Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom
Regional Genetics Unit, Department of Clinical Genetics, Birmingham Women's Hospital, Birmingham, United Kingdom
Department of Neurology, National Taiwan University Hospital, College of Medicine, Taipei, Taiwan
Department of Nuclear Medicine, National Taiwan University Hospital, College of Medicine, Taipei, Taiwan
Instituto Israelita de Ensino e Pesquisa Albert Einstein, Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil
Parkinson's and Movement Disorders Unit, Department of Neurology, Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
Center for Neurodegenerative Diseases, University of Salerno, Fisciano Province of Salerno, Italy
Sobell Department of Motor Science, Institute of Neurology, University College London, London, United Kingdom
Third Department of Neurology, G. Papanikolaou Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece
Neurology Service and Stroke Unit, General Hospital S. Michele AOB G. Brotzu, Cagliari, Italy
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
Division of Movement Disorders, Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina (EPM), São Paulo, São Paulo, Brazil
Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom
Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain
Institute of Biostructure and Bioimaging, CNR, Naples, Italy
Karolinska Institutet, Department of Clinical Neuroscience, Centre for Psychiatry Research, Stockholm, Sweden
Schapira, A.H., Jenner, P., Etiology and pathogenesis of Parkinson's disease (2011) Mov Disord, 26, pp. 1049-1055
Lesage, S., Anheim, M., Condroyer, C., Pollak, P., Durif, F., Large scale screening of the Gaucher's disease related glucocerebrosidas gene in Europeans with Parkinson's disease (2011) Hum Mol Genet, 20, pp. 202-210
Healy, D.G., Falchi, M., O'Sullivan, S.S., Bonifati, V., Durr, A., Phenotype, genotype and worldwide penetrance of LRRK2 -associated Parkinson's disease (2008) Lancet Neurol, 7, pp. 583-590
Warner, T.T., Schapira, A., The role of the alpha-synuclein gene mutation in patients with sporadic Parkinson's disease in the United Kingdom (1998) J Neurol Neurosurg Psych, 65, pp. 378-379
Kitada, T., Tomlinson, J.J., Ao, H.S., Grimes, D.A., Schlossmacher, M.G., Considerations regarding the etiology and future treatment of autosomal recessive versus idiopathic Parkinson's disease (2012) Curr Treat Options Neurol, 14, pp. 230-240
Kägi, G., Klein, C., Wood, N.W., Schneider, S.A., Pramstaller, P.P., Non-motor symptoms in Parkin gene related parkinsonism (2010) Mov Disord, 25, pp. 1279-1284
Farrer, M., Chan, P., Chen, R., Tan, L., Lincoln, S., Lewy bodies and parkinsonism in families with Parkin mutations (2001) Ann Neurol, 50, pp. 293-300
Samaranch, L., Lorenzo-Betancor, O., Arbelo, J., Ferrer, I., Lorenzo, E., PINK1-linked parkinsonism is associated with lewy body pathology (2010) Brain, 133, pp. 1128-1142
Bohnen, N.I., Minoshima, S., FDG-PET and molecular brain imaging in the movement disorders clinic (2012) Neurology, , epub August 22
Plotkin, M., Amthauer, H., Klaffke, S., Kühn, A., Lüdemann, L., Combined 123-I-FP-CIT and 123I-IBZM SPECT for the diagnosis of parkinsonian syndromes: study on 72 patients (2005) J Neural Trans, 112, pp. 677-692
McNeill, A., Duran, R., Mehta, A., Hughes, D., Schapira, A.H., A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers (2012) J Neurol Neurosurg Psych, 83, pp. 853-854
Barsottini, O.G., Felício, A.C., de Aguiar, P.C., Godeiro-Junior, C., Shih, M.C., Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes (2009) Arq Neuropsiquiatr, 67, pp. 7-11
Bostantjopoulou, S., Katsarou, Z., Gerasimou, G., Costa, D.C., Gotzamani-Psarrakou, A., (123)I-FP-CIT SPET striatal uptake in parkinsonian patients with the alpha-synuclein (G209A) mutation (2008) Hell J Nucl Med, 11, pp. 157-159
Varrone, A., Pellecchia, M.T., Amboni, M., Sansone, V., Salvatore, E., Imaging of dopaminergic dysfunction with [123-I]FP-CIT SPECT in early-onset Parkin disease (2004) Neurology, 63, pp. 2097-2103
Sunwoo, M.K., Kim, S.M., Lee, S., Lee, P.H., Parkinsonism associated with glucocerebrosidase mutation (2011) J Clin Neurol, 7, pp. 99-101
Kono, S., Shirakawa, K., Ouchi, Y., Sakamoto, M., Ida, H., Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier (2007) J Neurol Sci, 252, pp. 181-184
Ribeiro, M.J., Thobois, S., Lohmann, E., du Montcel, S.T., Lesage, S., A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations (2009) J Nuc Med, 50, pp. 1244-1250
Khan, N.L., Brooks, D.J., Pavese, N., Sweeney, M.G., Wood, N.W., Progression of nigrostriatal dysfunction in a parkin kindred: an 18F-DOPA-PET and clinical study (2002) Brain, 125, pp. 2248-2256
Pavese, N., Khan, N.L., Scherfler, C., Cohen, L., Brooks, D.J., Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study (2009) Mov Disord, 24, pp. 2260-2266
Weng, Y.H., Chou, Y.H., Wu, W.S., Lin, K.J., Chang, H.C., PINK1 mutation in Taiwanese early-onset Parkinsonism: clinical, genetics, and dopamine transporter studies (2007) J Neurol, pp. 1347-1355
Kessler, K.R., Hamscho, N., Morales, B., Menzel, C., Barrero, F., Dopaminergic function in a family with the PARK6 form of autosomal recessive parkinson's syndrome (2005) J Neural Transm, 112, pp. 1345-1353
Adams, J.R., van Netten, H., Schulzer, M., Mak, E., Mckenzie, J., PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation (2005) Brain, 128, pp. 2777-2785
Isaias, I.U., Benti, R., Goldwurm, S., Zini, M., Cilia, R., Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation (2006) Mov Disord, 21, pp. 1144-1147
Samii, A., Markopoulou, K., Wszolek, Z.K., Sossi, V., Dobko, T., PET studies of parkinsonism associated with mutation in the alpha-synuclein gene (1999) Neurology, 53, pp. 2097-2102
Ahn, T.B., Kim, S.Y., Park, S.S., Park, S.S., Lee, D.S., Alpha-synuclein gene duplication is present in sporadic Parkinson disease (2008) Neurology, 70, pp. 43-49
Nishioka, K., Ross, O.A., Ishii, K., Kachergus, J.M., Ishiwata, K., Expanding the clinical phenotype of SNCA duplication carriers (2009) Mov Disord, 12, pp. 1811-1819
Schapira, A., Tolosa, E., Molecular and clinical prodrome of Parkinson's disease: implications for treatment (2010) Nat Rev Neurol, 6, pp. 309-317
Houlden, H., Singleton, A.B., The genetics and neuropathology of Parkinson's disease (2012) Acta Neuropathol, 124, pp. 325-338
Gegg, M.E., Schapira, A.H., PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis (2011) Autophagy, 7, pp. 243-245
Abramov, A.Y., Gegg, M., Grunewald, A., Wood, N.W., Klein, C., Bioenergetic consequences of PINK1 mutations in Parkinson disease (2011) PLoS One, 6, pp. e25622
Ahmad, B., Chen, Y., Lapidus, L.J., Aggregation of alpha-synuclein is kinetically controlled by intramolecular diffusion (2012) Proc Natl Acad Sci USA, 109, pp. 2336-2341
Gegg, M.E., Burke, D., Heales, S.J., Cooper, J.M., Hardy, J., Glucocerebrosidase activity in substantia nigra of Parkinson's disease brains (2012) Ann Neurol, 72, pp. 455-463
Mazzulli, J.R., Xu, Y.H., Sun, Y., Knight, A.L., McLean, P.J., Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies (2011) Cell, 146, pp. 37-52
Orenstein, S.J., Kuo, S.H., Tasset, I., Arias, E., Koga, H., Interplay of LRRK2 with chaperone-mediated autophagy (2013) Nat Neurosci, 16, pp. 394-406
Lees, A. J., Hardy, J., Resvez, T., Parkinson's disease (2009) Lancet, 373, pp. 2055-206
Schapira, A. H., Jenner, P., Etiology and pathogenesis of Parkinson's disease (2011) Mov Disord, 26, pp. 1049-1055
Healy, D. G., Falchi, M., O'Sullivan, S. S., Bonifati, V., Durr, A., Phenotype, genotype and worldwide penetrance of LRRK2 -associated Parkinson's disease (2008) Lancet Neurol, 7, pp. 583-590
Warner, T. T., Schapira, A., The role of the alpha-synuclein gene mutation in patients with sporadic Parkinson's disease in the United Kingdom (1998) J Neurol Neurosurg Psych, 65, pp. 378-379
K gi, G., Klein, C., Wood, N. W., Schneider, S. A., Pramstaller, P. P., Non-motor symptoms in Parkin gene related parkinsonism (2010) Mov Disord, 25, pp. 1279-1284
Bohnen, N. I., Minoshima, S., FDG-PET and molecular brain imaging in the movement disorders clinic (2012) Neurology, , epub August 22
Barsottini, O. G., Fel cio, A. C., de Aguiar, P. C., Godeiro-Junior, C., Shih, M. C., Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes (2009) Arq Neuropsiquiatr, 67, pp. 7-11
Sunwoo, M. K., Kim, S. M., Lee, S., Lee, P. H., Parkinsonism associated with glucocerebrosidase mutation (2011) J Clin Neurol, 7, pp. 99-101
Ribeiro, M. J., Thobois, S., Lohmann, E., du Montcel, S. T., Lesage, S., A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations (2009) J Nuc Med, 50, pp. 1244-1250
Khan, N. L., Brooks, D. J., Pavese, N., Sweeney, M. G., Wood, N. W., Progression of nigrostriatal dysfunction in a parkin kindred: an 18F-DOPA-PET and clinical study (2002) Brain, 125, pp. 2248-2256
Weng, Y. H., Chou, Y. H., Wu, W. S., Lin, K. J., Chang, H. C., PINK1 mutation in Taiwanese early-onset Parkinsonism: clinical, genetics, and dopamine transporter studies (2007) J Neurol, pp. 1347-1355
Kessler, K. R., Hamscho, N., Morales, B., Menzel, C., Barrero, F., Dopaminergic function in a family with the PARK6 form of autosomal recessive parkinson's syndrome (2005) J Neural Transm, 112, pp. 1345-1353
Adams, J. R., van Netten, H., Schulzer, M., Mak, E., Mckenzie, J., PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation (2005) Brain, 128, pp. 2777-2785
Isaias, I. U., Benti, R., Goldwurm, S., Zini, M., Cilia, R., Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation (2006) Mov Disord, 21, pp. 1144-1147
Ahn, T. B., Kim, S. Y., Park, S. S., Park, S. S., Lee, D. S., Alpha-synuclein gene duplication is present in sporadic Parkinson disease (2008) Neurology, 70, pp. 43-49
Gegg, M. E., Schapira, A. H., PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesis (2011) Autophagy, 7, pp. 243-245
Abramov, A. Y., Gegg, M., Grunewald, A., Wood, N. W., Klein, C., Bioenergetic consequences of PINK1 mutations in Parkinson disease (2011) PLoS One, 6, pp. e25622
Gegg, M. E., Burke, D., Heales, S. J., Cooper, J. M., Hardy, J., Glucocerebrosidase activity in substantia nigra of Parkinson's disease brains (2012) Ann Neurol, 72, pp. 455-463
Mazzulli, J. R., Xu, Y. H., Sun, Y., Knight, A. L., McLean, P. J., Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies (2011) Cell, 146, pp. 37-52
Orenstein, S. J., Kuo, S. H., Tasset, I., Arias, E., Koga, H., Interplay of LRRK2 with chaperone-mediated autophagy (2013) Nat Neurosci, 16, pp. 394-406
Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis