V.B. (Vincenzo) Bonifati, Professor, MD, PhD

I’m Professor in Genetics of Movement Disorders at the Erasmus University Rotterdam. I received my medical degree (MD) and neurology certification from the University of Roma, in Italy. I later moved to the Erasmus MC Rotterdam where I received a PhD in Human Molecular Genetics in 2003 and later established my lab. 

My work led to the discovery of genetic defects underlying several forms of hereditary Parkinson’s disease, parkinsonism, dystonia, and other more rare movement disorders.  
I published more than 240 papers in peer-reviewed journals, and have an H-index of 70. 
My work has been cited more than 22,000 times so far.

My research focuses on the understanding of molecular mechanisms of Parkinson’s disease and other movement disorders such as dystonia, by the identification of disease-causing genes and the characterization of the involved molecular pathways. 

Medical Degree (MD), 1988, Univ. Roma - Sapienza, Italy
Specialization in Clinical Neurology, 1992,  Univ. Roma - Sapienza, Italy
PhD, 2003, Human Molecular Genetics, Erasmus University
Since 2012 – Full Professor, Genetics of Movement Disorders, Erasmus University

Publications

•242 publications indexed in Pubmed

• H-Index 70  (Scopus)

• Total number of citations: >22000

• Most cited work (Bonifati et al., Science 2003) >2400 citations

Selected references

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability. 
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V.
Brain 2023; 146: 1496-1510.

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V.
Ann Neurol 2021; 89: 485-497.

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network, Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V. Annals of Neurology 2016; 79: 244-56.

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset parkinsonism.
Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatà S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER; The International Parkinsonism Genetics Network, Oostra BA, Barone P, Wang J, Bonifati V. 
Human Mutation 2013; 34: 1208-15.

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.
Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V. American Journal of Human Genetics 2012; 90: 467-77.

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. 
Di Fonzo A, Dekker MC, Montagna P, Baruzzi A, Yonova EH, Correia Guedes L, Szczerbinska A, Zhao T, Dubbel-Hulsman LO, Wouters CH, de Graaff E, Oyen WJ, Simons EJ, Breedveld GJ, Oostra BA, Horstink MW, Bonifati V. Neurology 2009; 72: 240-5.

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. 
Di Fonzo A, Rohe CF, Ferreira J, Chien HF, Vacca L, Stocchi F, Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA, Bonifati V. The Lancet 2005; 365: 412-415.

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. 
Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen J, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Science 2003; 299: 256-259.

>10 supervised PhD theses at Erasmus MC

Editor in chief, Parkinsonism & Related Disorders (2018-2023)

Chair, Congress Scientific Program Committee, The International Parkinson and Movement Disorders Society (2020-2021)

Scientific Advisory Board, Stichting Parkinson Fonds, The Netherlands

Vidi Research Grant, ZonMW (2007)

Erasmus Fellowship Grant (2007)

Senior Researcher Award – 16th Int. Congress on Parkinson’s disease and Related Disorders, Berlin (2005)

Prof. Hans Lakke prize, Parkinson Patiënten Vereniging, The Netherlands (2006)

Corresponding member (elected), American Neurological Association (ANA) (2009)

President’s Distinghished Service Award, The Int. Parkinson and Movement Disorder Society (MDS) (2021)

Melvin Yahr Award, The International Association for Parkinsonism and Related Disorders (IAPRD) (2023)