GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases (284 views visite)
Neurobiol Aging (ISSN: 0197-4580, 1558-1497electronic, 0197-4580linking), 2017 May; 53: 193-193.
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Paper type Tipo di articolo: Journal Article,
Impact factor: 4.454, 5-year impact factor Impact factor a 5 anni: 5.06
Url: Not available. Non disponibile.
Keywords Parole chiave: Frontotemporal Dementia, Phenotype, Progranulin,
Affiliations Affiliazioni:
*** IBB - CNR ***
Geriatric Clinic "Frullone" ASL Napoli 1, Naples, Italy., Institute of Protein Biochemistry (IBP), CNR, Naples, Italy., Institute of Bioimaging and Biostructures, CNR, Naples, Italy., Department of Environmental, Biological, Pharmaceutical Science and Technology, Second University of Naples, Caserta, Italy., Villa Camaldoli Foundation Clinic, Naples, Italy., IRCCS Multimedica, Milano, Italy., Department of Clinical Medicine & Surgery, University of Naples "Federico II", Naples, Italy., Department of Biology, University of Naples Federico II, Naples, Italy., IRCCS Multimedica, Milano, Italy; Department of Medicine, University of Salerno, Salerno, Italy., Villa Camaldoli Foundation Clinic, Naples, Italy; Department of Psychology, Second University of Naples, Caserta, Italy., Institute of Protein Biochemistry (IBP), CNR, Naples, Italy. Electronic address: emilia.vitale@cnr.it.,
References Riferimenti:
Not available. Non disponibili.
Neurobiol Aging (ISSN: 0197-4580, 1558-1497electronic, 0197-4580linking), 2017 May; 53: 193-193.
Export to Esporta in BibTeX Export to Esporta in EndNote
Paper type Tipo di articolo: Journal Article,
Impact factor: 4.454, 5-year impact factor Impact factor a 5 anni: 5.06
Url: Not available. Non disponibile.
Keywords Parole chiave: Frontotemporal Dementia, Phenotype, Progranulin,
Affiliations Affiliazioni:
*** IBB - CNR ***
Geriatric Clinic "Frullone" ASL Napoli 1, Naples, Italy., Institute of Protein Biochemistry (IBP), CNR, Naples, Italy., Institute of Bioimaging and Biostructures, CNR, Naples, Italy., Department of Environmental, Biological, Pharmaceutical Science and Technology, Second University of Naples, Caserta, Italy., Villa Camaldoli Foundation Clinic, Naples, Italy., IRCCS Multimedica, Milano, Italy., Department of Clinical Medicine & Surgery, University of Naples "Federico II", Naples, Italy., Department of Biology, University of Naples Federico II, Naples, Italy., IRCCS Multimedica, Milano, Italy; Department of Medicine, University of Salerno, Salerno, Italy., Villa Camaldoli Foundation Clinic, Naples, Italy; Department of Psychology, Second University of Naples, Caserta, Italy., Institute of Protein Biochemistry (IBP), CNR, Naples, Italy. Electronic address: emilia.vitale@cnr.it.,
References Riferimenti:
Not available. Non disponibili.
GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases
Progranulin (GRN) gene mutations have been genetically associated with frontotemporal dementia (FTD) and are present in about 23% of patients with familial FTD. However, the neurobiology of this secreted glycoprotein remains unclear. Here, we report the identification of 3 pedigrees of Southern Italian extraction in whom FTD segregates with autosomal dominant inheritance patterns. We present evidence that all the available patients in these 3 familial cases are carrying the rare GRN gene exon 6 deletion g10325_10331delCTGCTGT (relative to nt 1 inNG_007886.1), alias Cys157LysfsX97. This mutation was previously described in 2 sporadic cases but was never associated with familial cases. Our patients demonstrate heterogeneous clinical phenotypes, such as the behavioral variant (bvFTD) in the affected men and the nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA) in the affected woman. Haploinsufficiency was revealed by both quantitative real-time PCR of the gene and protein analyses. These findings provide further support for a previously proposed role for the GRN gene in the genetic etiology of FTD and its phenotypic variability.
Progranulin (GRN) gene mutations have been genetically associated with frontotemporal dementia (FTD) and are present in about 23% of patients with familial FTD. However, the neurobiology of this secreted glycoprotein remains unclear. Here, we report the identification of 3 pedigrees of Southern Italian extraction in whom FTD segregates with autosomal dominant inheritance patterns. We present evidence that all the available patients in these 3 familial cases are carrying the rare GRN gene exon 6 deletion g10325_10331delCTGCTGT (relative to nt 1 inNG_007886.1), alias Cys157LysfsX97. This mutation was previously described in 2 sporadic cases but was never associated with familial cases. Our patients demonstrate heterogeneous clinical phenotypes, such as the behavioral variant (bvFTD) in the affected men and the nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA) in the affected woman. Haploinsufficiency was revealed by both quantitative real-time PCR of the gene and protein analyses. These findings provide further support for a previously proposed role for the GRN gene in the genetic etiology of FTD and its phenotypic variability.
GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases
| ▼ Design of New FSHR-Specific Peptides for therapeutic and diagnostic applications Progettazione di nuovi peptidi specifici per il recettore dell’FSH per applicazioni diagnostiche e terapeutiche |
GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases
De Rosa V, Fonti R, Del Vecchio S, Iommelli F
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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 (270 visite)
Mov Disord (ISSN: 0885-3185, 1531-8257), 2007 Mar 15; 22(4): 559-563.
Impact Factor: 3.207
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Minopoli G, Stante M, Napolitano F, Telese F, Aloia L, De Felice M, Di Lauro R, Pacelli R, Brunetti A, Zambrano N, Russo T
* Essential roles for Fe65, Alzheimer amyloid precursor-binding protein, in the cellular response to DNA damage (392 visite)
Jbc Papers (ISSN: 0021-9258, 1083-351x, 0021-9258linking), 2007 Jan 12; 282(2): 831-835.
Impact Factor: 5.581
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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 (268 visite)
Mov Disord (ISSN: 0885-3185, 1531-8257), 2006 Jun; 21(6): 872-875.
Impact Factor: 3.323
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Calafiore M, Battaglia G, Zappal A, Trovato-Salinaro E, Caraci F, Caruso M, Vancheri C, Sortino MA, Nicoletti F, Copani A
* Progenitor cells from the adult mouse brain acquire a neuronal phenotype in response to β-amyloid (367 visite)
Neurobiol Aging (ISSN: 0197-4580, 1558-1497electronic, 0197-4580linking), 2006; 27(4): 606-613.
Impact Factor: 5.599
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Palmieri V, Storto G, Arezzi E, Pellegrino T, Mancini M, Di Minno G, Ferrara AL, Cuocolo A, Celentano A
* Relations of left ventricular mass and systolic function to endothelial function and coronary flow reserve in healthy, new discovered hypertensive subjects (275 visite)
J Hum Hypertens (ISSN: 0950-9240), 2005 Dec; 19(12): 941-950.
Impact Factor: 2.405
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Foti D, Chiefari E, Fedele M, Iuliano R, Brunetti L, Paonessa F, Manfioletti G, Barbetti F, Brunetti A, Croce CM, Fusco A, Brunetti A
* Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice (337 visite)
Nat Med (ISSN: 1078-8956, 0034-7264), 2005 Jul; 11(7): 765-773.
Impact Factor: 28.878
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Criscuolo C, Mancini P, Menchise V, Sacca F, De Michele G, Banfi S, Filla A
* Very late onset in ataxia oculomotor apraxia type I [1] (280 visite)
Ann Neurol (ISSN: 0364-5134), 2005 May; 57(5): 777-777.
Impact Factor: 7.571
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Pace L, Del Vecchio S, Salvatore M
* Technetium 99m sestamibi in multiple myeloma (231 visite)
Radiology (ISSN: 0033-8419, 1527-1315, 1527-1315electronic), 2005 Jan; 234(1): 312-313.
Impact Factor: 5.377
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Pace L, Del Vecchio S, Salvatore M, Walker RC, Angtuaco E, Sethi R, Fassas A, Barlogie B
* Technetium 99m sestamibi in multiple myeloma [3] (multiple letters) (301 visite)
Radiology (ISSN: 0033-8419, 1527-1315, 1527-1315electronic), 2005; 234(1): 312-313.
Impact Factor: 5.377
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Fonti R, Del Vecchio S, Zannetti A, De Renzo A, Catalano L, Pace L, Rotoli B, Salvatore M
* Functional Imaging Of Multidrug Resistant Phenotype By 99mtc-Mibi Scan In Patients With Multiple Myeloma (421 visite)
Cancer Biotherapy And Radiopharmaceuticals (ISSN: 1084-9785, 1084-4978), 2004; 19(2): 165-170.
Impact Factor: 1.091
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Del Vecchio S, Zannetti A, Aloj L, Salvatore M
* MIBI as prognostic factor in breast cancer (390 visite)
Q J Nucl Med (ISSN: 1124-3937, 1125-0135), 2003 Mar; 47(1): 46-50.
Impact Factor: 2.222
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Varrone A, Pappata S, Caracò C, Soricelli A, Milan G, Quarantelli M, Alfano B, Postiglione A, Salvatore M
* Voxel-based comparison of rCBF SPET images in frontotemporal dementia and Alzheimer's disease highlights the involvement of different cortical networks (378 visite) (PDF 254 visite)
Eur J Nucl Med (ISSN: 0340-6997, 1619-7070, 1619-7089), 2002 Nov; 29(11): 1447-1454.
Impact Factor: 3.568
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Del Vecchio S, Fonti R, Zannetti A, De Renzo A, Di Gennaro F, Catalano L, Califano C, Pace L, Rotoli B, Salvatore M
Functional imaging of multidrug resistant phenotype by 99mTc-MIBI scan in patients with multiple myeloma (305 visite)
Eur J Nucl Med (ISSN: 0340-6997, 1619-7070, 1619-7089), 1999 Sep; 26(9): N/D-N/D.
Impact Factor: 3.239
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Del Vecchio S, Ciarmiello A, Salvatore M
Clinical imaging of multidrug resistance in cancer (334 visite)
Q J Nucl Med (ISSN: 1124-3937, 1125-0135), 1999 Jun; 43(2): 125-131.
Impact Factor: 2.125
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Salvatore M, Del Vecchio S
Dynamic imaging: Scintimammography (348 visite)
Eur J Radiol Elsevier Sci Ireland Ltd (ISSN: 0720-048x), 1998 May; 27(SUPPL.2): S259-S259.
Impact Factor: 0.537
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Vecchio SD, Ciarmiello A, Potena MI, Carriero MV, Mainolfi C, Botti G, Thomas R, Cerra M, D'Aiuto G, Tsuruo T, Salvatore M
In vivo detection of multidrug-resistant (MDR1) phenotype by technetium-99m sestamibi scan in untreated breast cancer patients (273 visite)
Eur J Nucl Med (ISSN: 0340-6997print, 0340-6997linking), 1997 Feb; 24(2): 150-159.
Impact Factor: 5.036
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Del Vecchio S, Ciarmiello A, Potena MI, Carriero MV, Thomas R, D'Aiuto G, Tsuruo T, Salvatore M
Detection of multidrug-resistant phenotype by 99mTc-Sestamibi scan in patients with breast carcinoma (220 visite)
Meetingproceedings Of The American Association For Cancer Research Annual (ISSN: 0197-016x), 1996; 37(0): N/D-N/D.
Impact Factor: 0
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Vai a fine pagina Versione per copia e incolla facile Esporta tutto in BibTeX Esporta tutto in EndNote
De Rosa V, Fonti R, Del Vecchio S, Iommelli F
* Non-invasive detection of epithelial mesenchymal transition phenotype and metastatic dissemination of lung cancer by liquid biopsy (2 visite) (PDF 3 visite)
Exploration Of Targeted Anti-Tumor Therapy, 2021 Mar; N/D: 36-47.
Impact Factor: 0
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Rendina A, Drongitis D, Donizetti A, Fucci L, Milan G, Tripodi F, Giustezza F, Postiglione A, Pappata S, Ferrari R, Bossù P, Angiolillo A, Di Costanzo A, Caiazzo M, Vitale E
* CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia (69 visite)
J Neuropathol Exp Neurol (ISSN: 0022-3069linking), 2020 Jul 10; 79(8): 891-901.
Impact Factor: 3.51
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Coppola C, Oliva M, Saracino D, Pappata S, Zampella E, Cimini S, Ricci M, Giaccone G, Di Iorio G, Rossi G
* One novel GRN null mutation, two different aphasia phenotypes (92 visite)
Neurobiol Aging (ISSN: 0197-4580linking, 1558-1497electronic), 2020 Mar; 87: 141-141.
Impact Factor: 2.872
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Famulari ES, Navarro-tableros V, Herrera Sanchez MB, Bortolussi G, Gai M, Conti L, Silengo L, Tolosano E, Tetta C, Muro AF, Camussi G, Fagoonee S, Altruda F
* Human liver stem cells express UGT1A1 and improve phenotype of immunocompromised Crigler Najjar syndrome type I mice (125 visite)
Sci Rep (ISSN: 2045-2322linking, 2045-2322electronic), 2020 Jan 21; 10 (1 ): 887-887.
Impact Factor: 5.078
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Di Dato F, Spadarella S, Puoti MG, Caprio MG, Pagliardini S, Zuppaldi C, Vallone G, Fecarotta S, Esposito G, Iorio R, Parenti G, Spagnuolo MI
* Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance (144 visite) (PDF 78 visite)
Nutrients (ISSN: 2072-6643linking, 2072-6643electronic), 2019 Oct 07; 11(10): N/D-N/D.
Impact Factor: 4.171
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Ciarmiello A, Tartaglione A, Giovannini E, Riondato M, Giovacchini G, Ferrando O, De Biasi M, Passera C, Carabelli E, Mannironi A, Foppiano F, Alfano B, Mansi L
* Amyloid burden identifies neuropsychological phenotypes at increased risk of progression to Alzheimer's disease in mild cognitive impairment patients (274 visite)
Eur J Nucl Med (ISSN: 1619-7070linking, 1619-7070print, 1619-7089electronic), 2018 Sep 22; 46(2): 288-296.
Impact Factor: 7.704
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Calvanese L, D'Auria G, Vangone A, Falcigno L, Oliva R
* Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases (193 visite)
Int J Mol Sc (ISSN: 1422-0067linking, 1422-0067electronic, 1661-6596), 2018 May 25; 19(6): N/D-N/D.
Impact Factor: 3.687
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De Rosa A, Peluso S, De Lucia N, Russo P, Annarumma I, Esposito M, Manganelli F, Brunetti A, De Michele G, Pappata S
* Cognitive profile and 18F-fluorodeoxyglucose PET study in LRRK2-related Parkinson's disease (298 visite)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2018 Feb; 47: 80-83.
Impact Factor: 4.721
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Baglivo I, Pirone L, Pedone E, Pitzer JE, Muscariello L, Marino MM, Malgieri G, Freschi A, Chambery A, Roop Ii RM, Pedone PV
* Ml proteins from Mesorhizobium loti and MucR from Brucella abortus: an AT-rich core DNA-target site and oligomerization ability (205 visite)
Sci Rep (ISSN: 2045-2322, 2045-2322electronic, 2045-2322linking), 2017 Nov 17; 7(1): 15805-15805.
Impact Factor: 4.122
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Hill BS, Pelagalli A, Passaro N, Zannetti A
* Tumor-educated mesenchymal stem cells promote pro-metastatic phenotype (272 visite)
Oncotarget (ISSN: 1949-2553electronic, 1949-2553linking), 2017 Sep 22; 8(42): 73296-73311.
Impact Factor: 5.168
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Meccariello A, Monti SM, Romanelli A, Colonna R, Primo P, Inghilterra MG, Del Corsano G, Ramaglia A, Iazzetti G, Chiarore A, Patti F, Heinze SD, Salvemini M, Lindsay H, Chiavacci E, Burger A, Robinson MD, Mosimann C, Bopp D, Saccone G
* Highly efficient DNA-free gene disruption in the agricultural pest Ceratitis capitata by CRISPR-Cas9 ribonucleoprotein complexes (301 visite)
Sci Rep (ISSN: 2045-2322, 2045-2322electronic, 2045-2322linking), 2017 Aug 30; 7(1): 10061-10061.
Impact Factor: 4.122
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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 (190 visite)
Parkinsonism Relat D (ISSN: 1353-8020, 1873-5126, 1353-8020print), 2017 May 17; 41: 124-126.
Impact Factor: 4.721
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Ottaviano G, Cantone E, D'Errico A, Salvalaggio A, Citton V, Scarpa B, Favaro A, Sinisi AA, Liuzzi R, Bonanni G, Di Salle F, Elefante A, Manara R, Staffieri A, Martini A, Brunetti A
* Sniffin' Sticks and olfactory system imaging in patients with Kallmann syndrome (281 visite)
Int Forum Allergy Rh (ISSN: 2042-6976), 2015 May 7; 5(9): 855-861.
Impact Factor: 2.35
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Colucci-D'Amato L, Cicatiello AE, Reccia MG, Volpicelli F, Severino V, Russo R, Sandomenico A, Doti N, D'Esposito V, Formisano P, Chambery A
* A targeted secretome profiling by multiplexed immunoassay revealed that secreted chemokine ligand 2 (MCP-1/CCL2) affects neural differentiation in mesencephalic neural progenitor cells (511 visite)
Proteomics (ISSN: 1615-9853), 2015 Feb; 15(4): 714-724.
Impact Factor: 4.079
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Hangen E, Féraud O, Lachkar S, Mou H, Doti N, Fimia GM, Lam N-V, Zhu C, Godin I, Muller K, Chatzi A, Nuebel E, Ciccosanti F, Flamant S, Bénit P, Perfettini J-L, Sauvat A, Bennaceur-Griscelli A, Ser-Le Roux K, Gonin P, Tokatlidis K, Rustin P, Piacentini M, Ruvo M, Blomgren K, Kroemer G, Modjtahedi N
* Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis (379 visite)
Mol Cell (ISSN: 1097-2765, 1097-4164), 2015; 58(6): 1001-1014.
Impact Factor: 13.958
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Ruggiero L, Fiorillo C, Tessa A, Manganelli F, Iodice R, Dubbioso R, Vitale F, Storti E, Soscia E, Santorelli F, Santoro L
* Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene (245 visite)
Muscle Nerve (ISSN: 0148-639x), 2015; 51(4): 604-608.
Impact Factor: 2.713
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Perani D, Della Rosa PA, Cerami C, Gallivanone F, Fallanca F, Vanoli EG, Panzacchi A, Nobili F, Pappata S, Marcone A, Garibotto V, Castiglioni I, Magnani G, Cappa SF, Gianolli L; EADC-PET Consortium
* Validation of an optimized SPM procedure for FDG-PET in dementia diagnosis in a clinical setting (413 visite)
Neuroimage-Clin (ISSN: 2213-1582, 2213-1582electronic), 2014 Oct 24; 6: 445-454.
Impact Factor: 2.526
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Gargiulo S, Petretta MP, Greco A, Panico M, Larobina M, Gramanzini M, Schiattarella GG, Esposito G, Petretta M, Brunetti A, Cuocolo A
* Genetic deletion in uncoupling protein 3 augments 18F-fluorodeoxyglucose cardiac uptake in the ischemic heart (360 visite)
Bmc Cardiovasc Disor (ISSN: 1471-2261), 2014 Sep 8; 14(1): 98-98.
Impact Factor: 1.878
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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 (419 visite)
Neurogenetics (ISSN: 1364-6745, 1364-6753), 2014 Aug; 15(3): 183-188.
Impact Factor: 2.884
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Zatelli MC, Tagliati F, Di Ruvo M, Castermans E, Cavazzini L, Daly AF, Ambrosio MR, Beckers A, degli Uberti E
* Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression (384 visite)
Fam Cancer (ISSN: 1389-9600), 2014 Jun; 13(2): 273-280.
Impact Factor: 1.977
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Severino V, Alessio N, Farina A, Sandomenico A, Cipollaro M, Peluso G, Galderisi U, Chambery A
* Insulin-like growth factor binding proteins 4 and 7 released by senescent cells promote premature senescence in mesenchymal stem cells (357 visite)
Cell Death & (ISSN: 2041-4889, 2041-4889electronic), 2013 Nov 7; 4(11): e911-e911.
Impact Factor: 5.177
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Greco A, Ragucci M, Coda ARD, Rosa A, Gargiulo S, Liuzzi R, Gramanzini M, Albanese S, Pappata S, Mancini M, Brunetti A, Salvatore M
* High frequency ultrasound for in vivo pregnancy diagnosis and staging of placental and fetal development in mice (357 visite)
Plosone (ISSN: 1932-6203, 1932-6203electronic), 2013 Oct 14; 8(10): e77205-e77205.
Impact Factor: 3.534
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Andreotti G, Pedone E, Giordano A, Cubellis MV
* Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation (224 visite)
Molecular Genetics & Genomic Medicine (ISSN: 2324-9269), 2013 May; 1(1): 32-44.
Impact Factor: 2.082
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Tedesco I, Russo M, Bilotto S, Spagnuolo C, Scognamiglio A, Palumbo R, Nappo A, Iacomino G, Moio L, Russo GL
* Dealcoholated red wine induces autophagic and apoptotic cell death in an osteosarcoma cell line (391 visite)
Food Chem Toxicol (ISSN: 0278-6915), 2013; 60: 377-384.
Impact Factor: 2.61
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Ciccarelli M, Sorriento D, Franco A, Fusco A, Del Giudice C, Annunziata R, Cipolletta E, Monti MG, Dorn GW, Trimarco B, Iaccarino G
* Endothelial G protein-coupled receptor kinase 2 regulates vascular homeostasis through the control of free radical oxygen species (342 visite)
Arterioscler Thromb Vasc Biol Arteriosclerosis Thrombosis And Vascular Biology (ISSN: 1079-5642, 1049-8834), 2013; 33(10): 2415-2424.
Impact Factor: 5.533
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Galasso G, De Rosa R, Ciccarelli M, Sorriento D, Del Giudice C, Strisciuglio T, De Biase C, Luciano R, Piccolo R, Pierri A, Di Gioia G, Prevete N, Trimarco B, Piscione F, Iaccarino G
* β2-adrenergic receptor stimulation improves endothelial progenitor cell-mediated ischemic neoangiogenesis (408 visite)
Circ Res (ISSN: 0009-7330, 1524-4571electronic, 0009-7330linking), 2013; 112(7): 1026-1034.
Impact Factor: 11.089
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Ruggiero A, De Simone P, Smaldone G, Squeglia F, Berisio R
* Bacterial cell division regulation by Ser/Thr kinases: A structural perspective (524 visite)
Curr Protein Pept Sci (ISSN: 1389-2037, 1389-2037linking), 2012 Dec; 13(8): 756-766.
Impact Factor: 2.326
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Stanzione F, De Simone A, Esposito L, Vitagliano L
* Dynamical Properties of Steric Zipper Polymorphs Formed by a IAPP-Derived Peptide (401 visite)
Protein Pept Lett (ISSN: 0929-8665, 1875-5305), 2012 Sep; 19(8): 846-851.
Impact Factor: 1.994
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Riccio A, Cubellis MV
* Gain of function in CDKN1C (442 visite)
Nature Genetics (ISSN: 1061-4036), 2012 Jul; 44(7): 737-738.
Impact Factor: 35.209
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Santulli G, Lombardi A, Sorriento D, Anastasio A, Del Giudice C, Formisano P, Béguinot F, Trimarco B, Miele C, Iaccarino G
* Age-related impairment in insulin release: The essential role of β 2-adrenergic receptor (383 visite)
Diabetesdiabetes (ISSN: 0012-1797), 2012; 61(3): 692-701.
Impact Factor: 7.895
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Santulli G, Cipolletta E, Sorriento D, Del Giudice C, Anastasio A, Monaco S, Maione AS, Condorelli G, Puca A, Trimarco B, Illario M, Iaccarino G
* CaMK4 gene deletion induces hypertension (287 visite)
J Am Heart Assoc Journal Of The American Heart Association (ISSN: 2047-9980), 2012; 1(4): N/D-N/D.
Impact Factor: 2.882
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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
* Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability (310 visite)
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6753electronic), 2011 Feb; 12(1): 33-39.
Impact Factor: 3.354
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Spina-Purrello V, Giliberto S, Barresi V, Nicoletti VG, Giuffrida Stella AM, Rizzarelli E
* Modulation of PARP-1 and PARP-2 expression by L-carnosine and trehalose after LPS and INFγ-induced oxidative stress (356 visite)
Neurochemical Research (ISSN: 0364-3190, 1573-6903), 2010 Dec; 35(12): 2144-2153.
Impact Factor: 2.608
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Amorosi S, Vigliano I, Del Giudice E, Panico L, Maruotti GM, Fusco A, Quarantelli M, Ciccone C, Ursini MV, Martinelli P, Pignata C
* Brain alteration in a Nude/SCID fetus carrying FOXN1 homozygous mutation (348 visite)
J Neurol Sci (ISSN: 0022-510x), 2010 Nov 15; 298(1-2): 121-123.
Impact Factor: 2.167
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Varrone A, Halldin C
Molecular imaging of the dopamine transporter (481 visite)
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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Del Vecchio S, Zannetti A, Iommelli F, Lettieri A, Brunetti A, Salvatore M
* Molecular imaging of tumor microenvironment (394 visite)
Q J Nucl Med Mol Im (ISSN: 1824-4785, 1824-4478, 1824-4785linking), 2010 Jun; 54(3): 243-258.
Impact Factor: 1.724
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Del Vecchio S, Zannetti A, Iommelli F, Lettieri A, Brunetti A, Salvatore M
* Molecular imaging of tumor microenvironment: Challenges and perspectives (521 visite)
Q J Nucl Med Mol Im (ISSN: 1824-4785, 1824-4478, 1824-4785linking), 2010 Jun; 54(3): 249-258.
Impact Factor: 1.724
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Bruni AC, Bernardi L, Colao R, Rubino E, Smirne N, Frangipane F, Terni B, Curcio SA, Mirabelli M, Clodomiro A, Di Lorenzo R, Maletta R, Anfossi M, Gallo M, Geracitano S, Tomaino C, Muraca MG, Leotta A, Lio SG, Pinessi L, Rainero I, Sorbi S, Nee L, Milan G, Pappata S, Postiglione A, Abbamondi N, Forloni G, St George Hyslop P, Rogaeva E, Bugiani O, Giaccone G, Foncin JF, Spillantini MG, Puccio G
* Worldwide distribution of PSEN1 Met146Leu mutation: A large variability for a founder mutation (432 visite)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2010 Mar 9; 74(10): 798-806.
Impact Factor: 8.017
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De Leva MF, Filla A, Criscuolo C, Tessa A, Pappata S, Quarantelli M, Bilo L, Peluso S, Antenora A, Longo DL, Santorelli FM, De Michele G
* Complex phenotype in an Italian family with a novel mutation in SPG3A (352 visite)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2010 Mar; 257(3): 328-331.
Impact Factor: 3.853
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Kapucu OL, Nobili F, Varrone A, Booij J, Vander Borght T, Nagren K, Darcourt J, Tatsch K, Van Laere KJ
* EANM procedure guideline for brain perfusion SPECT using Tc-99m-labelled radiopharmaceuticals, version (410 visite)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2009 Dec; 36(12): 2093-2102.
Impact Factor: 4.531
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Varrone A, Asenbaum S, Vander Borght T, Booij J, Nobili F, Nagren K, Darcourt J, Kapucu OL, Tatsch K, Bartenstein P, Van Laere K
* EANM procedure guidelines for PET brain imaging using [18F]FDG, version (522 visite)
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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Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, De Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappata S, De Michele G
* Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study (306 visite)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2009 Sep; 256(8): 1252-1257.
Impact Factor: 2.903
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Daniele A, Scala I, Cardillo G, Pennino C, Ungaro C, Sibilio M, Parenti G, Esposito L, Zagari A, Andria G, Salvatore F
* Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy (324 visite)
Febs Journal (ISSN: 1742-464x), 2009 Apr; 276(7): 2048-2059.
Impact Factor: 3.042
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Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Esposito L, Correra A, Castaldo G, Zagari A, Salvatore F
* Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants (324 visite)
Bba-Gen Subjects (ISSN: 0925-4439, 0006-3002, 1570-9639), 2008 Jun; 1782(6): 378-384.
Impact Factor: 2.233
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Milan G, Lamenza F, Iavarone A, Galeone F, Lore E, De Falco C, Sorrentino P, Postiglione A
* Frontal Behavioural Inventory in the differential diagnosis of dementia (381 visite)
Acta Neurol Scand (ISSN: 0001-6314, 1600-0404), 2008; 117(4): 260-265.
Impact Factor: 2.317
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Postiglione A, Milan G, Pappata S, De Falco C, Lamenza F, Schiattarella V, Gallotta G, Sorrentino P, Striano S
* Fronto-temporal dementia presenting as Geschwind's syndrome (237 visite)
Neurocase (ISSN: 1355-4794, 1465-3656), 2008; 14(3): 264-270.
Impact Factor: 0.918
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Sorriento D, Ciccarelli M, Santulli G, Campanile A, Altobelli GG, Cimini V, Galasso G, Astone D, Piscione F, Pastore L, Trimarco B, Iaccarino G
* The G-protein-coupled receptor kinase 5 inhibits NFκB transcriptional activity by inducing nuclear accumulation of IκBα (364 visite)
P Natl Acad Sci Usa (ISSN: 0027-8424, 1091-6490, 0027-8424print), 2008; 105(46): 17818-17823.
Impact Factor: 9.38
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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 (270 visite)
Mov Disord (ISSN: 0885-3185, 1531-8257), 2007 Mar 15; 22(4): 559-563.
Impact Factor: 3.207
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Minopoli G, Stante M, Napolitano F, Telese F, Aloia L, De Felice M, Di Lauro R, Pacelli R, Brunetti A, Zambrano N, Russo T
* Essential roles for Fe65, Alzheimer amyloid precursor-binding protein, in the cellular response to DNA damage (392 visite)
Jbc Papers (ISSN: 0021-9258, 1083-351x, 0021-9258linking), 2007 Jan 12; 282(2): 831-835.
Impact Factor: 5.581
Dettagli Esporta in BibTeX Esporta in EndNote
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 (268 visite)
Mov Disord (ISSN: 0885-3185, 1531-8257), 2006 Jun; 21(6): 872-875.
Impact Factor: 3.323
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Calafiore M, Battaglia G, Zappal A, Trovato-Salinaro E, Caraci F, Caruso M, Vancheri C, Sortino MA, Nicoletti F, Copani A
* Progenitor cells from the adult mouse brain acquire a neuronal phenotype in response to β-amyloid (367 visite)
Neurobiol Aging (ISSN: 0197-4580, 1558-1497electronic, 0197-4580linking), 2006; 27(4): 606-613.
Impact Factor: 5.599
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Palmieri V, Storto G, Arezzi E, Pellegrino T, Mancini M, Di Minno G, Ferrara AL, Cuocolo A, Celentano A
* Relations of left ventricular mass and systolic function to endothelial function and coronary flow reserve in healthy, new discovered hypertensive subjects (275 visite)
J Hum Hypertens (ISSN: 0950-9240), 2005 Dec; 19(12): 941-950.
Impact Factor: 2.405
Dettagli Esporta in BibTeX Esporta in EndNote
Foti D, Chiefari E, Fedele M, Iuliano R, Brunetti L, Paonessa F, Manfioletti G, Barbetti F, Brunetti A, Croce CM, Fusco A, Brunetti A
* Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice (337 visite)
Nat Med (ISSN: 1078-8956, 0034-7264), 2005 Jul; 11(7): 765-773.
Impact Factor: 28.878
Dettagli Esporta in BibTeX Esporta in EndNote
Criscuolo C, Mancini P, Menchise V, Sacca F, De Michele G, Banfi S, Filla A
* Very late onset in ataxia oculomotor apraxia type I [1] (280 visite)
Ann Neurol (ISSN: 0364-5134), 2005 May; 57(5): 777-777.
Impact Factor: 7.571
Dettagli Esporta in BibTeX Esporta in EndNote
Pace L, Del Vecchio S, Salvatore M
* Technetium 99m sestamibi in multiple myeloma (231 visite)
Radiology (ISSN: 0033-8419, 1527-1315, 1527-1315electronic), 2005 Jan; 234(1): 312-313.
Impact Factor: 5.377
Dettagli Esporta in BibTeX Esporta in EndNote
Pace L, Del Vecchio S, Salvatore M, Walker RC, Angtuaco E, Sethi R, Fassas A, Barlogie B
* Technetium 99m sestamibi in multiple myeloma [3] (multiple letters) (301 visite)
Radiology (ISSN: 0033-8419, 1527-1315, 1527-1315electronic), 2005; 234(1): 312-313.
Impact Factor: 5.377
Dettagli Esporta in BibTeX Esporta in EndNote
Fonti R, Del Vecchio S, Zannetti A, De Renzo A, Catalano L, Pace L, Rotoli B, Salvatore M
* Functional Imaging Of Multidrug Resistant Phenotype By 99mtc-Mibi Scan In Patients With Multiple Myeloma (421 visite)
Cancer Biotherapy And Radiopharmaceuticals (ISSN: 1084-9785, 1084-4978), 2004; 19(2): 165-170.
Impact Factor: 1.091
Dettagli Esporta in BibTeX Esporta in EndNote
Del Vecchio S, Zannetti A, Aloj L, Salvatore M
* MIBI as prognostic factor in breast cancer (390 visite)
Q J Nucl Med (ISSN: 1124-3937, 1125-0135), 2003 Mar; 47(1): 46-50.
Impact Factor: 2.222
Dettagli Esporta in BibTeX Esporta in EndNote
Varrone A, Pappata S, Caracò C, Soricelli A, Milan G, Quarantelli M, Alfano B, Postiglione A, Salvatore M
* Voxel-based comparison of rCBF SPET images in frontotemporal dementia and Alzheimer's disease highlights the involvement of different cortical networks (378 visite) (PDF 254 visite)
Eur J Nucl Med (ISSN: 0340-6997, 1619-7070, 1619-7089), 2002 Nov; 29(11): 1447-1454.
Impact Factor: 3.568
Dettagli Esporta in BibTeX Esporta in EndNote
Del Vecchio S, Fonti R, Zannetti A, De Renzo A, Di Gennaro F, Catalano L, Califano C, Pace L, Rotoli B, Salvatore M
Functional imaging of multidrug resistant phenotype by 99mTc-MIBI scan in patients with multiple myeloma (305 visite)
Eur J Nucl Med (ISSN: 0340-6997, 1619-7070, 1619-7089), 1999 Sep; 26(9): N/D-N/D.
Impact Factor: 3.239
Dettagli Esporta in BibTeX Esporta in EndNote
Del Vecchio S, Ciarmiello A, Salvatore M
Clinical imaging of multidrug resistance in cancer (334 visite)
Q J Nucl Med (ISSN: 1124-3937, 1125-0135), 1999 Jun; 43(2): 125-131.
Impact Factor: 2.125
Dettagli Esporta in BibTeX Esporta in EndNote
Salvatore M, Del Vecchio S
Dynamic imaging: Scintimammography (348 visite)
Eur J Radiol Elsevier Sci Ireland Ltd (ISSN: 0720-048x), 1998 May; 27(SUPPL.2): S259-S259.
Impact Factor: 0.537
Dettagli Esporta in BibTeX Esporta in EndNote
Vecchio SD, Ciarmiello A, Potena MI, Carriero MV, Mainolfi C, Botti G, Thomas R, Cerra M, D'Aiuto G, Tsuruo T, Salvatore M
In vivo detection of multidrug-resistant (MDR1) phenotype by technetium-99m sestamibi scan in untreated breast cancer patients (273 visite)
Eur J Nucl Med (ISSN: 0340-6997print, 0340-6997linking), 1997 Feb; 24(2): 150-159.
Impact Factor: 5.036
Dettagli Esporta in BibTeX Esporta in EndNote
Del Vecchio S, Ciarmiello A, Potena MI, Carriero MV, Thomas R, D'Aiuto G, Tsuruo T, Salvatore M
Detection of multidrug-resistant phenotype by 99mTc-Sestamibi scan in patients with breast carcinoma (220 visite)
Meetingproceedings Of The American Association For Cancer Research Annual (ISSN: 0197-016x), 1996; 37(0): N/D-N/D.
Impact Factor: 0
Dettagli Esporta in BibTeX Esporta in EndNote
64 Records (58 escludendo Abstract e Conferenze).
Impact factor totale: 308.032 (289.63 escludendo Abstract e Conferenze).
Impact factor a 5 anni totale: 316.373 (291.619 escludendo Abstract e Conferenze).
Impact factor totale: 308.032 (289.63 escludendo Abstract e Conferenze).
Impact factor a 5 anni totale: 316.373 (291.619 escludendo Abstract e Conferenze).
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