Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes

V. Bonifati, C. F. Rohé, G. J. Breedveld, E. Fabrizio, M. De Mari, C. Tassorelli, A. Tavella, R. Marconi, D. J. Nicholl, H. F. Chien, E. Fincati, G. Abbruzzese, P. Marini, A. De Gaetano, M. W. Horstink, J. A. Maat-Kievit, C. Sampaio, A. Antonini, F. Stocchi, P. MontagnaV. Toni, M. Guidi, A. Dalla Libera, M. Tinazzi, F. De Pandis, G. Fabbrini, S. Goldwurm, A. De Klein, E. Barbosa, L. Lopiano, E. Martignoni, P. Lamberti, N. Vanacore, G. Meco, B. A. Oostra

Research output: Contribution to journalArticle

Abstract

Objective: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (

Original languageEnglish
Pages (from-to)87-95
Number of pages9
JournalNeurology
Volume65
Issue number1
DOIs
Publication statusPublished - Jul 12 2005

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Parkinsonian Disorders
Mutation Rate
Genotype
Phenotype
Mutation
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Bonifati, V., Rohé, C. F., Breedveld, G. J., Fabrizio, E., De Mari, M., Tassorelli, C., ... Oostra, B. A. (2005). Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes. Neurology, 65(1), 87-95. https://doi.org/10.1212/01.wnl.0000167546.39375.82

Early-onset parkinsonism associated with PINK1 mutations : Frequency, genotypes, and phenotypes. / Bonifati, V.; Rohé, C. F.; Breedveld, G. J.; Fabrizio, E.; De Mari, M.; Tassorelli, C.; Tavella, A.; Marconi, R.; Nicholl, D. J.; Chien, H. F.; Fincati, E.; Abbruzzese, G.; Marini, P.; De Gaetano, A.; Horstink, M. W.; Maat-Kievit, J. A.; Sampaio, C.; Antonini, A.; Stocchi, F.; Montagna, P.; Toni, V.; Guidi, M.; Dalla Libera, A.; Tinazzi, M.; De Pandis, F.; Fabbrini, G.; Goldwurm, S.; De Klein, A.; Barbosa, E.; Lopiano, L.; Martignoni, E.; Lamberti, P.; Vanacore, N.; Meco, G.; Oostra, B. A.

In: Neurology, Vol. 65, No. 1, 12.07.2005, p. 87-95.

Research output: Contribution to journalArticle

Bonifati, V, Rohé, CF, Breedveld, GJ, Fabrizio, E, De Mari, M, Tassorelli, C, Tavella, A, Marconi, R, Nicholl, DJ, Chien, HF, Fincati, E, Abbruzzese, G, Marini, P, De Gaetano, A, Horstink, MW, Maat-Kievit, JA, Sampaio, C, Antonini, A, Stocchi, F, Montagna, P, Toni, V, Guidi, M, Dalla Libera, A, Tinazzi, M, De Pandis, F, Fabbrini, G, Goldwurm, S, De Klein, A, Barbosa, E, Lopiano, L, Martignoni, E, Lamberti, P, Vanacore, N, Meco, G & Oostra, BA 2005, 'Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes', Neurology, vol. 65, no. 1, pp. 87-95. https://doi.org/10.1212/01.wnl.0000167546.39375.82
Bonifati, V. ; Rohé, C. F. ; Breedveld, G. J. ; Fabrizio, E. ; De Mari, M. ; Tassorelli, C. ; Tavella, A. ; Marconi, R. ; Nicholl, D. J. ; Chien, H. F. ; Fincati, E. ; Abbruzzese, G. ; Marini, P. ; De Gaetano, A. ; Horstink, M. W. ; Maat-Kievit, J. A. ; Sampaio, C. ; Antonini, A. ; Stocchi, F. ; Montagna, P. ; Toni, V. ; Guidi, M. ; Dalla Libera, A. ; Tinazzi, M. ; De Pandis, F. ; Fabbrini, G. ; Goldwurm, S. ; De Klein, A. ; Barbosa, E. ; Lopiano, L. ; Martignoni, E. ; Lamberti, P. ; Vanacore, N. ; Meco, G. ; Oostra, B. A. / Early-onset parkinsonism associated with PINK1 mutations : Frequency, genotypes, and phenotypes. In: Neurology. 2005 ; Vol. 65, No. 1. pp. 87-95.
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AU - Bonifati, V.

AU - Rohé, C. F.

AU - Breedveld, G. J.

AU - Fabrizio, E.

AU - De Mari, M.

AU - Tassorelli, C.

AU - Tavella, A.

AU - Marconi, R.

AU - Nicholl, D. J.

AU - Chien, H. F.

AU - Fincati, E.

AU - Abbruzzese, G.

AU - Marini, P.

AU - De Gaetano, A.

AU - Horstink, M. W.

AU - Maat-Kievit, J. A.

AU - Sampaio, C.

AU - Antonini, A.

AU - Stocchi, F.

AU - Montagna, P.

AU - Toni, V.

AU - Guidi, M.

AU - Dalla Libera, A.

AU - Tinazzi, M.

AU - De Pandis, F.

AU - Fabbrini, G.

AU - Goldwurm, S.

AU - De Klein, A.

AU - Barbosa, E.

AU - Lopiano, L.

AU - Martignoni, E.

AU - Lamberti, P.

AU - Vanacore, N.

AU - Meco, G.

AU - Oostra, B. A.

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