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Parkinsonism may be part of the symptom complex of DOOR syndrome (82 visite)

Bilo L, Peluso S, Antenora A, De Rosa A, Auletta G, Pappata S, De Michele G

Parkinsonism Relat Disord (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2014 Apr; 20(4): 463-465.



Tipo di articolo: Letter, Case Reports, Research Support, Non-U. S. Gov'T, Journal Article,

Impact factor: 3.972, Impact factor a 5 anni: 3.885

Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84897965850&partnerID=40&md5=223c77fe99cbe23696f4b6de4eaabd79

Parole chiave: Craniofacial Abnormalities Complications Physiopathology, Female, Hand Deformities, Congenital Complications Physiopathology, Hearing Loss, Sensorineural Complications Physiopathology, Humans, Intellectual Disability Complications Physiopathology, Nails, Malformed Complications Physiopathology, Parkinsonian Disorders Etiology Physiopathology, Young Adult, 2 Oxoglutaric Acid, Anticonvulsive Agent, Etiracetam, Lamotrigine, Pramipexole, Topiramate, Valproic Acid, Case Report, Congenital Disorder, Disease Course, Disease Severity, Gene Mutation, Growth, Letter, Mental Deficiency, Monotherapy, Mortality, Motor Development, Motor Dysfunction, Neurologic Examination, Nuclear Magnetic Resonance Imaging, Perception Deafness, Polyneuropathy, Priority Journal, Symptomatology, Syndrome Door, Tonic Clonic Seizure, Tremor, Unified Parkinson Disease Rating Scale, Craniofacial Malformation, Hand Malformation, Intellectual Impairment, Nail Disease, Pathophysiology,

Affiliazioni:

*** IBB - CNR ***
Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Biostructure and Bioimaging Institute, CNR, Naples, Italy.



Riferimenti:

James, A.W., Miranda, S.G., Culver, K., Hall, B.D., Golabi, M., DOOR syndrome: clinical report, literature review and discussion of natural history (2007) Am J Med Genet A, 143 A, pp. 2821-283

Rajab, A., Riaz, A., Paul, G., Al-Khusaibi, S., Chalmers, R., Patton, M.A., Further delineation of the DOOR syndrome (2000) Clin Dysmorphol, 9, pp. 247-251

Surendran, S., Michals-Matalon, K., Krywawych, S., Qazi, Q.H., Tuchman, R., Rady, P.L., DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex (2002) Am J Med Genet, 113, pp. 371-374

Gascon, G.G., Ozand, P.T., Brismar, J., Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations (1994) Brain Dev, 16 (SUPPL), pp. 94-103

van Bever, Y., Balemans, W., Duval, E.L., Jespers, A., Eyskens, F., van Hul, W., Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome (2007) Am J Med Genet A, 143, pp. 763-767

James, A. W., Miranda, S. G., Culver, K., Hall, B. D., Golabi, M., DOOR syndrome: clinical report, literature review and discussion of natural history (2007) Am J Med Genet A, 143 A, pp. 2821-283

Gascon, G. G., Ozand, P. T., Brismar, J., Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations (1994) Brain Dev, 16 (SUPPL), pp. 94-103



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Di Minno MN, Iervolino S, Soscia E, Tosetto A, Coppola A, Schiavulli M, Marrone E, Ruosi C, Salvatore M, Di Minno G
* Magnetic resonance imaging and ultrasound evaluation of "healthy" joints in young subjects with severe haemophilia (136 visite)
Haemophilia (ISSN: 1351-8216), 2013 May; 19(3): e167-e167.
Impact Factor: 2.468
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Lanzillo R, Bonavita S, Quarantelli M, Vacca G, Lus G, Amato L, Carotenuto A, Tedeschi G, Orefice G, Brescia Morra V
* Natalizumab is effective in multiple sclerosis patients switching from other disease modifying therapies in clinical practice (77 visite)
Neurol Sci (ISSN: 1590-1874, 1590-0187, 1590-3478), 2013 Apr; 34(4): 521-528.
Impact Factor: 0.38
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Pasanisi F, Pace L, Fonti R, Marra M, Sgambati D, De Caprio C, De Filippo E, Vaccaro A, Salvatore M, Contaldo F
* Evidence of brown fat activity in constitutional leanness (106 visite)
J Clin Endocrinol Metab (ISSN: 1945-7197, 0021-972x, 0021-972xlinking), 2013 Mar; 98(3): 1214-1218.
Impact Factor: 6.31
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Cella L, Liuzzi R, Conson M, D'Avino V, Salvatore M, Pacelli R
* Development of multivariate NTCP models for radiation-induced hypothyroidism: A comparative analysis (155 visite) (PDF 132 visite)
Radiat Oncol Radiation Oncology (ISSN: 1748-717x), 2012 Dec 27; 7(1): 224-224.
Impact Factor: 2.107
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Peluso R, Di Minno MND, Bruner V, Soscia E, Castiglione F, Manguso F, Iervolino S, Scarpa R
* Discovertebral Erosions in Patients with Enteropathic Spondyloarthritis (105 visite)
Journal Of Rheumatology (ISSN: 0315-162x), 2012 Dec; 39(12): 2332-2340.
Impact Factor: 3.258
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Risitano AM, Imbriaco M, Marando L, Seneca E, Soscia E, Malcovati L, Iori AP, Pane F, Notaro R, Matarazzo M
* From perpetual haemosiderinuria to possible iron overload: iron redistribution in paroxysmal nocturnal haemoglobinuria patients on eculizumab by magnetic resonance imaging (106 visite)
Br J Haematol (ISSN: 0007-1048, 0007-1048linking, 1365-2141electronic), 2012 Sep; 158(3): 415-418.
Impact Factor: 4.942
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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 (122 visite)
J Nucl Med (ISSN: 0161-5505, 1535-5667, 1535-5667electronic), 2012 Jul; 53(7): 1065-1073.
Impact Factor: 5.774
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Maglione M, Bush A, Montella S, Mollica C, Manna A, Esposito A, Santamaria F
* Progression of lung disease in primary ciliary dyskinesia: Is spirometry less accurate than CT? (99 visite)
Pediatr Pulmonol (ISSN: 8755-6863), 2012 May; 47(5): 498-504.
Impact Factor: 2.375
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Cella L, Conson M, Caterino M, De Rosa N, Liuzzi R, Picardi M, Grimaldi F, Solla R, Farella A, Salvatore M, Pacelli R
* Thyroid V30 predicts radiation-induced hypothyroidism in patients treated with sequential chemo-radiotherapy for Hodgkin's lymphoma (163 visite) (PDF 132 visite)
Int J Radiat Oncol Biol Phys (ISSN: 0360-3016, 1879-355x, 1879-355xelectronic), 2012 Apr 1; 82(5): 1802-1808.
Impact Factor: 4.524
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Maurea S, Fusari M, Imbriaco M, Camera L, Mainenti PP, Campione S, Santangelo M, Salvatore M
* Pitfalls in diagnostic imaging of cystic pancreatic masses: a case of true cystic lesion mimicking a mucinous cystadenoma (95 visite)
Jop (ISSN: 1590-8577, 1590-0857), 2012 Jan 10; 13(1): 83-86.
Impact Factor: 0
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Montella S, Maglione M, Bruzzese D, Mollica C, Pignata C, Aloj G, Manna A, Esposito A, Mirra V, Santamaria F
* Magnetic resonance imaging is an accurate and reliable method to evaluate non-cystic fibrosis paediatric lung disease (102 visite)
Respirology (ISSN: 1323-7799, 1440-1843electronic), 2012 Jan; 17(1): 87-91.
Impact Factor: 2.781
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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? (136 visite)
Parkinsonism Relat Disord (ISSN: 1353-8020, 1873-5126, 1873-5126electronic), 2011 Dec; 17(10): 771-773.
Impact Factor: 3.795
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Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F
* Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase (134 visite)
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2011 Dec; 32(12): 1460-1469.
Impact Factor: 5.686
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Pace L, Nicolai E, D'Amico D, Ibello F, Della Morte AM, Salvatore B, Pizzuti LM, Salvatore M, Soricelli A
* Determinants of physiologic 18F-FDG uptake in brown adipose tissue in sequential PET/CT examinations (171 visite)
Molecular Imaging And Biology (ISSN: 1860-2002, 1536-1632), 2011 Oct; 13(5): 1029-1035.
Impact Factor: 3.844
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Esmaeilzadeh M, Farde L, Karlsson P, Varrone A, Halldin C, Waters S, Tedroff J
* Extrastriatal dopamine D 2 receptor binding in Huntington's disease (173 visite)
Hum Brain Mapp (ISSN: 1065-9471, 1097-0193electronic, 1065-9471linking), 2011 Oct; 32(10): 1626-1636.
Impact Factor: 5.88
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Striano P, Caranci F, Pappata S, Zara F, Striano S
* Hemidystonia in uncontrolled type 2 diabetes mellitus (52 visite)
Arch Neurol (ISSN: 1538-3687electronic, 0003-9942linking), 2011 May; 68(5): 674-675.
Impact Factor: 7.584
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Lanzillo R, Orefice G, Prinster A, Ventrella G, Liuzzi R, Scarano V, Florio C, Vacca G, Brunetti A, Alfano B, Brescia Morra V, Bonavita V
* Predictive factors of neutralizing antibodies development in relapsing-remitting multiple sclerosis patients on interferon Beta-1b therapy (93 visite) (PDF 114 visite)
Neurol Sci (ISSN: 1590-1874, 1590-3478), 2011 Apr; 32(2): 287-292.
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 (181 visite) (PDF 132 visite)
Neurol Sci (ISSN: 1590-1874, 1590-3478, 1590-1874linking), 2011 Feb; 32(1): 117-123.
Impact Factor: 1.315
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Varnäs K, Nyberg S, Halldin C, Varrone A, Takano A, Karlsson P, Andersson J, McCarthy D, Smith M, Pierson ME, Söderström J, Farde L
* Quantitative analysis of [11C]AZ10419369 binding to 5-HT 1B receptors in human brain (155 visite)
J Cereb Blood Flow Metab (ISSN: 0271-678x), 2011 Jan; 31(1): 113-123.
Impact Factor: 5.008
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Clemente F, Costa M, Monini S, Barbara M
* Monitoring of fixture osteointegration after BAHA(R) implantation (72 visite)
Audiology & Neuro Otology (ISSN: 1421-9700electronic, 1420-3030linking), 2011; 16(3): 158-163.
Impact Factor: 2.465
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Storto G, Di Giorgio E, De Renzo A, Pizzuti LM, Cerciello G, Nardelli A, Capacchione D, Castaldi E, Ortosecco G, Pace L
* Assessment of metabolic activity by PET-CT with F-18-FDG in patients with T-cell lymphoma (89 visite)
Br J Haematol (ISSN: 0007-1048, 0007-1048linking, 1365-2141electronic), 2010 Oct; 151(2): 195-197.
Impact Factor: 4.942
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Alterio V, Monti SM, Truppo E, Pedone C, Supuran CT, De Simone G
* The first example of a significant active site conformational rearrangement in a carbonic anhydrase-inhibitor adduct: The carbonic anhydrase I-topiramate complex (126 visite)
Org Biomol Chem (ISSN: 1477-0520, 1477-0539, 1477-0539electronic), 2010 Sep 7; 8(15): 3528-3533.
Impact Factor: 3.451
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Salvatore E, Di Maio L, Filla A, Ferrara AM, Rinaldi C, Sacca F, Peluso S, Macchia PE, Pappata S, De Michele G
* Benign hereditary chorea: Clinical and neuroimaging features in an Italian family (111 visite)
Mov Disord (ISSN: 0885-3185, 1531-8257), 2010 Jul 30; 25(10): 1491-1496.
Impact Factor: 4.48
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Cella L, Liuzzi R, Magliulo M, Conson M, Camera L, Salvatore M, Pacelli R
* Radiotherapy of large target volumes in Hodgkin's lymphoma: Normal tissue sparing capability of forward IMRT versus conventional techniques (160 visite) (PDF 132 visite)
Radiat Oncol Radiation Oncology (ISSN: 1748-717x), 2010 May 11; 5(1): 33-33.
Impact Factor: 2.409
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Napolitano M, Ottaiano A, Mauro F, Ieranò C, Satriano R, Pacelli R, Franco R, De Angelis V, Castello G, Scala S
* CD4(+)CD45RA(+)CXCR4(+) lymphocytes are inversely associated with progression in stages I-III melanoma patients (87 visite)
Cancer Immunol Immunother (ISSN: 0340-7004, 0340-7004linking), 2010 Apr; 59(4): 511-517.
Impact Factor: 4.293
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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 (143 visite) (PDF 113 visite)
Mult Scler (ISSN: 1352-4585, 1477-0970, 1352-4585linking), 2010 Jan; 16(1): 45-54.
Impact Factor: 4.23
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Capaccio D, Ciccodicola A, Sabatino L, Casamassimi A, Pancione M, Fucci A, Febbraro, Merlino A, Graziano G, Colantuoni V
* A novel germline mutation in Peroxisome Proliferator-Activated Receptor γ gene associated with large intestine polyp formation and dyslipidemia (105 visite)
Biochim Biophys Acta (ISSN: 0925-4439, 0006-3002, 1570-9639), 2010; 1802(6): 572-581.
Impact Factor: 2.773
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Montella S, Santamaria F, Salvatore M, Pignata C, Maglione M, Iacotucci P, Mollica C
* Assessment of chest high-field magnetic resonance imaging in children and young adults with noncystic fibrosis chronic lung disease: comparison to high-resolution computed tomography and correlation with pulmonary function (102 visite)
Invest Radiol (ISSN: 1536-0210, 0020-9996, 1536-0210electronic), 2009 Sep; 44(9): 532-538.
Impact Factor: 4.85
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Coppola G, Fortunato D, Auricchio G, Mainolfi C, Operto FF, Signoriello G, Pascotto A, Salvatore M
* Bone mineral density in children, adolescents, and young adults with epilepsy (147 visite)
Epilepsia (ISSN: 1528-1167, 0013-9580), 2009 Sep; 50(9): 2140-2146.
Impact Factor: 4.052
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De Simone G, Scozzafava A, Supuran CT
* Which Carbonic Anhydrases are Targeted by the Antiepileptic Sulfonamides and Sulfamates? (113 visite)
Chem Biol Drug Des Chemical Biology And Drug Design (ISSN: 1747-0277, 1747-0285), 2009 Sep; 74(3): 317-321.
Impact Factor: 2.473
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Imbriaco M, Pisani A, Spinelli L, Cuocolo A, Messalli G, Capuano E, Marmo M, Liuzzi R, Visciano B, Cianciaruso B, Salvatore M
* Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study (124 visite)
Heart (ISSN: 1355-6037, 1468-201x), 2009 Jul; 95(13): 1103-1107.
Impact Factor: 5.385
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De Rosa A, Criscuolo C, Mancini P, De Martino M, Giordano IA, Pappata S, Filla A, De Michele G
* Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy (66 visite)
Parkinsonism Relat Disord (ISSN: 1353-8020print, 1353-8020linking, 1873-5126electronic), 2009 Mar; 15(3): 242-244.
Impact Factor: 2.406
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Mcnab F, Varrone A, Farde L, Jucaite A, Bystritsky P, Forssberg H, Klingberg T
* Changes in cortical dopamine D1 receptor binding associated with cognitive training (150 visite)
Science (ISSN: 0036-8075), 2009 Feb 6; 323(5915): 800-802.
Impact Factor: 29.747
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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'Amelio 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 (196 visite) (PDF 157 visite)
Mult Scler (ISSN: 1352-4585, 1477-0970, 1352-4585linking), 2009 Feb; 15(2): 204-211.
Impact Factor: 3.279
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Gentile I, Viola C, Graf M, Liuzzi R, Quarto M, Cerini R, Piazza M, Borgia G
* A simple noninvasive score predicts gastroesophageal varices in patients with chronic viral hepatitis (145 visite)
J Clin Gastroenterol (ISSN: 0192-0790), 2009 Jan; 43(1): 81-87.
Impact Factor: 2.207
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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 (145 visite) (PDF 113 visite)
Mult Scler (ISSN: 1352-4585, 1477-0970, 1352-4585linking), 2008 Sep; 14: 45-54.
Impact Factor: 3.312
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Supuran CT, Di Fiore A, De Simone G
* Carbonic anhydrase inhibitors as emerging drugs for the treatment of obesity (132 visite)
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? (122 visite)
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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Takano A, Gulyas B, Varrone A, Karlsson P, Schou M, Airaksinen AJ, Vandenhende F, Tauscher J, Halldin C
* Imaging the norepinephrine transporter with positron emission tomography: Initial human studies with (S, S)-[18F]FMeNER-D2 (113 visite)
Eur J Nucl Med (ISSN: 1619-7070, 1619-7089, 0340-6997), 2008 Jan; 35(1): 153-157.
Impact Factor: 4.532
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Vitale RM, Pedone C, Amodeo P, Antel J, Wurl M, Scozzafava A, Supuran CT, De Simone G
* Molecular modeling study for the binding of zonisamide and topiramate to the human mitochondrial carbonic anhydrase isoform VA (122 visite)
Bioorg Med Chem (ISSN: 0968-0896, 1464-3391, 1464-3391electronic), 2007 Jun 15; 15(12): 4152-4158.
Impact Factor: 2.662
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De Simone G, Supuran CT
* Antiobesity carbonic anhydrase inhibitors (158 visite)
Curr Top Med Chem (ISSN: 1568-0266, 1568-0266linking, 1873-4294electronic), 2007; 7(9): 879-884.
Impact Factor: 4.325
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Colao A, Di Somma C, Cuocolo A, Spinelli L, Acampa W, Spiezia S, Rota F, Savanelli MC, Lombardi G
* Does a gender-related effect of growth hormone (GH) replacement exist on cardiovascular risk factors, cardiac morphology, and performance and atherosclerosis? Results of a two-year open, prospective study in young adult men and women with severe GH deficiency (122 visite)
J Clin Endocrinol Metab (ISSN: 0021-972x), 2005 Sep; 90(9): 5146-5155.
Impact Factor: 6.02
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De Simone G, Di Fiore A, Menchise V, Pedone C, Antel J, Casini A, Scozzafava A, Wurl M, Supuran CT
* Carbonic anhydrase inhibitors. Zonisamide is an effective inhibitor of the cytosolic isozyme II and mitochondrial isozyme V: solution and X-ray crystallographic studies (117 visite)
Bioorg Med Chem Lett Bioorganic And Medicinal Chemistry Letters (ISSN: 0960-894x), 2005 May 2; 15(9): 2315-2320.
Impact Factor: 2.478
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Colao A, Di Somma C, Cuocolo A, Spinelli L, Tedesco N, Pivonello R, Bonaduce D, Salvatore M, Lombardi G
* Improved cardiovascular risk factors and cardiac performance after 12 months of growth hormone (GH) replacement in young adult patients, with GH deficiency (122 visite)
J Clin Endocrinol Metab (ISSN: 0021-972x), 2001 May; 86(5): 1874-1881.
Impact Factor: 5.16
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Longobardi S, Cuocolo A, Merola B, Di Rella F, Colao A, Nicolai E, Cardei S, Salvatore M, Lombardi G
Left ventricular function in young adults with childhood and adulthood onset growth hormone deficiency (88 visite)
Clin Endocrinol (ISSN: 0300-0664, 1365-2265, 1365-2265electronic), 1998 Feb; 48(2): 137-143.
Impact Factor: 3.101
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86 Records (84 escludendo Abstract e Conferenze).
Impact factor totale: 318.468 (314.332 escludendo Abstract e Conferenze).
Impact factor a 5 anni totale: 313.457 (310.05 escludendo Abstract e Conferenze).







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