Niccolo Emanuele Mencacci

  • 1255 Citations
20092021
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Personal profile

Education/Academic qualification

PhD, University College London

… → 2016

MD, University of Milan

… → 2006

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  • 8 Similar Profiles
Mutation Medicine & Life Sciences
Dystonia Medicine & Life Sciences
Chorea Medicine & Life Sciences
Parkinson Disease Medicine & Life Sciences
Movement Disorders Medicine & Life Sciences
Glucosylceramidase Medicine & Life Sciences
Genes Medicine & Life Sciences
Corpus Striatum Medicine & Life Sciences

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Grants 2019 2021

Movement Disorders
Salaries and Fringe Benefits
Financial Management
Research
Costs and Cost Analysis

Research Output 2009 2019

Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” [Brain Dev. 41 (2019) 250–256] (Brain and Development (2019) 41(3) (250–256), (S0387760418304959), (10.1016/j.braindev.2018.10.001))

Iodice, A., Carecchio, M., Zorzi, G., Garavaglia, B., Spagnoli, C., Salerno, G. G., Frattini, D., Mencacci, N. E., Invernizzi, F., Veneziano, L., Mantuano, E., Angriman, M. & Fusco, C., Jan 1 2019, In : Brain and Development.

Research output: Contribution to journalComment/debate

Open Access
Restless Legs Syndrome
Chorea
Brain Diseases
Mutation
Brain

Dystonia; a roadmap is needed for future genetic studies

Gan-Or, Z., Mencacci, N. E. & Nalls, M. A., Jan 1 2019, In : Parkinsonism and Related Disorders. 58, p. 9-11 3 p.

Research output: Contribution to journalEditorial

Dystonia

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

Carecchio, M., Invernizzi, F., Gonzàlez-Latapi, P., Panteghini, C., Zorzi, G., Romito, L., Leuzzi, V., Galosi, S., Reale, C., Zibordi, F., Joseph, A. P., Topf, M., Piano, C., Bentivoglio, A. R., Girotti, F., Morana, P., Morana, B., Kurian, M. A., Garavaglia, B., Mencacci, N. E. & 2 othersLubbe, S. J. & Nardocci, N., Jan 1 2019, In : Movement Disorders.

Research output: Contribution to journalArticle

Dystonia
Cohort Studies
Dystonic Disorders
Intellectual Disability
Mutation
1 Citation (Scopus)
Dystonia
Genes
Myoclonic dystonia
1 Citation (Scopus)

Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy

Balint, B., Charlesworth, G., Stamelou, M., Carr, L., Mencacci, N. E., Wood, N. W. & Bhatia, K. P., Jan 1 2019, In : European Journal of Neurology.

Research output: Contribution to journalArticle

Open Access
Corpus Striatum
Dystonia
Atrophy
Necrosis
Exome