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Publications of V. Bonifati
Articles in journal or book chapters
  1. D. G. Healy, M. Falchi, S. S. O'Sullivan, V. Bonifati, A. Durr, S. Bressman, A. Brice, J. Aasly, C. P. Zabetian, S. Goldwurm, J. J. Ferreira, E. Tolosa, D. M. Kay, C. Klein, D. R. Williams, C. Marras, A. E. Lang, Z. K. Wszolek, J. Berciano, A. H. Schapira, T. Lynch, K. P. Bhatia, T. Gasser, A. J. Lees, and N. W. Wood. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol, 7(7):583-90, 2008. Note: International LRRK2 ConsortiumG0400000/United Kingdom Medical Research CouncilK08 NS044138/NS/United States NINDSNS R01-36960/NS/United States NINDSP01AG017216/AG/United States NIAP50NS40256/NS/United States NINDSR01AG015866/AG/United States NIAJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, Non-P.H.S.England. [WWW]


  2. A. Grunewald, G. J. Breedveld, K. Lohmann-Hedrich, C. F. Rohe, I. R. Konig, J. Hagenah, N. Vanacore, G. Meco, A. Antonini, S. Goldwurm, S. Lesage, A. Durr, F. Binkofski, H. Siebner, A. Munchau, A. Brice, B. A. Oostra, C. Klein, and V. Bonifati. Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. Neurogenetics, 8(2):103-9, 2007. Note: Journal ArticleUnited States. [WWW]


  3. M. Sharma, J. C. Mueller, A. Zimprich, P. Lichtner, A. Hofer, P. Leitner, S. Maass, D. Berg, A. Durr, V. Bonifati, G. De Michele, B. Oostra, A. Brice, N. W. Wood, B. Muller-Myhsok, and T. Gasser. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. J Med Genet, 43(7):557-62, 2006. Note: European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD)Journal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Age of Onset, Alcohol Oxidoreductases/*genetics, Chromosome Mapping, Genetic Markers, Germany/epidemiology, Humans, Lod Score, Parkinson Disease/*genetics, Parkinsonian Disorders/*genetics, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Reference Values, Siblings.


  4. M. Martinez, A. Brice, J. R. Vaughan, A. Zimprich, M. M. Breteler, G. Meco, A. Filla, M. J. Farrer, C. Betard, A. Singleton, J. Hardy, G. De Michele, V. Bonifati, B. A. Oostra, T. Gasser, N. W. Wood, and A. Durr. Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet, 136(1):72-4, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited Statesthe official publication of the International Society of Psychiatric Genetics. [WWW] Keyword(s): Alleles, Apolipoprotein E4, Apolipoproteins E/*genetics, Chromosomes, Human, Pair 19/*genetics, Family Health, Gene Frequency, Genotype, Humans, *Linkage (Genetics), Linkage Disequilibrium, Lod Score, Microsatellite Repeats, Parkinson Disease/*genetics, Siblings.


  5. J. Prestel, M. Sharma, P. Leitner, A. Zimprich, J. R. Vaughan, A. Durr, V. Bonifati, G. De Michele, H. A. Hanagasi, M. Farrer, A. Hofer, F. Asmus, G. Volpe, G. Meco, A. Brice, N. W. Wood, B. Muller-Myhsok, and T. Gasser. PARK11 is not linked with Parkinson's disease in European families. Eur J Hum Genet, 13(2):193-7, 2005. Note: European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD)P01 ns40256/ns/nindsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.EnglandEjhg. [WWW] Keyword(s): Chromosomes, Human, Pair 2/*genetics, Europe, European Continental Ancestry Group, Humans, *Lod Score, Parkinson Disease/*genetics.


  6. M. Martinez, A. Brice, J. R. Vaughan, A. Zimprich, M. M. Breteler, G. Meco, A. Filla, M. J. Farrer, C. Betard, J. Hardy, G. De Michele, V. Bonifati, B. Oostra, T. Gasser, N. W. Wood, and A. Durr. Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease. J Med Genet, 41(12):900-7, 2004. Note: French Parkinson's Disease Genetics Study GroupEuropean Consortium on Genetic Susceptibility in Parkinson's DiseaseNs41723-01a1/ns/nindsP01 ns40256/ns/nindsJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.England. [WWW] Keyword(s): Adult, Aged, Aged, 80 and over, Chromosome Mapping, Cohort Studies, Europe, Genetic Predisposition to Disease, Genetic Screening, Genome, Human, Genotype, Humans, *Linkage (Genetics), Lod Score, Microsatellite Repeats/genetics, Middle Aged, Parkinson Disease/*genetics, United States.


  7. V. Bonifati, P. Rizzu, F. Squitieri, E. Krieger, N. Vanacore, J. C. van Swieten, A. Brice, C. M. van Duijn, B. Oostra, G. Meco, and P. Heutink. DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurol Sci, 24(3):159-60, 2003. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tItalyofficial journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. [WWW] Keyword(s): *Chromosomes, Human, Pair 1, DNA Mutational Analysis, Family Health, Humans, Intracellular Signaling Peptides and Proteins, Mutation, Oncogene Proteins/*genetics, Parkinsonian Disorders/*genetics.


  8. V. Bonifati, P. Rizzu, M. J. van Baren, O. Schaap, G. J. Breedveld, E. Krieger, M. C. Dekker, F. Squitieri, P. Ibanez, M. Joosse, J. W. van Dongen, N. Vanacore, J. C. van Swieten, A. Brice, G. Meco, C. M. van Duijn, B. A. Oostra, and P. Heutink. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science, 299(5604):256-9, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Alleles, Amino Acid Sequence, Amino Acid Substitution, Animals, Base Sequence, Brain/metabolism, COS Cells, Cell Nucleus/metabolism, Chromosomes, Human, Pair 1, Cloning, Molecular, Cytoplasm/metabolism, DNA, Complementary, Exons, Genes, Recessive, Humans, Intracellular Signaling Peptides and Proteins, Molecular Sequence Data, *Mutation, Oncogene Proteins/chemistry/*genetics/metabolism, Oxidative Stress, PC12 Cells, Parkinsonian Disorders/*genetics/metabolism, Pedigree, Physical Chromosome Mapping, Point Mutation, Protein Structure, Secondary, Rats, Reverse Transcriptase Polymerase Chain Reaction, Sequence Deletion, Transfection.


  9. P. Ibanez, G. De Michele, V. Bonifati, E. Lohmann, S. Thobois, P. Pollak, Y. Agid, P. Heutink, A. Durr, and A. Brice. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology, 61(10):1429-31, 2003. Note: French Parkinson's Disease Genetics Study GroupNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Child, DNA Mutational Analysis, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, *Mutation, Oncogene Proteins/*genetics, Parkinsonian Disorders/diagnosis/*genetics.


  10. E. Lohmann, M. Periquet, V. Bonifati, N. W. Wood, G. De Michele, A. M. Bonnet, V. Fraix, E. Broussolle, M. W. Horstink, M. Vidailhet, P. Verpillat, T. Gasser, D. Nicholl, H. Teive, S. Raskin, O. Rascol, A. Destee, M. Ruberg, F. Gasparini, G. Meco, Y. Agid, A. Durr, and A. Brice. How much phenotypic variation can be attributed to parkin genotype?. Ann Neurol, 54(2):176-85, 2003. Note: French Parkinson's Disease Genetics Study GroupEuropean Consortium on Genetic Susceptibility in Parkinson's DiseaseNs41723-01a1/ns/nindsJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Antiparkinson Agents/therapeutic use, Disease Progression, Exons/genetics, Female, Genotype, Heterozygote, Humans, Levodopa/therapeutic use, Male, Middle Aged, Mutation/genetics, Mutation, Missense/genetics, Parkinson Disease/drug therapy/*genetics/physiopathology, Phenotype, Ubiquitin-Protein Ligases/*genetics, Variation (Genetics)/*genetics.



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