Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability (699 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6753electronic), 2011 Feb; 12(1): 33-39.
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Paper type: Journal Article, Case Reports, Research Support, Non-U. S. Gov'T
Impact factor: 3.354, 5-year impact factor: 3.355
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-79951557128&partnerID=40&md5=dfe2a997165fd022bfc5c808a220c837
Keywords: Atp13a2, Fbxo7, Movement Disorders, Park15, Parkinsonism, Adenosine Triphosphatase, Cadmium, Levodopa, Manganese, Nickel, Selenium, Adult, Article, Brain Atrophy, Brain Cortex Atrophy, Case Report, Clinical Feature, Cognitive Defect, Enzyme Activity, Gene Mutation, Human, Italy, Loss Of Function Mutation, Mini Mental State Examination, Missense Mutation, Neurologic Examination, Nuclear Magnetic Resonance Imaging, Phenotypic Variation, Priority Journal, Pyramidal Sign, Single Photon Emission Computer Tomography, Transcranial Magnetic Stimulation, Amino Acid Sequence, Amino Acid Substitution, Base Sequence, Dna Mutational Analysis, F-Box Proteins, Female, Recessive, Heterozygote, Homozygote, Molecular Sequence Data, Mutant Proteins, Parkinsonian Disorders, Pedigree, Proton-Translocating Atpases, Sequence Homology, Emission-Computed, Single-Photon, Brain Diagnostic Imaging Pathology , F-Box Proteins Genetics , Movement Disorders Diagnostic Imaging Genetics Pathology , Mutant Proteins Chemistry Genetics , Parkinsonian Disorders Diagnostic Imaging Genetics Pathology , Proton-Translocating Atpases Chemistry Genetics
Affiliations:
*** IBB - CNR ***
Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, Rotterdam 3000 CA, Netherlands
Salvatore Maugeri Foundation, IRCCS-Medical Center of Telese Terme, Telese Terme, Italy
Department of Pediatrics, Second University of Naples, Naples, Italy
Biostructure and Bioimaging Institute, National Research Council, Naples, Italy
Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
References:
Not available.
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6753electronic), 2011 Feb; 12(1): 33-39.
Export to BibTeX Export to EndNote
Paper type: Journal Article, Case Reports, Research Support, Non-U. S. Gov'T
Impact factor: 3.354, 5-year impact factor: 3.355
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-79951557128&partnerID=40&md5=dfe2a997165fd022bfc5c808a220c837
Keywords: Atp13a2, Fbxo7, Movement Disorders, Park15, Parkinsonism, Adenosine Triphosphatase, Cadmium, Levodopa, Manganese, Nickel, Selenium, Adult, Article, Brain Atrophy, Brain Cortex Atrophy, Case Report, Clinical Feature, Cognitive Defect, Enzyme Activity, Gene Mutation, Human, Italy, Loss Of Function Mutation, Mini Mental State Examination, Missense Mutation, Neurologic Examination, Nuclear Magnetic Resonance Imaging, Phenotypic Variation, Priority Journal, Pyramidal Sign, Single Photon Emission Computer Tomography, Transcranial Magnetic Stimulation, Amino Acid Sequence, Amino Acid Substitution, Base Sequence, Dna Mutational Analysis, F-Box Proteins, Female, Recessive, Heterozygote, Homozygote, Molecular Sequence Data, Mutant Proteins, Parkinsonian Disorders, Pedigree, Proton-Translocating Atpases, Sequence Homology, Emission-Computed, Single-Photon, Brain Diagnostic Imaging Pathology , F-Box Proteins Genetics , Movement Disorders Diagnostic Imaging Genetics Pathology , Mutant Proteins Chemistry Genetics , Parkinsonian Disorders Diagnostic Imaging Genetics Pathology , Proton-Translocating Atpases Chemistry Genetics
Affiliations:
*** IBB - CNR ***
Department of Neurological Sciences, University of Naples Federico II, Naples, Italy
Department of Clinical Genetics, Erasmus MC, P.O. Box 2040, Rotterdam 3000 CA, Netherlands
Salvatore Maugeri Foundation, IRCCS-Medical Center of Telese Terme, Telese Terme, Italy
Department of Pediatrics, Second University of Naples, Naples, Italy
Biostructure and Bioimaging Institute, National Research Council, Naples, Italy
Foundation Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
References:
Not available.
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
Mutations in the ATP13A2 (PARK9) and FBXO7 (PARK15) genes are linked to different forms of autosomal recessive juvenile-onset neurodegenerative diseases with overlapping phenotypes, including levodopa-responsive parkinsonism, pyramidal disturbances, cognitive decline, and supranuclear gaze disturbance. However, the associated genotypes and phenotypes are poorly characterized due to the small number of patients described. Here, we report clinical, instrumental, and genetic findings in an Italian family with novel PARK9 and PARK15 mutations. The proband developed a severe progressive phenotype including juvenile-onset parkinsonism, pyramidal disturbances, cognitive decline, and oculomotor abnormalities. On the contrary, his brother only shows mild abnormalities (pyramidal, cognitive, and oculomotor) on the neurological examination at the age of 31 years. These two brothers both carry a novel homozygous PARK9 missense (p.G877R) and a novel heterozygous PARK15 mutation (p.R481C). The PARK9 mutation replaces a crucial residue for the ATPase activity, and is therefore most likely a loss-of-function mutation and disease-causing in homozygous state. The pathogenic significance of the PARK15 single heterozygous mutation remains unclear. In both sibs, DaTSCAN single photon emission computed tomography showed marked nigrostriatal dopaminergic defects, and transcranial magnetic stimulation detected prolonged central motor conduction time. MRI, including T2*-weighted imaging, detected no evidence of brain iron accumulation. This family, the third reported with homozygous PARK9 mutations and the first with mutations in two genes for atypical juvenile parkinsonism, illustrates that PARK9-linked disease might display wide intra-familial clinical variability and milder phenotypes, suggesting the existence of strong, still unknown, modifiers. © 2010 The Author(s).
Mutations in the ATP13A2 (PARK9) and FBXO7 (PARK15) genes are linked to different forms of autosomal recessive juvenile-onset neurodegenerative diseases with overlapping phenotypes, including levodopa-responsive parkinsonism, pyramidal disturbances, cognitive decline, and supranuclear gaze disturbance. However, the associated genotypes and phenotypes are poorly characterized due to the small number of patients described. Here, we report clinical, instrumental, and genetic findings in an Italian family with novel PARK9 and PARK15 mutations. The proband developed a severe progressive phenotype including juvenile-onset parkinsonism, pyramidal disturbances, cognitive decline, and oculomotor abnormalities. On the contrary, his brother only shows mild abnormalities (pyramidal, cognitive, and oculomotor) on the neurological examination at the age of 31 years. These two brothers both carry a novel homozygous PARK9 missense (p.G877R) and a novel heterozygous PARK15 mutation (p.R481C). The PARK9 mutation replaces a crucial residue for the ATPase activity, and is therefore most likely a loss-of-function mutation and disease-causing in homozygous state. The pathogenic significance of the PARK15 single heterozygous mutation remains unclear. In both sibs, DaTSCAN single photon emission computed tomography showed marked nigrostriatal dopaminergic defects, and transcranial magnetic stimulation detected prolonged central motor conduction time. MRI, including T2*-weighted imaging, detected no evidence of brain iron accumulation. This family, the third reported with homozygous PARK9 mutations and the first with mutations in two genes for atypical juvenile parkinsonism, illustrates that PARK9-linked disease might display wide intra-familial clinical variability and milder phenotypes, suggesting the existence of strong, still unknown, modifiers. © 2010 The Author(s).
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
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Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability
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Iaccarino C, Tedeschi E, Rapanà A, Massarelli I, Belfiore G, Quarantelli M, Bellotti A
* Is the distance between mammillary bodies predictive of a thickened third ventricle floor? Clinical article (723 views)
J Neurosurg (ISSN: 0022-3085), 2009; 110(5): 852-857.
Impact Factor: 2.594
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Morra VB, Prinster A, Lanzillo R, Quarantelli M, Vacca G, Mollica C, Schiavone V, Brunetti A, Salvatore E, Alfano B, Orefice G
* Correlation of disease severity and regional brain tissue loss in relapsing-remitting multiple sclerosis: a voxel-based morphometry study in a large population (702 views) (PDF 276 views)
Mult Scler (ISSN: 1352-4585, 1477-0970, 1352-4585linking), 2008 Sep; 14: 45-54.
Impact Factor: 3.312
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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 (624 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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Quarantelli M, Orefice G, Prinster A, Lanzillo R, Salvatore P, Mallica C, Salvatore E, Brunetti A, Alfano B, Morra VB
* Is brain atrophy progression in RR-MS slowed by the association off atorvastatin and interferon beta-1a? Preliminary results from an open-label, randomized, clinical study (574 views)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2008 Mar 11; 70(11): N/D-N/D.
Impact Factor: 7.043
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Barbarulo AM, Pappata S, Puoti G, Prinster A, Grossi D, Cotrufo R, Salvatore M, Trojano L
* Rehabilitation of gesture imitation: a case study with fMRI (1119 views)
Neurocase (ISSN: 1465-3656, 1355-4794), 2008; 14(4): 293-306.
Impact Factor: 0.918
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Tedeschi G, Dinacci D, Lavorgna L, Prinster A, Savettieri G, Quattrone A, Livrea P, Messina C, Reggio A, Servillo G, Bresciamorra V, Orefice G, Paciello M, Brunetti A, Paolillo A, Coniglio G, Bonavita S, Di Costanzo A, Bellacosa A, Valentino P, Quarantelli M, Patti F, Salemi G, Cammarata E, Simone I, Salvatore M, Bonavita V, Alfano B
* Correlation between fatigue and brain atrophy and lesion load in multiple sclerosis patients independent of disability (1146 views) (PDF 309 views)
J Neurol Sci (ISSN: 0022-510x, 0022-510xlinking), 2007 Dec 15; 263(1-2): 15-19.
Impact Factor: 2.315
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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 (720 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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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 (605 views)
Mov Disord (ISSN: 0885-3185, 1531-8257, 0885-3185linking), 2006 Jun; 21(6): 872-875.
Impact Factor: 3.323
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Prinster A, Quarantelli M, Orefice G, Lanzillo R, Brunetti A, Mollica C, Salvatore E, Morra VB, Coppola G, Vacca G, Alfano B, Salvatore M
* Grey matter loss in relapsing-remitting multiple sclerosis: A voxel-based morphometry study (892 views) (PDF 292 views)
Neuroimage (ISSN: 1053-8119, 1053-8119linking), 2006 Feb 1; 29(3): 859-867.
Impact Factor: 5.559
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Cittadini A, Monti MG, Iaccarino G, Di Rella F, Tsichlis PN, Di Gianni A, Strömer H, Sorriento D, Peschle C, Trimarco B, Saccà L, Condorelli G
* Adenoviral gene transfer of Akt enhances myocardial contractility and intracellular calcium handling (2329 views)
Gene Ther (ISSN: 0969-7128, 0969-7128linking), 2006; 13(1): 8-19.
Impact Factor: 4.782
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Pedone E, Saviano M, Bartolucci S, Rossi M, Ausili A, Scire A, Bertoli E, Tanfani F
* Temperature-, SDS-, and pH-induced conformational changes in protein disulfide oxidoreductase from the archaeon Pyrococcus furiosus: A dynamic simulation and fourier transform infrared spectroscopic study (836 views)
J Proteome Res (ISSN: 1535-3893), 2005 Nov; 4(6): 1972-1980.
Impact Factor: 6.901
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Tedeschi G, Lavorgna L, Russo P, Prinster A, Dinacci D, Savettieri G, Quattrone A, Livrea P, Messina C, Reggio A, Bresciamorra V, Orefice G, Paciello M, Brunetti A, Coniglio G, Bonavita S, Di Costanzo A, Bellacosa A, Valentino P, Quarantelli M, Patti F, Salemi G, Cammarata E, Simone IL, Salvatore M, Bonavita V, Alfano B
* Brain atrophy and lesion load in a large population of patients with multiple sclerosis (869 views) (PDF 309 views)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2005 Jul 26; 65(2): 280-285.
Impact Factor: 5.065
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Buffon F, Molko N, Hervé D, Porcher R, Denghien I, Pappata S, Le Bihan D, Bousser MG, Chabriat H
* Longitudinal diffusion changes in cerebral hemispheres after MCA infarcts (729 views)
J Cereb Blood Flow Metab (ISSN: 0271-678x, 0271-678xlinking), 2005 May; 25(5): 641-650.
Impact Factor: 4.786
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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 (687 views)
Radiol Med (ISSN: 0033-8362, 1826-6983, 1826-6983electronic), 2004 Oct; 108(4): 417-425.
Impact Factor: 1.368
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Pedone E, Ren B, Ladenstein R, Rossi M, Bartolucci S
* Functional properties of the protein disulfide oxidoreductase from the archaeon Pyrococcus furiosus - A member of a novel protein family related to protein disulfide-isomerase (717 views)
Eur J Biochem (ISSN: 0014-2956, 0014-2956print), 2004 Sep; 271(16): 3437-3448.
Impact Factor: 3.26
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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 (755 views)
Annals Of Neurology, 2004 Mar; 55(3): 426-430.
Impact Factor: 11.91
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Quarantelli M, Ciarmiello A, Morra VB, Orefice G, Larobina M, Lanzillo R, Schiavone V, Salvatore E, Alfano B, Brunetti A
* Brain tissue volume changes in relapsing-remitting multiple sclerosis: Correlation with lesion load (838 views) (PDF 306 views)
Neuroimage (ISSN: 1053-8119, 1053-8119linking), 2003 Feb; 18(2): 360-366.
Impact Factor: 6.192
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Brunetti A, Postiglione A, Tedeschi E, Ciarmiello A, Quarantelli M, Covelli EM, Milan G, Larobina M, Soricelli A, Sodano A, Alfano B
Measurement of global brain atrophy in Alzheimer's disease with unsupervised segmentation of spin-echo MRI studies (1005 views) (PDF 327 views)
J Magn Reson Imaging (ISSN: 1053-1807, 1522-2586electronic), 2000 Mar; 11(3): 260-266.
Impact Factor: 1.302
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De Michele G, Mainenti PP, Soricelli A, Di Salle F, Salvatore E, Longobardi MR, Postiglione A, Salvatore M, Filla A
Cerebral blood flow in spinocerebellar degenerations: a single photon emission tomography study in 28 patients (510 views)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 1998 Sep; 245(9): 603-608.
Impact Factor: 2.3
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Mansi L, Rambaldi PF, Cuccurullo V, Pecori B, Quarantelli M, Fallanca F, Del Vecchio E
Diagnostic and prognostic role of 99mTc-Tetrofosmin in breast cancer (635 views)
Q J Nucl Med (ISSN: 1124-3937, 1125-0135), 1997 Sep; 41(3): 239-250.
Impact Factor: 2.125
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Bonomo RP, De Flora A, Rizzarelli E, Santoro AM, Tabbì G, Tonetti M
Copper(II) complexes encapsulated in human red blood cells (940 views)
J Chem Res (ISSN: 0162-0134, 1873-3344, 0162-0134print), 1995 Sep; 59(4): 773-784.
Impact Factor: 1.342
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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 (987 views)
Ann Neurol (ISSN: 0364-5134), 1994 Jun; 35(6): 689-697.
Impact Factor: 9.513
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* Nonvascular Parkinsonism in Fabry Disease: Results From Magnetic Resonance and Dopamine Transporter Imaging (212 views)
J Neuropathol Exp Neurol (ISSN: 0022-3069linking), 2021 Apr 16; 80(5): 476-479.
Impact Factor: 2.923
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Pontillo G, Cocozza S, Di Stasi M, Carotenuto A, Paolella C, Cipullo MB, Perillo T, Vola EA, Russo C, Masullo M, Moccia M, Lanzillo R, Tedeschi E, Elefante A, Brescia Morra V, Brunetti A, Quarantelli M, Petracca M
* 2D linear measures of ventricular enlargement may be relevant markers of brain atrophy and long-term disability progression in multiple sclerosis (436 views)
Eur Radiol (ISSN: 0938-7994linking, 1432-1084electronic), 2020 Jul; 30(7): 3813-3822.
Impact Factor: 4.101
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De Michele G, Sorrentino P, Nesti C, Rubegni A, Ruggiero L, Peluso S, Antenora A, Quarantelli M, Filla A, De Michele G, Santorelli FM
* Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome (619 views)
Front Neurol (ISSN: 1664-2295linking, 1664-2295print), 2018 Aug 30; 9(AUG): 728-728.
Impact Factor: 3.508
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Marchitelli R, Aiello M, Cachia A, Quarantelli M, Cavaliere C, Postiglione A, Tedeschi G, Montella P, Milan G, Salvatore M, Salvatore E, Baron JC, Pappata S
* Simultaneous resting-state FDG-PET/fMRI in Alzheimer Disease: Relationship between glucose metabolism and intrinsic activity (1791 views)
Neuroimage (ISSN: 1053-8119linking), 2018 Aug 1; 176: 246-258.
Impact Factor: 5.835
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Jakimovski D, Marr K, Mancini M, Caprio MG, Gandhi S, Bergsland N, Paunkoski I, Hagemeier J, Chandra A, Weinstock-guttman B, Zivadinov R
* Global and regional brain atrophy is associated with low or retrograde facial vein flow in multiple sclerosis (512 views) (PDF 214 views)
Veins And Lymphatics, 2017 Sep; 6: N/D-N/D.
Impact Factor: 1.143
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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
* Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation (691 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753), 2017 Jul; 18(3): 175-178.
Impact Factor: 3.09
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Peluso S, Bilo L, Esposito M, Antenora A, De Rosa A, Pappata S, De Michele G
* Chorea-acanthocytosis without chorea: Expanding the clinical phenotype (641 views)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2017 May 17; 41: 124-126.
Impact Factor: 4.721
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De Rosa A, Pappata S, Peluso S, Sacca F, Lieto M, Filla A, De Michele G
* Pathological laughter as onset symptom in atypical parkinsonisms (470 views)
J Neurol (ISSN: 0340-5354, 1432-1459, 0340-5354print), 2017 Jan; 264(1): 182-184.
Impact Factor: 3.783
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Cocozza S, Pisani A, Olivo G, Saccà F, Ugga L, Riccio E, Migliaccio S, Brescia Morra V, Brunetti A, Quarantelli M, Tedeschi E
* Alterations of functional connectivity of the motor cortex in Fabry disease: An RS-fMRI study (765 views)
Neurology (ISSN: 0028-3878, 1526-632x, 0028-3878linking), 2017; 88(19): 1822-1829.
Impact Factor: 8.055
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Lanzillo R, Quarantelli M, Pozzilli C, Trojano M, Amato MP, Marrosu MG, Francia A, Florio C, Orefice G, Tedeschi G, Bellantonio P, Annunziata P, Grimaldi LM, Comerci M, Brunetti A, Bonavita V, Alfano B, Marini S, Brescia Morra V
* No evidence for an effect on brain atrophy rate of atorvastatin add-on to interferon β1b therapy in relapsing-remitting multiple sclerosis (the ARIANNA study) (1382 views) (PDF 69 views)
Mult Scler (ISSN: 1352-4585, 1477-0970, 1352-4585linking), 2016 Aug; 22(9): 1163-1173.
Impact Factor: 4.84
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Bilo L, Peluso S, Antenora A, De Rosa A, Esposito M, Barbato S, Pappata S, De Michele G
* Parkinsonism in adult-onset Rasmussens's encephalitis: a clinical picture presenting as corticobasal syndrome (484 views)
Int J Neurosci (ISSN: 0020-7454), 2016 Mar; N/D: 1-3.
Impact Factor: 1.75
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Dubbioso R, Ranucci G, Esposito M, Di Dato F, Topa A, Quarantelli M, Matarazzo M, Santoro L, Manganelli F, Iorio R
* Subclinical neurological involvement does not develop if Wilson's disease is treated early (861 views)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2016 Mar; 24: 15-19.
Impact Factor: 4.484
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De Rosa A, Pellegrino T, Pappata S, Lieto M, Bonifati V, Palma V, Topa A, Santoro L, Bilo L, Cuocolo A, De Michele G
* Non-motor symptoms and cardiac innervation in SYNJ1-related parkinsonism (632 views)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2016 Feb; 23: 102-105.
Impact Factor: 4.484
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Barresi V, Spampinato G, Musso N, Trovato Salinaro A, Rizzarelli E, Condorelli DF
* ATOX1 gene silencing increases susceptibility to anticancer therapy based on copper ionophores or chelating drugs (1310 views)
J Chem Res (ISSN: 0162-0134, 1873-3344, 0162-0134print), 2016; 156: 145-152.
Impact Factor: 3.348
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Varrone A, Pappata S, Quarantelli M
* Movement disorders: Focus on Parkinson’s disease and related disorders (813 views)
Pet Ct And Pet Mri In Neurology (ISSN: 9783-3193161479783319316123), 2016; N/D: 103-125.
Impact Factor: 0
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Cocozza S, Sacca F, Cervo A, Marsili A, Russo CV, Giorgio SM, De Michele G, Filla A, Brunetti A, Quarantelli M
* Modifications of resting state networks in spinocerebellar ataxia type two (723 views)
Mov Disord (ISSN: 0885-3185, 1531-8257, 0885-3185linking), 2015 Sep; 30(10): 1382-1390.
Impact Factor: 6.01
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Peluso S, De Rosa A, Antenora A, Lieto M, Criscuolo C, Barbieri F, Pappata S, De Michele G
* Efficacy of dopamine agonist treatment in delayed-onset parkinsonism due to midbrain hemorrhage (560 views)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2015 Feb; 21(2): 156-158.
Impact Factor: 3.794
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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
* Screening for dopa-responsive dystonia in patients with scans without evidence of dopaminergic deficiency (SWEDD) (837 views)
J Neurol (ISSN: 0340-5354, 1432-1459, 0340-5354print), 2014 Nov; 261(11): 2204-2208.
Impact Factor: 3.377
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Moccia M, Erro R, Montella S, Carotenuto A, Pappata S, Orefice G
* Diagnostic challenges of Parkinsonism occurring in multiple sclerosis (518 views)
Acta Neurol Belg (ISSN: 0300-9009), 2014 Oct 12; 115(3): 513-515.
Impact Factor: 0.894
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Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappata S, Quarantelli M, Barone P, De Michele G, Bonifati V
* Park20 Caused By Synj1 Homozygous Arg258gln Mutation In A New Italian Family (764 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6745linking), 2014 Aug; 15(3): 183-188.
Impact Factor: 2.884
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Grossi D, Grossi D, Soricelli A, Ponari M, Salvatore E, Quarantelli M, Prinster A, Trojano L
* Structural Connectivity In A Single Case Of Progressive Prosopagnosia: The Role Of The Right Inferior Longitudinal Fasciculus (777 views)
Cortex (ISSN: 0010-9452, 0010-9452linking), 2014 Jul; 56: 111-120.
Impact Factor: 5.128
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Lanzillo R, Quarantelli M, Veria V, Orefice G, Marrosu MG, Trojano M, Amato MP, Francia AM, Florio C, Tedeschi G, Bellantonio P, Annunziata P, Comerci M, Brunetti A, Bonavita V, Alfano B, Marini S, Pozzilli C, Morra VB
* Brain atrophy in relapsing-remitting multiple sclerosis patients treated with interferon-beta and atorvastatin (The ARIANNA study) (630 views)
Eur J Neurol (ISSN: 1351-5101, 1468-1331electronic, 1351-5101linking), 2014 May; 119: 58-58.
Impact Factor: 4.055
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Salvatore E, Tedeschi E, Mollica C, Vicidomini C, Varrone A, Coda ARD, Brunetti A, Salvatore M, De Michele G, Filla A, Pappata S
* Supratentorial and infratentorial damage in spinocerebellar ataxia 2: a diffusion-weighted MRI study (687 views)
Mov Disord (ISSN: 0885-3185, 1531-8257, 0885-3185linking), 2014 May; 29(6): 780-786.
Impact Factor: 5.68
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Bilo L, Peluso S, Antenora A, De Rosa A, Auletta G, Pappata S, De Michele G
* Parkinsonism may be part of the symptom complex of DOOR syndrome (509 views)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2014 Apr; 20(4): 463-465.
Impact Factor: 3.972
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Lanzillo R, Quarantelli M, Veria V, Orefice G, Marrosu MG, Trojano M, Amato MP, Francia AM, Florio C, Tedeschi G, Bellantonio P, Annunziata P, Comerci M, Brunetti A, Bonavita V, Alfano B, Marini S, Pozzilli C, Morra VB
* Brain atrophy in relapsing-remitting multiple sclerosis patients treated with interferon-beta and atorvastatin (The ARIANNA study) (255 views)
J Neurol (ISSN: 0340-5354, 1432-1459, 0340-5354print), 2014; 140: S43-S43.
Impact Factor: 3.853
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Quarantelli M, Palladino O, Prinster A, Schiavone V, Carotenuto B, Brunetti A, Marsili A, Casiello M, Muscettola G, Salvatore M, De Bartolomeis A
* Patients with poor response to antipsychotics have a more severe pattern of frontal atrophy: a voxel-based morphometry study of treatment resistance in schizophrenia (741 views)
Biomed Res Int (ISSN: 2314-6133, 2314-6141, 2314-6141electronic), 2014; 2014: 325052-325052.
Impact Factor: 1.579
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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
* Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism (799 views)
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2013 Sep; 34(9): 1208-1215.
Impact Factor: 5.122
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Quarantelli M, Salvatore E, Giorgio SM, Filla A, Cervo A, Russo CV, Cocozza S, Massarelli M, Brunetti A, De Michele G
* Default-mode network changes in Huntington's disease: an integrated MRI study of functional connectivity and morphometry (1465 views)
Plosone (ISSN: 1932-6203, 1932-6203electronic, 1932-6203linking), 2013 Aug 19; 8(8): e72159-e72159.
Impact Factor: 3.534
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Erro R, Pappata S, Barone P, Pellecchia MT
* Comment on di Giuda et al.: Dopaminergic dysfunction and psychiatric symptoms in movement disorders: A 123I-FP-CIT SPECT study (709 views)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2013 Apr; 40(4): 636-637.
Impact Factor: 5.217
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Erro R, Pappata S, Picillo M, Rocco M, Santangelo G, Barone P, Vitale C
* Teaching NeuroImages: Pseudo-abnormal DaTscan findings in meningioma-induced parkinsonism (570 views)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2013 Mar 26; 80(13): e147-e147.
Impact Factor: 8.303
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Bartolucci S, Contursi P, Fiorentino G, Limauro D, Pedone E
* Responding to toxic compounds: a genomic and functional overview of Archaea (1239 views)
Frontiers In Bioscience (ISSN: 1093-9946, 1093-4715), 2013 Jan 1; 18: 165-189.
Impact Factor: 4.249
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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
* The relationship between cerebral vascular disease and parkinsonism: The VADO study (917 views)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2012; 18(6): 775-780.
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
* Co-existence of primary hyperparathyroidism and Parkinson's disease in three patients: An incidental finding? (907 views)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2011 Dec; 17(10): 771-773.
Impact Factor: 3.795
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Fragassi NA, Chiacchio L, Errichiello L, Pappata S, Tedeschi MR, Striano P, Striano S
* Posterior cortical atrophy with prominent alexia without agraphia in a Tourette syndrome (752 views)
Neurol Sci (ISSN: 1590-1874, 1590-3478, 1590-1874linking), 2011 Dec; 32(6): 1129-1133.
Impact Factor: 1.315
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Erro R, Amboni M, Vitale C, Longo K, Rocco M, Russo C, Pappata S, Brunetti A, Barone P
* The "eye of the tiger" sign in pure akinesia with gait freezing (548 views) (PDF 279 views)
Neurol Sci (ISSN: 1590-1874, 1590-3478, 1590-1874linking), 2011 Sep; 32(4): 703-705.
Impact Factor: 1.315
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Dinacci D, Tessitore A, Russo AA, De Bonis ML, Lavorgna L, Picconi O, Sacco R, Bonavita S, Gallo A, Servillo G, Marcuccio L, Comerci M, Galletti P, Alfano B, Tedeschi G
* BDNF Val66Met polymorphism and brain volumes in multiple sclerosis (740 views) (PDF 300 views)
Neurol Sci (ISSN: 1590-1874, 1590-3478, 1590-1874linking), 2011 Feb; 32(1): 117-123.
Impact Factor: 1.315
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Varrone A, Halldin C
Molecular imaging of the dopamine transporter (788 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 (1674 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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Prinster A, Quarantelli M, Lanzillo R, Orefice G, Vacca G, Carotenuto B, Alfano B, Brunetti A, Brescia Morra V, Salvatore M
* A voxel-based morphometry study of disease severity correlates in relapsing- remitting multiple sclerosis (1206 views) (PDF 276 views)
Mult Scler (ISSN: 1352-4585, 1477-0970, 1352-4585linking), 2010 Jan; 16(1): 45-54.
Impact Factor: 4.23
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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 (1565 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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Iaccarino C, Tedeschi E, Rapanà A, Massarelli I, Belfiore G, Quarantelli M, Bellotti A
* Is the distance between mammillary bodies predictive of a thickened third ventricle floor? (641 views)
J Neurosurg (ISSN: 0022-3085, 0022-3085linking), 2009 May; 110(5): 852-857.
Impact Factor: 2.594
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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 (1138 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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Tedeschi G, Dinacci D, Comerci M, Lavorgna L, Savettieri G, Quattrone A, Livrea P, Patti F, Morra VB, Servillo G, Orefice G, Paciello M, Prinster A, Coniglio G, Bonavita S, Di Costanzo A, Bellacosa A, Valentino P, Quarantelli M, Brunetti A, Salemi G, D , #xamelio M, Simone I, Salvatore M, Bonavita V, Alfano B
* Brain atrophy evolution and lesion load accrual in multiple sclerosis: a 2-year follow-up study (717 views) (PDF 320 views)
Mult Scler (ISSN: 1352-4585, 1477-0970, 1352-4585linking), 2009 Feb; 15(2): 204-211.
Impact Factor: 3.279
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Iaccarino C, Tedeschi E, Rapanà A, Massarelli I, Belfiore G, Quarantelli M, Bellotti A
* Is the distance between mammillary bodies predictive of a thickened third ventricle floor? Clinical article (723 views)
J Neurosurg (ISSN: 0022-3085), 2009; 110(5): 852-857.
Impact Factor: 2.594
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Morra VB, Prinster A, Lanzillo R, Quarantelli M, Vacca G, Mollica C, Schiavone V, Brunetti A, Salvatore E, Alfano B, Orefice G
* Correlation of disease severity and regional brain tissue loss in relapsing-remitting multiple sclerosis: a voxel-based morphometry study in a large population (702 views) (PDF 276 views)
Mult Scler (ISSN: 1352-4585, 1477-0970, 1352-4585linking), 2008 Sep; 14: 45-54.
Impact Factor: 3.312
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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 (624 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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Quarantelli M, Orefice G, Prinster A, Lanzillo R, Salvatore P, Mallica C, Salvatore E, Brunetti A, Alfano B, Morra VB
* Is brain atrophy progression in RR-MS slowed by the association off atorvastatin and interferon beta-1a? Preliminary results from an open-label, randomized, clinical study (574 views)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2008 Mar 11; 70(11): N/D-N/D.
Impact Factor: 7.043
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Barbarulo AM, Pappata S, Puoti G, Prinster A, Grossi D, Cotrufo R, Salvatore M, Trojano L
* Rehabilitation of gesture imitation: a case study with fMRI (1119 views)
Neurocase (ISSN: 1465-3656, 1355-4794), 2008; 14(4): 293-306.
Impact Factor: 0.918
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Tedeschi G, Dinacci D, Lavorgna L, Prinster A, Savettieri G, Quattrone A, Livrea P, Messina C, Reggio A, Servillo G, Bresciamorra V, Orefice G, Paciello M, Brunetti A, Paolillo A, Coniglio G, Bonavita S, Di Costanzo A, Bellacosa A, Valentino P, Quarantelli M, Patti F, Salemi G, Cammarata E, Simone I, Salvatore M, Bonavita V, Alfano B
* Correlation between fatigue and brain atrophy and lesion load in multiple sclerosis patients independent of disability (1146 views) (PDF 309 views)
J Neurol Sci (ISSN: 0022-510x, 0022-510xlinking), 2007 Dec 15; 263(1-2): 15-19.
Impact Factor: 2.315
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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 (720 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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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 (605 views)
Mov Disord (ISSN: 0885-3185, 1531-8257, 0885-3185linking), 2006 Jun; 21(6): 872-875.
Impact Factor: 3.323
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Prinster A, Quarantelli M, Orefice G, Lanzillo R, Brunetti A, Mollica C, Salvatore E, Morra VB, Coppola G, Vacca G, Alfano B, Salvatore M
* Grey matter loss in relapsing-remitting multiple sclerosis: A voxel-based morphometry study (892 views) (PDF 292 views)
Neuroimage (ISSN: 1053-8119, 1053-8119linking), 2006 Feb 1; 29(3): 859-867.
Impact Factor: 5.559
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Cittadini A, Monti MG, Iaccarino G, Di Rella F, Tsichlis PN, Di Gianni A, Strömer H, Sorriento D, Peschle C, Trimarco B, Saccà L, Condorelli G
* Adenoviral gene transfer of Akt enhances myocardial contractility and intracellular calcium handling (2329 views)
Gene Ther (ISSN: 0969-7128, 0969-7128linking), 2006; 13(1): 8-19.
Impact Factor: 4.782
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Pedone E, Saviano M, Bartolucci S, Rossi M, Ausili A, Scire A, Bertoli E, Tanfani F
* Temperature-, SDS-, and pH-induced conformational changes in protein disulfide oxidoreductase from the archaeon Pyrococcus furiosus: A dynamic simulation and fourier transform infrared spectroscopic study (836 views)
J Proteome Res (ISSN: 1535-3893), 2005 Nov; 4(6): 1972-1980.
Impact Factor: 6.901
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Tedeschi G, Lavorgna L, Russo P, Prinster A, Dinacci D, Savettieri G, Quattrone A, Livrea P, Messina C, Reggio A, Bresciamorra V, Orefice G, Paciello M, Brunetti A, Coniglio G, Bonavita S, Di Costanzo A, Bellacosa A, Valentino P, Quarantelli M, Patti F, Salemi G, Cammarata E, Simone IL, Salvatore M, Bonavita V, Alfano B
* Brain atrophy and lesion load in a large population of patients with multiple sclerosis (869 views) (PDF 309 views)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2005 Jul 26; 65(2): 280-285.
Impact Factor: 5.065
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Buffon F, Molko N, Hervé D, Porcher R, Denghien I, Pappata S, Le Bihan D, Bousser MG, Chabriat H
* Longitudinal diffusion changes in cerebral hemispheres after MCA infarcts (729 views)
J Cereb Blood Flow Metab (ISSN: 0271-678x, 0271-678xlinking), 2005 May; 25(5): 641-650.
Impact Factor: 4.786
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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 (687 views)
Radiol Med (ISSN: 0033-8362, 1826-6983, 1826-6983electronic), 2004 Oct; 108(4): 417-425.
Impact Factor: 1.368
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Pedone E, Ren B, Ladenstein R, Rossi M, Bartolucci S
* Functional properties of the protein disulfide oxidoreductase from the archaeon Pyrococcus furiosus - A member of a novel protein family related to protein disulfide-isomerase (717 views)
Eur J Biochem (ISSN: 0014-2956, 0014-2956print), 2004 Sep; 271(16): 3437-3448.
Impact Factor: 3.26
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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 (755 views)
Annals Of Neurology, 2004 Mar; 55(3): 426-430.
Impact Factor: 11.91
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Quarantelli M, Ciarmiello A, Morra VB, Orefice G, Larobina M, Lanzillo R, Schiavone V, Salvatore E, Alfano B, Brunetti A
* Brain tissue volume changes in relapsing-remitting multiple sclerosis: Correlation with lesion load (838 views) (PDF 306 views)
Neuroimage (ISSN: 1053-8119, 1053-8119linking), 2003 Feb; 18(2): 360-366.
Impact Factor: 6.192
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Brunetti A, Postiglione A, Tedeschi E, Ciarmiello A, Quarantelli M, Covelli EM, Milan G, Larobina M, Soricelli A, Sodano A, Alfano B
Measurement of global brain atrophy in Alzheimer's disease with unsupervised segmentation of spin-echo MRI studies (1005 views) (PDF 327 views)
J Magn Reson Imaging (ISSN: 1053-1807, 1522-2586electronic), 2000 Mar; 11(3): 260-266.
Impact Factor: 1.302
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De Michele G, Mainenti PP, Soricelli A, Di Salle F, Salvatore E, Longobardi MR, Postiglione A, Salvatore M, Filla A
Cerebral blood flow in spinocerebellar degenerations: a single photon emission tomography study in 28 patients (510 views)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 1998 Sep; 245(9): 603-608.
Impact Factor: 2.3
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Mansi L, Rambaldi PF, Cuccurullo V, Pecori B, Quarantelli M, Fallanca F, Del Vecchio E
Diagnostic and prognostic role of 99mTc-Tetrofosmin in breast cancer (635 views)
Q J Nucl Med (ISSN: 1124-3937, 1125-0135), 1997 Sep; 41(3): 239-250.
Impact Factor: 2.125
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Bonomo RP, De Flora A, Rizzarelli E, Santoro AM, Tabbì G, Tonetti M
Copper(II) complexes encapsulated in human red blood cells (940 views)
J Chem Res (ISSN: 0162-0134, 1873-3344, 0162-0134print), 1995 Sep; 59(4): 773-784.
Impact Factor: 1.342
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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 (987 views)
Ann Neurol (ISSN: 0364-5134), 1994 Jun; 35(6): 689-697.
Impact Factor: 9.513
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65 Records (62 excluding Abstracts).
Total impact factor: 259.085 (240.205 excluding Abstracts).
Total 5 year impact factor: 261.798 (242.551 excluding Abstracts).
Total impact factor: 259.085 (240.205 excluding Abstracts).
Total 5 year impact factor: 261.798 (242.551 excluding Abstracts).
699 views. Last view on Tuesday 22 April 2025, 22:19:11
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