Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family (492 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753), 2014 Aug; 15(3): 183-188.
Export to BibTeX Export to EndNote
Paper type: Journal Article, Research Support, Non-U. S. Gov'T, Case Reports,
Impact factor: 2.884, 5-year impact factor: 2.552
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84904559734&partnerID=40&md5=a10781211973691a9ea0c4f6c3c48073
Keywords: Mutation, Park20, Parkinson, S Disease, Parkinsonism, Synaptojanin 1, Biperiden, Bromocriptine, Cholinergic Receptor Blocking Agent, Dopamine Transporter, Duloxetine, Genomic Dna, Pramipexole, Adolescent, Adult, Amino Acid Substitution, Article, Autosomal Recessive Disorder, Bradykinesia, Chromosome 21, Clinical Article, Clinical Feature, Consanguineous Marriage, Controlled Study, Dna Flanking Region, Dystonia, Female, Genetic Screening, Haplotype, Homozygote, Human, Italic People, Mild Cognitive Impairment, Mutational Analysis, Myalgia, Neuroimaging, Nuclear Magnetic Resonance Imaging, Nucleotide Sequence, Onset Age, Pedigree, Phenotype, Positron Emission Tomography, Priority Journal, Sibling, Single Nucleotide Polymorphism, Single Photon Emission Computer Tomography, Synj1 Gene, Tonic Clonic Seizure, Tremor, Brain Metabolism, Family Health, Parkinsonian Disorders Diagnosis Genetics Metabolism, Phosphoric Monoester Hydrolases Genetics, Phosphatase, Phosphoinositide 5-Phosphatase, Case Report, Recessive Gene,
Affiliations:
*** IBB - CNR ***
Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, Netherlands
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy
Biostructure and Bioimaging Institute, National Research Council, Naples, Italy
Department of Medicine and Surgery, CEMAND, University of Salerno, Salerno, Italy
Dipartimento di Neuroscienze, Scienze Riproduttive Ed Odontostomatologiche, Universit degli Studi di Napoli Federico II, Via Pansini 5, 80131 Naples, Italy
References:
Bonifati, V., Genetics of Parkinson's disease - State of the art, 2013 (2014) Parkinsonism Relat Disord, 20 (SUPPL. 1), pp. S23-S28. , doi: 10. 1016/S1353-8020 (13) 70009-
Quadri, M., Fang, M., Picillo, M., Olgiati, S., Breedveld, G. J., Graafland, J., Wu, B., Bonifati, V., Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism (2013) Hum Mutat, 34 (9), pp. 1208-1215. , International Parkinsonism Genetics N, doi: 10. 1002/humu. 22373
Krebs, C. E., Karkheiran, S., Powell, J. C., Cao, M., Makarov, V., Darvish, H., Di Paolo, G., Paisan-Ruiz, C., The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures (2013) Hum Mutat, 34 (9), pp. 1200-1207. , doi: 10. 1002/humu. 22372
Varrone, A., Salvatore, E., De Michele, G., Barone, P., Sansone, V., Pellecchia, M. T., Castaldo, I., Filla, A., Reduced Striatal [123I] FP-CIT Binding in SCA2 Patients without Parkinsonism (2004) Annals of Neurology, 55 (3), pp. 426-430. , DOI 10. 1002/ana. 20054
Barrett, J. C., Fry, B., Maller, J., Daly, M. J., Haploview: Analysis and visualization of LD and haplotype maps (2005) Bioinformatics, 21 (2), pp. 263-265. , DOI 10. 1093/bioinformatics/bth457
Bertoli-Avella, A. M., Giroud-Benitez, J. L., Akyol, A., Barbosa, E., Schaap, O., Van Der Linde, H. C., Martignoni, E., Ulucan, H., Novel parkin mutations detected in patients with early-onset Parkinson's disease (2005) Movement Disorders, 20 (4), pp. 424-431. , DOI 10. 1002/mds. 20343
Bruggemann, N., Mitterer, M., Lanthaler, A. J., Djarmati, A., Hagenah, J., Wiegers, K., Winkler, S., Lohmann, K., Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers (2009) Parkinsonism Relat Disord, 15 (6), pp. 425-429. , doi: 10. 1016/j. parkreldis. 2008. 11. 014
Brooks, J., Ding, J., Simon-Sanchez, J., Paisan-Ruiz, C., Singleton, A. B., Scholz, S. W., Parkin and PINK1 mutations in early-onset Parkinson's disease: Comprehensive screening in publicly available cases and control (2009) J Med Genet, 46 (6), pp. 375-381. , doi: 10. 1136/jmg. 2008. 063917
Matta, S., Van Kolen, K., Da Cunha, R., Van Den Bogaart, G., Mandemakers, W., Miskiewicz, K., De Bock, P. J., Verstreken, P., LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosis (2012) Neuron, 75 (6), pp. 1008-1021. , doi: 10. 1016/j. neuron. 2012. 08. 022
Trempe, J. F., Chen, C. X., Grenier, K., Camacho, E. M., Kozlov, G., McPherson, P. S., Gehring, K., Fon, E. A., SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination (2009) Mol Cell, 36 (6), pp. 1034-1047. , doi: 10. 1016/j. molcel. 2009. 11. 021
Ben Gedalya, T., Loeb, V., Israeli, E., Altschuler, Y., Selkoe, D. J., Sharon, R., Alpha-synuclein and polyunsaturated fatty acids promote clathrin-mediated endocytosis and synaptic vesicle recycling (2009) Traffic, 10 (2), pp. 218-234. , doi: 10. 1111/j. 1600-0854. 2008. 00853. x
Nemani, V. M., Lu, W., Berge, V., Nakamura, K., Onoa, B., Lee, M. K., Chaudhry, F. A., Edwards, R. H., Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis (2010) Neuron, 65 (1), pp. 66-79. , doi: 10. 1016/j. neuron. 2009. 12. 023
Vilarino-Guell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Farrer, M. J., VPS35 mutations in Parkinson disease (2011) Am J Hum Genet, 89 (1), pp. 162-167. , doi: 10. 1016/j. ajhg. 2011. 06. 001
Zimprich, A., Benet-Pages, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Strom, T. M., A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease (2011) Am J Hum Genet, 89 (1), pp. 168-175. , doi: 10. 1016/j. ajhg. 2011. 06. 008
Edvardson, S., Cinnamon, Y., Ta-Shma, A., Shaag, A., Yim, Y. I., Zenvirt, S., Jalas, C., Elpeleg, O., A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism (2012) PLoS One, 7 (5), pp. e36458. , doi: 10. 1371/journal. pone. 0036458
Koroglu, C., Baysal, L., Cetinkaya, M., Karasoy, H., Tolun, A., DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability (2013) Parkinsonism Relat Disord, 19 (3), pp. 320-324. , doi: 10. 1016/j. parkreldis. 2012. 11. 006
Krebs, C.E., Karkheiran, S., Powell, J.C., Cao, M., Makarov, V., Darvish, H., Di Paolo, G., Paisan-Ruiz, C., The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures (2013) Hum Mutat, 34 (9), pp. 1200-1207. , doi:10.1002/humu.22372
Barrett, J.C., Fry, B., Maller, J., Daly, M.J., Haploview: Analysis and visualization of LD and haplotype maps (2005) Bioinformatics, 21 (2), pp. 263-265. , DOI 10.1093/bioinformatics/bth457
Bertoli-Avella, A.M., Giroud-Benitez, J.L., Akyol, A., Barbosa, E., Schaap, O., Van Der Linde, H.C., Martignoni, E., Ulucan, H., Novel parkin mutations detected in patients with early-onset Parkinson's disease (2005) Movement Disorders, 20 (4), pp. 424-431. , DOI 10.1002/mds.20343
Trempe, J.F., Chen, C.X., Grenier, K., Camacho, E.M., Kozlov, G., McPherson, P.S., Gehring, K., Fon, E.A., SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination (2009) Mol Cell, 36 (6), pp. 1034-1047. , doi:10.1016/j.molcel.2009.11.021
Nemani, V.M., Lu, W., Berge, V., Nakamura, K., Onoa, B., Lee, M.K., Chaudhry, F.A., Edwards, R.H., Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis (2010) Neuron, 65 (1), pp. 66-79. , doi:10.1016/j.neuron.2009.12.023
Neurogenetics (ISSN: 1364-6745, 1364-6753), 2014 Aug; 15(3): 183-188.
Export to BibTeX Export to EndNote
Paper type: Journal Article, Research Support, Non-U. S. Gov'T, Case Reports,
Impact factor: 2.884, 5-year impact factor: 2.552
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84904559734&partnerID=40&md5=a10781211973691a9ea0c4f6c3c48073
Keywords: Mutation, Park20, Parkinson, S Disease, Parkinsonism, Synaptojanin 1, Biperiden, Bromocriptine, Cholinergic Receptor Blocking Agent, Dopamine Transporter, Duloxetine, Genomic Dna, Pramipexole, Adolescent, Adult, Amino Acid Substitution, Article, Autosomal Recessive Disorder, Bradykinesia, Chromosome 21, Clinical Article, Clinical Feature, Consanguineous Marriage, Controlled Study, Dna Flanking Region, Dystonia, Female, Genetic Screening, Haplotype, Homozygote, Human, Italic People, Mild Cognitive Impairment, Mutational Analysis, Myalgia, Neuroimaging, Nuclear Magnetic Resonance Imaging, Nucleotide Sequence, Onset Age, Pedigree, Phenotype, Positron Emission Tomography, Priority Journal, Sibling, Single Nucleotide Polymorphism, Single Photon Emission Computer Tomography, Synj1 Gene, Tonic Clonic Seizure, Tremor, Brain Metabolism, Family Health, Parkinsonian Disorders Diagnosis Genetics Metabolism, Phosphoric Monoester Hydrolases Genetics, Phosphatase, Phosphoinositide 5-Phosphatase, Case Report, Recessive Gene,
Affiliations:
*** IBB - CNR ***
Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, Netherlands
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy
Biostructure and Bioimaging Institute, National Research Council, Naples, Italy
Department of Medicine and Surgery, CEMAND, University of Salerno, Salerno, Italy
Dipartimento di Neuroscienze, Scienze Riproduttive Ed Odontostomatologiche, Universit degli Studi di Napoli Federico II, Via Pansini 5, 80131 Naples, Italy
References:
Bonifati, V., Genetics of Parkinson's disease - State of the art, 2013 (2014) Parkinsonism Relat Disord, 20 (SUPPL. 1), pp. S23-S28. , doi: 10. 1016/S1353-8020 (13) 70009-
Quadri, M., Fang, M., Picillo, M., Olgiati, S., Breedveld, G. J., Graafland, J., Wu, B., Bonifati, V., Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism (2013) Hum Mutat, 34 (9), pp. 1208-1215. , International Parkinsonism Genetics N, doi: 10. 1002/humu. 22373
Krebs, C. E., Karkheiran, S., Powell, J. C., Cao, M., Makarov, V., Darvish, H., Di Paolo, G., Paisan-Ruiz, C., The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures (2013) Hum Mutat, 34 (9), pp. 1200-1207. , doi: 10. 1002/humu. 22372
Varrone, A., Salvatore, E., De Michele, G., Barone, P., Sansone, V., Pellecchia, M. T., Castaldo, I., Filla, A., Reduced Striatal [123I] FP-CIT Binding in SCA2 Patients without Parkinsonism (2004) Annals of Neurology, 55 (3), pp. 426-430. , DOI 10. 1002/ana. 20054
Barrett, J. C., Fry, B., Maller, J., Daly, M. J., Haploview: Analysis and visualization of LD and haplotype maps (2005) Bioinformatics, 21 (2), pp. 263-265. , DOI 10. 1093/bioinformatics/bth457
Bertoli-Avella, A. M., Giroud-Benitez, J. L., Akyol, A., Barbosa, E., Schaap, O., Van Der Linde, H. C., Martignoni, E., Ulucan, H., Novel parkin mutations detected in patients with early-onset Parkinson's disease (2005) Movement Disorders, 20 (4), pp. 424-431. , DOI 10. 1002/mds. 20343
Bruggemann, N., Mitterer, M., Lanthaler, A. J., Djarmati, A., Hagenah, J., Wiegers, K., Winkler, S., Lohmann, K., Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers (2009) Parkinsonism Relat Disord, 15 (6), pp. 425-429. , doi: 10. 1016/j. parkreldis. 2008. 11. 014
Brooks, J., Ding, J., Simon-Sanchez, J., Paisan-Ruiz, C., Singleton, A. B., Scholz, S. W., Parkin and PINK1 mutations in early-onset Parkinson's disease: Comprehensive screening in publicly available cases and control (2009) J Med Genet, 46 (6), pp. 375-381. , doi: 10. 1136/jmg. 2008. 063917
Matta, S., Van Kolen, K., Da Cunha, R., Van Den Bogaart, G., Mandemakers, W., Miskiewicz, K., De Bock, P. J., Verstreken, P., LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosis (2012) Neuron, 75 (6), pp. 1008-1021. , doi: 10. 1016/j. neuron. 2012. 08. 022
Trempe, J. F., Chen, C. X., Grenier, K., Camacho, E. M., Kozlov, G., McPherson, P. S., Gehring, K., Fon, E. A., SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination (2009) Mol Cell, 36 (6), pp. 1034-1047. , doi: 10. 1016/j. molcel. 2009. 11. 021
Ben Gedalya, T., Loeb, V., Israeli, E., Altschuler, Y., Selkoe, D. J., Sharon, R., Alpha-synuclein and polyunsaturated fatty acids promote clathrin-mediated endocytosis and synaptic vesicle recycling (2009) Traffic, 10 (2), pp. 218-234. , doi: 10. 1111/j. 1600-0854. 2008. 00853. x
Nemani, V. M., Lu, W., Berge, V., Nakamura, K., Onoa, B., Lee, M. K., Chaudhry, F. A., Edwards, R. H., Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis (2010) Neuron, 65 (1), pp. 66-79. , doi: 10. 1016/j. neuron. 2009. 12. 023
Vilarino-Guell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Farrer, M. J., VPS35 mutations in Parkinson disease (2011) Am J Hum Genet, 89 (1), pp. 162-167. , doi: 10. 1016/j. ajhg. 2011. 06. 001
Zimprich, A., Benet-Pages, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Strom, T. M., A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease (2011) Am J Hum Genet, 89 (1), pp. 168-175. , doi: 10. 1016/j. ajhg. 2011. 06. 008
Edvardson, S., Cinnamon, Y., Ta-Shma, A., Shaag, A., Yim, Y. I., Zenvirt, S., Jalas, C., Elpeleg, O., A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism (2012) PLoS One, 7 (5), pp. e36458. , doi: 10. 1371/journal. pone. 0036458
Koroglu, C., Baysal, L., Cetinkaya, M., Karasoy, H., Tolun, A., DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability (2013) Parkinsonism Relat Disord, 19 (3), pp. 320-324. , doi: 10. 1016/j. parkreldis. 2012. 11. 006
Krebs, C.E., Karkheiran, S., Powell, J.C., Cao, M., Makarov, V., Darvish, H., Di Paolo, G., Paisan-Ruiz, C., The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures (2013) Hum Mutat, 34 (9), pp. 1200-1207. , doi:10.1002/humu.22372
Barrett, J.C., Fry, B., Maller, J., Daly, M.J., Haploview: Analysis and visualization of LD and haplotype maps (2005) Bioinformatics, 21 (2), pp. 263-265. , DOI 10.1093/bioinformatics/bth457
Bertoli-Avella, A.M., Giroud-Benitez, J.L., Akyol, A., Barbosa, E., Schaap, O., Van Der Linde, H.C., Martignoni, E., Ulucan, H., Novel parkin mutations detected in patients with early-onset Parkinson's disease (2005) Movement Disorders, 20 (4), pp. 424-431. , DOI 10.1002/mds.20343
Trempe, J.F., Chen, C.X., Grenier, K., Camacho, E.M., Kozlov, G., McPherson, P.S., Gehring, K., Fon, E.A., SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination (2009) Mol Cell, 36 (6), pp. 1034-1047. , doi:10.1016/j.molcel.2009.11.021
Nemani, V.M., Lu, W., Berge, V., Nakamura, K., Onoa, B., Lee, M.K., Chaudhry, F.A., Edwards, R.H., Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis (2010) Neuron, 65 (1), pp. 66-79. , doi:10.1016/j.neuron.2009.12.023
Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family
SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism (PARK20). Two consanguineous families were initially reported (one of Sicilian and one of Iranian origins), with the same SYNJ1 homozygous mutation (c. 773G>A, p. Arg258Gln) segregating with a similar phenotype of early-onset parkinsonism and additional atypical features. Here, we report the identification of the same SYNJ1 homozygous mutation in two affected siblings of a third pedigree. Both siblings had mild developmental psychomotor delay, followed, during the third decade of life, by progressive parkinsonism, dystonia, and mild cognitive impairment. One sibling suffered one episode of generalized seizures. Neuroimaging studies revealed severe nigrostriatal dopaminergic defects, mild striatal and very mild cortical hypometabolism. Treatment with dopamine agonists and anticholinergics resulted in partial improvements. Genetic analyses revealed in both siblings the SYNJ1 homozygous c. 773G>A (p. Arg258Gln) mutation. Haplotype analysis suggests that the mutation has arisen independently in this family and the Sicilian PARK20 family previously described by us, in keeping with the hypothesis of a mutational hot spot. This is the third reported family with autosomal recessive, early-onset parkinsonism associated with the SYNJ1 p. Arg258Gln mutation. This work contributes to the definition of the genetic and clinical aspects of PARK20. This newly recognized form must be considered in the diagnostic work-up of patients with early-onset atypical parkinsonism. The presence of seizures might represent a red flag to suspect PARK20. 2014 Springer-Verlag
SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism (PARK20). Two consanguineous families were initially reported (one of Sicilian and one of Iranian origins), with the same SYNJ1 homozygous mutation (c. 773G>A, p. Arg258Gln) segregating with a similar phenotype of early-onset parkinsonism and additional atypical features. Here, we report the identification of the same SYNJ1 homozygous mutation in two affected siblings of a third pedigree. Both siblings had mild developmental psychomotor delay, followed, during the third decade of life, by progressive parkinsonism, dystonia, and mild cognitive impairment. One sibling suffered one episode of generalized seizures. Neuroimaging studies revealed severe nigrostriatal dopaminergic defects, mild striatal and very mild cortical hypometabolism. Treatment with dopamine agonists and anticholinergics resulted in partial improvements. Genetic analyses revealed in both siblings the SYNJ1 homozygous c. 773G>A (p. Arg258Gln) mutation. Haplotype analysis suggests that the mutation has arisen independently in this family and the Sicilian PARK20 family previously described by us, in keeping with the hypothesis of a mutational hot spot. This is the third reported family with autosomal recessive, early-onset parkinsonism associated with the SYNJ1 p. Arg258Gln mutation. This work contributes to the definition of the genetic and clinical aspects of PARK20. This newly recognized form must be considered in the diagnostic work-up of patients with early-onset atypical parkinsonism. The presence of seizures might represent a red flag to suspect PARK20. 2014 Springer-Verlag
Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family
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Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family
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Impact Factor: 0.894
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Bilo L, Peluso S, Antenora A, De Rosa A, Auletta G, Pappata S, De Michele G
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Greco A, Zannetti A, Coda ARD, Albanese S, Nardelli A, Roca A, Pappata S, Brunetti A, Cuocolo A
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Quadri M, Fang M, Picillo M, Olgiati S, Breedveld Gj Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien Hf Barbosa ER, International Parkinsonism Genetics Network Oostra Ba Barone P, Wang J, Bonifati V
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Erro R, Pappata S, Picillo M, Rocco M, Santangelo G, Barone P, Vitale C
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Erro R, Pappata S, Amboni M, Vicidomini C, Longo K, Santangelo G, Picillo M, Vitale C, Moccia M, Giordano F, Brunetti A, Pellecchia MT, Salvatore M, Barone P
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Sasaki T, Ito H, Kimura Y, Arakawa R, Takano H, Seki C, Kodaka F, Fujie S, Takahata K, Nogami T, Suzuki M, Fujiwara H, Takahashi H, Nakao R, Fukumura T, Varrone A, Halldin C, Nishikawa T, Suhara T
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Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP, Valzania F, Fagioli G, Distefano A, Bagnato A, Feggi L, Anna S, Maria Teresa Rosaria De Cr, Nobili F, Mazzuca N, Baldari S, Eleopra R, Bestetti A, Benti R, Varrone A, Volterrani D, Massa R, Stocchi F, Schillaci O, Dore F, Zibetti M, Castellano G, Battista SG, Giorgetti G
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De Rosa A, Rinaldi C, Tucci T, Pappata S, Rossi F, Morra VB, Faggiano A, Colao A, De Michele G
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Varrone A, Stepanov V, Nakao R, Toth M, Gulyas B, Emond P, Deloye JB, Vercouillie J, Stabin MG, Jonsson C, Guilloteau D, Halldin C
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Striano P, Caranci F, Pappata S, Zara F, Striano S
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Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
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Impact Factor: 3.354
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Varrone A, Halldin C
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Impact Factor: 7.022
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Darcourt J, Booij J, Tatsch K, Varrone A, Borght TV, Kapucu OL, Nagren K, Nobili F, Walker Z, Van Laere K
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Varrone A, Asenbaum S, Vander Borght T, Booij J, Nobili F, Någren K, Darcourt J, Kapucu OL, Tatsch K, Bartenstein P, Van Laere K
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Varrone A, Sjoholm N, Eriksson L, Gulyas B, Halldin C, Farde L
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Varrone A, Steiger C, Schou M, Takano A, Finnema SJ, Guilloteau D, Gulyas B, Halldin C
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Pellecchia MT, Barone PB, Mollica C, Salvatore E, Ianniciello M, Longo K, Varrone A, Vicidomini C, Picillo M, De Michele G, Filla A, Salvatore M, Pappata S
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Varrone A, Sansone V, Pellecchia MT, Amboni M, Salvatore E, De Michele G, Filla A, Barone P, Pappata S, Salvatore M
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Supuran CT, Di Fiore A, De Simone G
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De Simone G, Di Fiore A, Supuran CT
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Pellecchia MT, Varrone A, Annesi G, Amboni M, Cicarelli G, Sansone V, Annesi F, Rocca FE, Vitale C, Pappata S, Quattrone A, Barone P
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Varrone A, Sansone V, Pellecchia MT, Amboni M, Vitale C, Salvatore E, De Michele G, Garavaglia B, Annesi G, Brice A, Pappata S, Barone P, Salvatore M
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Salvatore E, Varrone A, Sansone V, Nolano M, Bruni AC, De Rosa A, Santoro L, Pappata S, Filla A, De Michele G
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Sansone V, Varrone A, Pellecchia MT, Amboni M, Salvatore E, De Michele G, Filla A, Barone P, Pappata S, Salvatore M
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Varrone A, Salvatore E, Sansone V, De Michele G, Filla A, Pappata S, Salvatore M
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Varrone A, Pellecchia MT, Amboni M, Sansone V, Salvatore E, Ghezzi D, Garavaglia B, Brice A, Brunetti A, Bonavita V, De Michele G, Salvatore M, Pappata S, Barone P
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Covelli EM, Brunetti A, Di Lauro A, Sullo P, Mazzarella G, Tedeschi E, Belfiore G
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Varrone A, Salvatore E, De Michele G, Barone P, Sansone V, Pellecchia MT, Castaldo I, Coppola G, Brunetti A, Salvatore M, Pappata S, Filla A
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Ferone D, Lastoria S, Colao A, Varrella P, Cerbone G, Acampa W, Merola B, Salvatore M, Lombardi G
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Miletich RS, Bankiewicz KS, Quarantelli M, Plunkett RJ, Frank J, Kopin IJ, Di Chiro G
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* Nonvascular Parkinsonism in Fabry Disease: Results From Magnetic Resonance and Dopamine Transporter Imaging (19 views)
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Erro R, Landolfi A, D , #xagostino G, Pace L, Picillo M, Scarano M, Cuocolo A, Pappata S, Vitale C, Pellecchia MT, Monteleone P, Barone P
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Carecchio M, Picillo M, Valletta L, Elia AE, Haack TB, Cozzolino A, Vitale A, Garavaglia B, Iuso A, Bagella CF, Pappata S, Barone P, Prokisch H, Romito L, Tiranti V
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Peluso S, Bilo L, Esposito M, Antenora A, De Rosa A, Pappata S, De Michele G
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De Rosa A, Pappata S, Peluso S, Sacca F, Lieto M, Filla A, De Michele G
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Bilo L, Peluso S, Antenora A, De Rosa A, Esposito M, Barbato S, Pappata S, De Michele G
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Pellecchia MT, Picillo M, Santangelo G, Longo K, Moccia M, Erro R, Amboni M, Vitale C, Vicidomini C, Salvatore M, Barone P, Pappata S
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Peluso S, De Rosa A, Antenora A, Lieto M, Criscuolo C, Barbieri F, Pappata S, De Michele G
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Moccia M, Pappata S, Erro R, Picillo M, Vitale C, Amboni M, Longo K, Palladino R, Barone P, Pellecchia MT
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Moccia M, Pappata S, Picillo M, Erro R, Coda ARD, Longo K, Vitale C, Amboni M, Brunetti A, Capo G, Salvatore M, Barone P, Pellecchia MT
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DeRosa A, Carducci C, Carducci C, Peluso S, Lieto M, Mazzella A, Saccà F, Brescia Morra V, Pappata S, Leuzzi V, De Michele G
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Moccia M, Erro R, Montella S, Carotenuto A, Pappata S, Orefice G
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Impact Factor: 0.894
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Bilo L, Peluso S, Antenora A, De Rosa A, Auletta G, Pappata S, De Michele G
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Impact Factor: 3.972
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Greco A, Zannetti A, Coda ARD, Albanese S, Nardelli A, Roca A, Pappata S, Brunetti A, Cuocolo A
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Impact Factor: 5.217
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Quadri M, Fang M, Picillo M, Olgiati S, Breedveld Gj Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappata S, Quarantelli M, Annesi G, Quattrone A, Chien Hf Barbosa ER, International Parkinsonism Genetics Network Oostra Ba Barone P, Wang J, Bonifati V
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Impact Factor: 5.122
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Erro R, Pappata S, Picillo M, Rocco M, Santangelo G, Barone P, Vitale C
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Impact Factor: 8.303
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Erro R, Pappata S, Amboni M, Vicidomini C, Longo K, Santangelo G, Picillo M, Vitale C, Moccia M, Giordano F, Brunetti A, Pellecchia MT, Salvatore M, Barone P
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Impact Factor: 3.274
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Sasaki T, Ito H, Kimura Y, Arakawa R, Takano H, Seki C, Kodaka F, Fujie S, Takahata K, Nogami T, Suzuki M, Fujiwara H, Takahashi H, Nakao R, Fukumura T, Varrone A, Halldin C, Nishikawa T, Suhara T
* Quantification of dopamine transporter in human brain using PET with 18F-FE-PE2I (574 views)
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Impact Factor: 5.774
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Antonini A, Vitale C, Barone P, Cilia R, Righini A, Bonuccelli U, Abbruzzese G, Ramat S, Petrone A, Quatrale R, Marconi R, Ceravolo R, Stefani A, Lopiano L, Zappia M, Capus L, Morgante L, Tamma F, Tinazzi M, Colosimo C, Guerra UP, Valzania F, Fagioli G, Distefano A, Bagnato A, Feggi L, Anna S, Maria Teresa Rosaria De Cr, Nobili F, Mazzuca N, Baldari S, Eleopra R, Bestetti A, Benti R, Varrone A, Volterrani D, Massa R, Stocchi F, Schillaci O, Dore F, Zibetti M, Castellano G, Battista SG, Giorgetti G
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Impact Factor: 3.274
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De Rosa A, Rinaldi C, Tucci T, Pappata S, Rossi F, Morra VB, Faggiano A, Colao A, De Michele G
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Impact Factor: 3.795
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Varrone A, Stepanov V, Nakao R, Toth M, Gulyas B, Emond P, Deloye JB, Vercouillie J, Stabin MG, Jonsson C, Guilloteau D, Halldin C
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Impact Factor: 6.381
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Striano P, Caranci F, Pappata S, Zara F, Striano S
* Hemidystonia in uncontrolled type 2 diabetes mellitus (291 views)
Arch Neurol (ISSN: 1538-3687electronic, 0003-9942linking), 2011 May; 68(5): 674-675.
Impact Factor: 7.584
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Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
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Impact Factor: 3.354
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Varrone A, Halldin C
Molecular imaging of the dopamine transporter (542 views)
J Nucl Med (ISSN: 0161-5505, 1535-5667, 1535-5667electronic), 2010 Sep 1; 51(9): 1331-1334.
Impact Factor: 7.022
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Darcourt J, Booij J, Tatsch K, Varrone A, Borght TV, Kapucu OL, Nagren K, Nobili F, Walker Z, Van Laere K
* EANM procedure guidelines for brain neurotransmission SPECT using 123I-labelled dopamine transporter ligands, version (766 views)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2010 Feb; 37(2): 443-450.
Impact Factor: 5.036
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Varrone A, Asenbaum S, Vander Borght T, Booij J, Nobili F, Någren K, Darcourt J, Kapucu OL, Tatsch K, Bartenstein P, Van Laere K
* EANM procedure guidelines for PET brain imaging using [18F]FDG, version (635 views)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2009 Dec; 36(12): 2103-2110.
Impact Factor: 4.531
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Varrone A, Sjoholm N, Eriksson L, Gulyas B, Halldin C, Farde L
* Advancement in PET quantification using 3D-OP-OSEM point spread function reconstruction with the HRRT (692 views) (PDF 259 views)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2009 Oct; 36(10): 1639-1650.
Impact Factor: 4.531
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Varrone A, Steiger C, Schou M, Takano A, Finnema SJ, Guilloteau D, Gulyas B, Halldin C
* In vitro autoradiography and in vivo evaluation in cynomolgus monkey of [18F]FE-PE2I, a new dopamine transporter PET radioligand (571 views)
Synapse (ISSN: 0887-4476), 2009 Oct; 63(10): 871-880.
Impact Factor: 2.557
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Pellecchia MT, Barone PB, Mollica C, Salvatore E, Ianniciello M, Longo K, Varrone A, Vicidomini C, Picillo M, De Michele G, Filla A, Salvatore M, Pappata S
* Diffusion-weighted imaging in multiple system atrophy: a comparison between clinical subtypes (488 views)
Mov Disord (ISSN: 1531-8257, 0885-3185, 0885-3185linking), 2009 Apr 15; 24(5): 689-696.
Impact Factor: 4.014
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Varrone A, Sansone V, Pellecchia MT, Amboni M, Salvatore E, De Michele G, Filla A, Barone P, Pappata S, Salvatore M
* Comparison between a dual-head and a brain-dedicated SPECT system in the measurement of the loss of dopamine transporters with [123I]FP-CIT (341 views)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2008 Jul; 35(7): 1343-1349.
Impact Factor: 4.532
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Supuran CT, Di Fiore A, De Simone G
* Carbonic anhydrase inhibitors as emerging drugs for the treatment of obesity (569 views)
Expert Opin Emerg Drugsexpert Opinion On Emerging Drugs (ISSN: 1472-8214), 2008 Jun; 13(2): 383-392.
Impact Factor: 3.08
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De Simone G, Di Fiore A, Supuran CT
* Are carbonic anhydrase inhibitors suitable for obtaining antiobesity drugs? (478 views)
Curr Pharm Des Current Pharmaceutical Design (ISSN: 1381-6128, 1873-4286), 2008 Mar; 14(7): 655-660.
Impact Factor: 4.399
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Pellecchia MT, Varrone A, Annesi G, Amboni M, Cicarelli G, Sansone V, Annesi F, Rocca FE, Vitale C, Pappata S, Quattrone A, Barone P
* Parkinsonism and essential tremor in a family with pseudo-dominant inheritance of PARK2: An FP-CIT SPECT study (319 views)
Mov Disord (ISSN: 0885-3185, 1531-8257, 0885-3185linking), 2007 Mar 15; 22(4): 559-563.
Impact Factor: 3.207
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Varrone A, Sansone V, Pellecchia MT, Amboni M, Vitale C, Salvatore E, De Michele G, Garavaglia B, Annesi G, Brice A, Pappata S, Barone P, Salvatore M
* Longitudinal changes of dopamine transporter density in early-onset parkin disease measured with [I-123]FP-CIT SPECT (221 views)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2006 Sep; 33: N/D-N/D.
Impact Factor: 4.041
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Salvatore E, Varrone A, Sansone V, Nolano M, Bruni AC, De Rosa A, Santoro L, Pappata S, Filla A, De Michele G
* Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17 (297 views)
Mov Disord (ISSN: 0885-3185, 1531-8257, 0885-3185linking), 2006 Jun; 21(6): 872-875.
Impact Factor: 3.323
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Sansone V, Varrone A, Pellecchia MT, Amboni M, Salvatore E, De Michele G, Filla A, Barone P, Pappata S, Salvatore M
* Comparison Of A Dual-Headed And A Brain-Dedicated SPECT Camera In The Ability To Measure The Loss Of Dopamine Transporters With [123I]FP-CIT (308 views)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2005 Sep; 32: N/D-N/D.
Impact Factor: 3.883
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Varrone A, Salvatore E, Sansone V, De Michele G, Filla A, Pappata S, Salvatore M
* [123I]FP-CIT SPECT Study Of The Striatal Dopamine Transporter Density In Patients With Idiopathic Late Onset Cerebellar Ataxia And MSA-C (237 views)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2005 Sep; 32: N/D-N/D.
Impact Factor: 3.883
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Varrone A, Pellecchia MT, Amboni M, Sansone V, Salvatore E, Ghezzi D, Garavaglia B, Brice A, Brunetti A, Bonavita V, De Michele G, Salvatore M, Pappata S, Barone P
* Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease (4033 views)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2004 Dec 14; 63(11): 2097-2103.
Impact Factor: 5.973
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Covelli EM, Brunetti A, Di Lauro A, Sullo P, Mazzarella G, Tedeschi E, Belfiore G
* Clinical impact of correlative [123I]-FP-CIT brain imaging and neurological findings in suspect Parkinson's disease (360 views)
Radiol Med (ISSN: 0033-8362, 1826-6983, 1826-6983electronic), 2004 Oct; 108(4): 417-425.
Impact Factor: 1.368
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Varrone A, Salvatore E, De Michele G, Barone P, Sansone V, Pellecchia MT, Castaldo I, Coppola G, Brunetti A, Salvatore M, Pappata S, Filla A
* Reduced Striatal [123I]FP-CIT Binding in SCA2 Patients without Parkinsonism (425 views)
Annals Of Neurology, 2004 Mar; 55(3): 426-430.
Impact Factor: 11.91
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Ferone D, Lastoria S, Colao A, Varrella P, Cerbone G, Acampa W, Merola B, Salvatore M, Lombardi G
Correlation of scintigraphic results using 123I-methoxybenzamide with hormone levels and tumor size response to quinagolide in patients with pituitary adenomas (324 views)
J Clin Endocrinol Metab (ISSN: 0021-972x), 1998 Jan; 83(1): 248-252.
Impact Factor: 5.641
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Miletich RS, Bankiewicz KS, Quarantelli M, Plunkett RJ, Frank J, Kopin IJ, Di Chiro G
MRI detects acute degeneration of the nigrostriatal dopamine system after MPTP exposure in hemiparkinsonian monkeys (335 views)
Ann Neurol (ISSN: 0364-5134), 1994 Jun; 35(6): 689-697.
Impact Factor: 9.513
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45 Records (39 excluding Abstracts).
Total impact factor: 195.782 (167.896 excluding Abstracts).
Total 5 year impact factor: 195.556 (165.904 excluding Abstracts).
Total impact factor: 195.782 (167.896 excluding Abstracts).
Total 5 year impact factor: 195.556 (165.904 excluding Abstracts).
492 views. Last view on Tuesday 25 April 2023, 7:47:59
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