brain Science, University College London
… → 2016
MD, Medicine, University of Milan
… → 2006
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Dive into the research topics where Niccolo Emanuele Mencacci is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Understanding the role of BORCS5 in neuronal lysosomal function and neurodegeneration
Mencacci, N. E. (PD/PI)
National Institute of Neurological Disorders and Stroke
12/1/23 → 11/30/28
Project: Research project
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PD GENEration Genetic Registry
Mencacci, N. E. (PD/PI), Mencacci, N. E. (PD/PI), Mencacci, N. E. (PD/PI), Mencacci, N. E. (PD/PI), Gonzalez Latapi, P. (Co-Investigator), Gonzalez Latapi, P. (Co-Investigator), Gonzalez Latapi, P. (Co-Investigator) & Gonzalez Latapi, P. (Co-Investigator)
7/1/21 → 6/30/26
Project: Research project
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Global Parkinson’s Genetics Program (GP2) –2023 Working Group Co-Lead
Mencacci, N. E. (PD/PI), Mencacci, N. E. (PD/PI) & Mencacci, N. E. (PD/PI)
Michael J. Fox Foundation for Parkinson's Research
1/1/20 → 12/31/25
Project: Research project
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PD GENEration Exemplary Diversity Recruitment Award
Gonzalez Latapi, P. (PD/PI), Larson, D. N. (Co-Investigator) & Mencacci, N. E. (Co-Investigator)
8/1/24 → 2/1/25
Project: Research project
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The Role Of BORCS5 Dysfunction For Dopaminergic Neurons Degeneration
Mencacci, N. E. (PD/PI) & Krainc, D. (Other)
6/30/21 → 6/30/23
Project: Research project
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Novel In-Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4-Aminopyridine
Keller Sarmiento, I. J., Bovenzi, R., Kinsinger, M., Kinsley, L., Bustos, B. I., Krainc, D. & Mencacci, N. E., 2025, (Accepted/In press) In: Movement Disorders.Research output: Contribution to journal › Article › peer-review
Open Access -
A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?
Monje, M. H. G., Blackburn, J. S., Kinsley, L., Krainc, D. & Mencacci, N. E., May 2024, In: Movement Disorders. 39, 5, p. 918-920 3 p.Research output: Contribution to journal › Letter › peer-review
Open Access -
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report
Danti, F. R., Sarmiento, I. J. K., Moloney, P. B., Colangelo, I., Graziola, F., Garavaglia, B., Zorzi, G., Mencacci, N. E. & Lubbe, S. J., Apr 2024, In: Movement Disorders. 39, 4, p. 747-749 3 p.Research output: Contribution to journal › Letter › peer-review
Open Access2 Scopus citations -
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures
Keller Sarmiento, I. J., Bustos, B. I., Blackburn, J., Hac, N. E. F., Ruzhnikov, M., Monroe, M., Levy, R. J., Kinsley, L., Li, M., Silani, V., Lubbe, S. J., Krainc, D. & Mencacci, N. E., Jul 2024, In: Movement Disorders. 39, 7, p. 1231-1236 6 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine
Indelicato, E., Boesch, S., Mencacci, N. E., Ghezzi, D., Prokisch, H., Winkelmann, J. & Zech, M., Jan 2024, In: Movement Disorders. 39, 1, p. 29-35 7 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations