161 results on '"Ungaro C"'
Search Results
2. Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum
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Magariello, A., Citrigno, L., Zuchner, S., Gonzalez, M., Patitucci, A., Sofia, V., Conforti, F. L., Pappalardo, I., Mazzei, R., Ungaro, C., Zappia, M., and Muglia, M.
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- 2014
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3. Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial
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Lanfranconi, S., Scola, E., Bertani, G. A., Zarino, B., Pallini, Roberto, D'Alessandris, Quintino Giorgio, Mazzon, E., Marino, S., Carriero, M. R., Scelzo, E., Farago, G., Castori, M., Fusco, C., Petracca, A., D'Agruma, L., Tassi, L., D'Orio, P., Lampugnani, M. G., Nicolis, E. B., Vasami, A., Novelli, D., Torri, V., Meessen, J. M. T. A., Salman, R. A. -S., Dejana, E., Latini, R., Pignotti, Fabrizio, Sturiale, Carmelo Lucio, Albanese, Alessio, Valcamonica, G., Ronchi, D., Pogliani, S., De Grazia, U., Bossi, C., Ciurleo, R., Raggi, P., Simeone, A., Balconi, G., Foresta, A., Buratti, M. G., Carrara, M., Ojeda-Fernandez, M. L., Treglia, R., Maggioni, A. P., Beghi, E., Tettamanti, M., Regna-Gladin, C., Prelle, A., Mangiavacchi, M., Poloni, M., Lazzaroni, F., Malinverno, M., Ungaro, C., and Raucci, F.
- Subjects
Male ,Hemangioma, Cavernous, Central Nervous System ,Pediatrics ,medicine.medical_treatment ,Settore MED/27 - NEUROCHIRURGIA ,Medicine (miscellaneous) ,Anxiety ,Severity of Illness Index ,law.invention ,Study Protocol ,Mice ,0302 clinical medicine ,Randomized controlled trial ,law ,Medicine ,Pharmacology (medical) ,Prospective Studies ,Depression (differential diagnoses) ,0303 health sciences ,lcsh:R5-920 ,medicine.diagnostic_test ,Depression ,Propranolol ,Treatment Outcome ,Italy ,Models, Animal ,Disease Progression ,Female ,Epileptic seizure ,Safety ,medicine.symptom ,lcsh:Medicine (General) ,Intracranial Hemorrhages ,medicine.drug ,Adult ,medicine.medical_specialty ,Adrenergic beta-Antagonists ,Radiosurgery ,03 medical and health sciences ,Magnetic resonance imaging ,Cerebral cavernous malformation ,Animals ,Humans ,Adverse effect ,030304 developmental biology ,business.industry ,Case-Control Studies ,Quality of Life ,Nervous System Diseases ,business ,030217 neurology & neurosurgery - Abstract
Background Cerebral cavernous malformations (CCMs) are vascular malformations characterized by clusters of enlarged leaky capillaries in the central nervous system. They may result in intracranial haemorrhage, epileptic seizure(s), or focal neurological deficits, and potentially lead to severe disability. Globally, CCMs represent the second most common intracranial vascular malformation in humans, and their familial form (FCCMs) accounts for one-fifth of cases. Neurosurgical excision, and perhaps stereotactic radiosurgery, is the only available therapeutic option. Case reports suggest that propranolol might modify disease progression. Methods Treat_CCM is a prospective, randomized, open-label, blinded endpoint (PROBE), parallel-group trial involving six Italian clinical centres with central reading of brain magnetic resonance imaging (MRI) and adverse events. Patients with symptomatic FCCMs are randomized (2:1 ratio) either to propranolol (40–80 mg twice daily) in addition to standard care or to standard care alone (i.e. anti-epileptic drugs or headache treatments). The primary outcome is intracranial haemorrhage or focal neurological deficit attributable to CCMs. The secondary outcomes are MRI changes over time (i.e. de novo CCM lesions, CCM size and signal characteristics, iron deposition, and vascular leakage as assessed by quantitative susceptibility mapping and dynamic contrast enhanced permeability), disability, health-related quality of life, depression severity, and anxiety (SF-36, BDI-II, State-Trait Anxiety Inventory). Discussion Treat_CCM will evaluate the safety and efficacy of propranolol for CCMs following promising case reports in a randomized controlled trial. The direction of effect on the primary outcome and the consistency of effects on the secondary outcomes (even if none of them yield statistically significant differences) of this external pilot study may lead to a larger sample size in a definitive phase 2 trial. Trial registration ClinicalTrails.gov, NCT03589014. Retrospectively registered on 17 July 2018.
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- 2020
4. Instrument for the test of the injectors based on the measuring of spray momentum
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Mariani, A., primary, Postrioti, L., additional, and Ungaro, C., additional
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- 2012
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5. First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia
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Magariello, A., Tortorella, C., Patitucci, A., Tortelli, R., Liguori, M., Mazzei, R., Conforti, F. L., Citrigno, L., Ungaro, C., Simone, I. L., and Muglia, M.
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- 2013
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6. TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis
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Conforti, F L, Sproviero, W, Simone, I L, Mazzei, R, Valentino, P, Ungaro, C, Magariello, A, Patitucci, A, La Bella, V, Sprovieri, T, Tedeschi, G, Citrigno, L, Gabriele, A L, Bono, F, Monsurrò, M R, Muglia, M, Gambardella, A, and Quattrone, A
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- 2011
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7. A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL
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Ungaro, C., Servillo, P., Mazzei, Rosalucia, Consoli, D., Conforti, F. L., Sprovieri, T., Lanza, P. L., and Quattrone, A.
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- 2009
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8. A Novel Mutation in the X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene Associated With a Severe Rett Phenotype
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Sprovieri, T., Conforti, F. L., Fiumara, A., Mazzei, R., Ungaro, C., Citrigno, L., Muglia, M., Arena, A., and Quattrone, A.
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- 2009
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9. A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2
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Muglia, M, Magariello, A, Citrigno, L, Passamonti, L, Sprovieri, T, Conforti, F L, Mazzei, R, Patitucci, A, Gabriele, A L, Ungaro, C, Bellesi, M, and Quattrone, A
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- 2008
10. First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
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Mazzei, R, Guidetti, D, Ungaro, C, Conforti, F L, Muglia, M, Cenacchi, G, Lanza, P L, Patitucci, A, Sprovieri, T, Riguzzi, P, Magariello, A, Gabriele, A L, Citrigno, L, Preda, P, and Quattrone, A
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- 2008
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11. Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.
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Sprovieri, T, Ungaro, C, Sivo, Serena, Quintiliani, Michela, Contaldo, Ilaria, Veredice, Chiara, Citrigno, L, Muglia, M, Cavalcanti, F, Cavallaro, S, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata, Sivo S, Quintiliani M, Contaldo I, Veredice C, Mercuri E (ORCID:0000-0002-9851-5365), Battaglia D. (ORCID:0000-0003-0491-4021), Sprovieri, T, Ungaro, C, Sivo, Serena, Quintiliani, Michela, Contaldo, Ilaria, Veredice, Chiara, Citrigno, L, Muglia, M, Cavalcanti, F, Cavallaro, S, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata, Sivo S, Quintiliani M, Contaldo I, Veredice C, Mercuri E (ORCID:0000-0002-9851-5365), and Battaglia D. (ORCID:0000-0003-0491-4021)
- Abstract
BACKGROUND: Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle stiffness, which both gradually subside during the first months of life. Although the diagnosis of Hyperekplexia is based on clinical findings, pathogenic variants in five genes have been reported to cause Hyperekplexia, of which GLRA1 accounts for about 80% of cases. Dominant and recessive mutations have been identified in GLRA1 gene as pathogenic variants in many individuals with the familial form of Hyperekplexia and occasionally in simplex cases. CASE PRESENTATION: In the present study, we describe clinical and genetic features of two Italian siblings, one with the major and one with the minor form of the disease. DNA samples from the probands and their parents were performed by NGS approach and validated by Sanger sequencing. The analysis of the GLRA1 gene revealed, in both probands, compound heterozygous mutations: c.895C > T or p.R299X inherited from the mother and c.587C > A or p.D98E inherited from the father. CONCLUSIONS: Until now, these two identified mutations in GLRA1 have not been reported before as compound mutations. What clearly emerges within our study is the clinical heterogeneity in the same family. In fact, even though in the same pedigree, the affected mother showed only mild startle responses to unexpected noise stimuli, which might be explained by variable expressivity, while the father, showed no clear signs of symptomatology, which might be explained by non-penetrance. Finally, the two brothers have different form of the disease, even if the compound heterozygous mutations in GLRA1 are the same, showing that the same mutation in GLRA1 could have different phenotypic expressions and suggesting an underling mechanism of variable expressivity.
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- 2019
12. INTELLECTUAL OUTCOME IN CHILDREN WITH SUBCLINICAL HYPOTHYROIDISM: EFFECTS OF TWO YEARS OF LEVOTHYROXINE TREATMENT
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Alfano S. Polizzi M, Di Mase R, Ungaro C., Improda N, Capalbo D, Bravaccio C, Alfano S., Polizzi M, Di Mase, R, Ungaro, C., Improda, N, Capalbo, D, and Bravaccio, C
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- 2017
13. Search for heavy particles decaying into top-quark pairs using lepton-plus-jets events in proton-proton collisions at root s=13 TeV with the ATLAS detector
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Aaboud, M, Aad, G, Abbott, B, Abdinov, O, Abeloos, B, Abidi, SH, AbouZeid, OS, Abraham, NL, Abramowicz, H, Abreu, H, Abulaiti, Y, Acharya, BS, Adachi, S, Adamczyk, L, Adelman, J, Adersberger, M, Adiguzel, A, Adye, T, Affolder, AA, Afik, Y, Agheorghiesei, C, Aguilar-Saavedra, JA, Ahmadov, F, Aielli, G, Akatsuka, S, Akesson, TPA, Akilli, E, Akimov, AV, Alberghi, GL, Albert, J, Albicocco, P, Verzini, MJA, Alderweireldt, S, Aleksa, M, Aleksandrov, IN, Alexab, C, Alexander, G, Alexopoulos, T, Alhroob, M, Ali, B, Aliev, M, Alimontii, G, Alison, J, Alkire, SP, Allaire, C, Allbrooke, BMM, Allen, BW, Allport, PP, Aloisio, A, Alonso, A, Alonso, F, Alpigiani, C, Alshehri, AA, Alstaty, MI, Gonzalez, BA, Piqueras, DA, Alviggi, MG, Amadio, BT, Coutinho, YA, Ambroz, L, Amelung, C, Amidei, D, Dos Santos, SPA, Amoroso, S, Amrouche, CS, Anastopoulos, C, Ancu, LS, Andari, N, Andeen, T, Anders, CF, Anders, JK, Anderson, KJ, Andreazza, A, Andrei, V, Angelidakis, S, Angelozzi, I, Angerami, A, Anisenkov, AV, Annovi, A, Antel, C, Anthony, MT, Antonelli, M, Antrim, DJA, Anulli, F, Aoki, M, Bella, LA, Arabidze, G, Arai, Y, Araque, JP, Ferraz, VA, Pereira, RA, Arce, ATH, Ardell, RE, Arduh, FA, Arguin, J-F, Argyropoulos, S, Armbruster, AJ, Armitage, LJ, Arnaez, O, Arnold, H, Arratia, M, Arslan, O, Artamonov, A, Artoni, G, Artz, S, Asai, S, Asbah, N, Ashkenazi, A, Asimakopoulou, EM, Asquith, L, Assamagan, K, Astalos, R, Atkin, RJ, Atkinson, M, Atlay, NB, Augsten, K, Avolio, G, Avramidou, R, Axen, B, Ayoub, MK, Azuelos, G, Baas, AE, Baca, MJ, Bachacou, H, Bachas, K, Backes, M, Bagnaia, P, Bahmani, M, Bahrasemani, H, Bailey, AJ, Baines, JT, Bajic, M, Baker, OK, Bakker, PJ, Gupta, DB, Baldin, EM, Balek, P, Balli, F, Balunas, WK, Banas, E, Bandyopadhyay, A, Banerjee, S, Bannoura, AAE, Barak, L, Barbe, WM, Barberio, EL, Barberis, D, Barbero, M, Barillari, T, Barisits, M-S, Barkeloo, JT, Barklow, T, Barlow, N, Barnea, R, Barnes, SL, Barnett, BM, Barnett, RM, Barnovska-Blenessy, Z, Baroncelli, A, Barone, G, Barr, AJ, Navarro, LB, Barreiro, F, da Costa, JBG, Bartoldus, R, Barton, AE, Bartos, P, Basalaev, A, Bassalat, A, Bates, RL, Batista, SJ, Batlamous, S, Batley, JR, Battaglia, M, Bauce, M, Bauer, F, Bauer, KT, Bawa, HS, Beacham, JB, Beattie, MD, Beau, T, Beauchemin, PH, Bechtle, P, Beck, HC, Beck, HP, Becker, K, Becker, M, Becot, C, Beddall, A, Beddall, AJ, Bednyakov, VA, Bedognetti, M, Bee, CP, Beermann, TA, Begalli, M, Begel, M, Behera, A, Behr, JK, Bell, AS, Bella, G, Bellagamba, L, Bellerive, A, Bellomo, M, Belotskiy, K, Belyaev, NL, Benary, O, Benchekroun, D, Bender, M, Benekos, N, Benhammou, Y, Noccioli, EB, Benitez, J, Benjamin, DP, Benoit, M, Bensinger, JR, Bentvelsen, S, Beresford, L, Beretta, M, Berge, D, Kuutmann, EB, Berger, N, Bergsten, LJ, Beringer, J, Berlendis, S, Bernard, NR, Bernardi, G, Bernius, C, Bernlochner, FU, Berry, T, Berta, P, Bertella, C, Bertoli, G, Bertram, IA, Besjes, GJ, Bylund, OB, Bessner, M, Besson, N, Bethani, A, Bethke, S, Betti, A, Bevan, AJ, Beyer, J, Bianchi, RM, Biebel, O, Biedermann, D, Bielski, R, Bierwagen, K, Biesuz, NV, Biglietti, M, Billoud, TRV, Bindi, M, Bingul, A, Bini, C, Biondi, S, Bisanz, T, Biswal, JP, Bittrich, C, Bjergaard, DM, Black, JE, Black, KM, Blair, RE, Blazek, T, Bloch, I, Blocker, C, Blue, A, Blumenschein, U, Blunier, Bobbink, GJ, Bobrovnikov, VS, Bocchetta, SS, Bocci, A, Boerner, D, Bogavac, D, Bogdanchikov, AG, Bohm, C, Boisvert, V, Bokan, P, Bold, T, Boldyrev, AS, Bolz, AE, Bomben, M, Bona, M, Bonilla, JSB, Boonekamp, M, Borisov, A, Borissov, G, Bortfeldt, J, Bortoletto, D, Bortolotto, V, Boscherini, D, Bosman, M, Sola, JDB, Boudreau, J, Bouhova-Thacker, EV, Boumediene, D, Bourdarios, C, Boutle, SK, Boveia, A, Boyd, J, Boyko, IR, Bozson, AJ, Bracinik, J, Brahimi, N, Brandt, A, Brandt, G, Brandt, O, Braren, F, Bratzler, U, Brau, B, Brau, JE, Madden, WDB, Brendlinger, K, Brennan, AJ, Brenner, L, Brenner, R, Bressler, S, Brickwedde, B, Briglin, DL, Britton, D, Britzger, D, Brock, I, Brock, R, Brooijmans, G, Brooks, T, Brooks, WK, Brost, E, Broughton, JH, de Renstrom, PAB, Bruncko, D, Bruni, A, Bruni, G, Bruni, LS, Bruno, S, Brunt, BH, Bruschi, M, Bruscino, N, Bryant, P, Bryngemark, L, Buanes, T, Buat, Q, Buchholz, P, Buckley, AG, Budagov, IA, Buehrer, F, Bugge, MK, Bulekov, O, Bullock, D, Burch, TJ, Burdin, S, Burgard, CD, Burger, AM, Burghgrave, B, Burka, K, Burke, S, Burmeister, I, Burr, JTP, Buscher, D, Buscher, V, Buschmann, E, Bussey, P, Butler, JM, Buttar, CM, Butterworth, JM, Butti, P, Buttinger, W, Buzatu, A, Buzykaev, AR, Cabras, G, Urban, SC, Caforio, D, Cai, H, Cairo, VMM, Cakir, O, Calace, N, Calafiura, P, Calandri, A, Calderini, G, Calfayan, P, Callea, G, Caloba, LP, Lopez, SC, Calvet, D, Calvet, S, Calvet, TP, Calvetti, M, Toro, RC, Camarda, S, Camarri, P, Cameron, D, Armadans, RC, Camincher, C, Campana, S, Campanelli, M, Camplani, A, Campoverde, A, Canale, V, Bret, MC, Cantero, J, Cao, T, Cao, Y, Garrido, MDMC, Caprini, I, Caprini, M, Capua, M, Carbone, RM, Cardarelli, R, Cardillo, F, Carli, I, Carli, T, Carlino, G, Carlson, BT, Carminati, L, Carney, RMD, Caron, S, Carquin, E, Carra, S, Carrillo-Montoya, GD, Casadei, D, Casado, MP, Casha, AF, Casolino, M, Casper, DW, Castelijn, R, Gimenez, VC, Castro, NF, Catinaccio, A, Catmore, JR, Cattai, A, Caudron, J, Cavaliere, V, Cavallaro, E, Cavalli, D, Cavalli-Sforza, M, Cavasinni, V, Celebi, E, Ceradini, F, Alberich, LC, Cerqueira, AS, Cerri, A, Cerrito, L, Cerutti, F, Cervelli, A, Cetin, SA, Chafaq, A, Chakraborty, D, Chan, SK, Chan, WS, Chan, YL, Chang, P, Chapman, JD, Charlton, DG, Chau, CC, Barajas, CAC, Che, S, Chegwidden, A, Chekanov, S, Chekulaeva, SV, Au, GAC, Chelstowska, MA, Chena, C, Chen, C, Chen, H, Chen, J, Chen, S, Chen, X, Chen, Y, Chen, Y-H, Cheng, HC, Cheng, HJ, Cheplakov, A, Cheremushkina, E, El Moursli, RC, Cheu, E, Cheung, K, Chevalier, L, Chiarella, V, Chiarelli, G, Chioding, G, Chisholm, AS, Chitan, A, Chiu, I, Chiu, YH, Chizhov, MV, Choi, K, Chomont, AR, Chouridou, S, Chow, YS, Christodoulou, V, Chu, MC, Chudoba, J, Chuinard, AJ, Chwastowski, JJ, Chytka, L, Cinca, D, Cindro, V, Cioara, IA, Ciocio, A, Cirotto, F, Citron, ZH, Citterio, M, Clark, A, Clark, MR, Clark, PJ, Clement, C, Coadou, Y, Cobal, M, Coccaro, A, Cochran, J, Coimbra, AEC, Colasurdo, L, Cole, B, Colijn, AP, Collot, J, Muino, PC, Coniavitis, E, Connell, SH, Connelly, IA, Constantinescu, S, Conventi, F, Cooper-Sarkar, AM, Cormier, F, Cormier, KJR, Corradi, M, Corrigan, EE, Corriveau, F, Cortes-Gonzalez, A, Costa, MJ, Costanzo, D, Cottin, G, Cowan, G, Cox, BE, Crane, J, Cranmer, K, Crawley, SJ, Creager, RA, Cree, G, Crepe-Renaudin, S, Crescioli, F, Cristinziani, M, Croft, V, Crosetti, G, Cueto, A, Donszelmann, TC, Cukierman, AR, Curatolo, M, Cuth, J, Czekierda, S, Czodrowski, P, De Sousa, MJDCS, Da Via, C, Dabrowski, W, Dado, T, Dahbi, S, Dai, T, Dallaire, F, Dallapiccola, C, Dam, M, D'amen, G, Dandoy, JR, Daneri, MF, Dang, NP, Dann, ND, Danninger, M, Dao, V, Darbob, G, Darmora, S, Dartsi, O, Dattagupta, A, Daubney, T, D'Auria, S, Davey, W, David, C, Davidek, T, Davis, DR, Dawe, E, Dawson, I, De, K, de Asmundis, R, De Benedetti, A, DeCastro, S, De Cecco, S, De Groot, N, de Jong, P, De la Torre, H, De Lorenzi, F, DeMaria, A, De Pedis, D, De Salvo, A, De Sanctis, U, De Santo, A, Corga, KDV, De Regie, JBDV, Debenedetti, C, Dedovich, DV, Dehghanian, N, Del Gaudio, M, Del Peso, J, Delgove, D, Deliot, F, Delitzsch, CM, della Pietra, M, della Volpe, D, Dell'Acqua, A, Dell'Asta, L, Delmastro, M, Delporte, C, Delsart, PA, DeMarco, DA, Demers, S, Demichev, M, Denisov, SP, Denysiuk, D, D'Eramo, L, Derendarz, D, Derkaouid, JE, Derue, F, Dervan, P, Desch, K, Deterre, C, Dette, K, Devesa, MR, Deviveiros, PO, Dewhurst, A, Dhaliwal, S, Di Bello, FA, Di Ciaccio, A, Di Ciaccio, L, Di Clemente, WK, Di Donato, C, Di Girolamo, A, Di Micco, B, Di Nardo, R, Di Petrillo, KF, Di Simone, A, Di Sipio, R, Di Valentino, D, Diaconu, C, Diamond, M, Dias, FA, do Vale, TD, Diaz, MA, Dickinson, J, Diehl, EB, Dietrich, J, Cornell, SD, Dimitrievska, A, Dingfelder, J, Dittus, F, Djama, F, Djobava, T, Djuvsland, JI, do Vale, MAB, Dobre, M, Dodsworth, D, Doglioni, C, Dolejsi, J, Dolezal, Z, Donadelli, M, Donini, J, D'onofrio, A, D'Onofrio, M, Dopke, J, Doria, A, Dova, MT, Doyle, AT, Drechsler, E, Dreyer, E, Dreyer, T, Dris, M, Du, Y, Duarte-Campderros, J, Dubinin, F, Dubreuil, A, Duchovni, E, Duckeck, G, Ducourthial, A, Ducu, OA, Duda, D, Dudarev, A, Dudder, AC, Duffield, EM, Duflot, L, Duhrssen, M, Dulsen, C, Dumancic, M, Dumitriu, AE, Duncan, AK, Dunford, M, Duperrin, A, Yildiz, HD, Duren, M, Durglishvili, A, Duschinger, D, Dutta, B, Duvnjak, D, Dyndal, M, Dziedzic, BS, Eckardt, C, Ecker, KM, Edgar, RC, Eifert, T, Eigen, G, Einsweiler, K, Ekelof, T, El Kacimi, M, El Kosseifi, R, Ellajosyula, V, Ellert, M, Ellinghaus, F, Elliot, AA, Ellis, N, Elmsheuser, J, Elsing, M, Emeliyanov, D, Enari, Y, Ennis, JS, Epland, MB, Erdmann, J, Ereditato, A, Errede, S, Escalier, M, Escobar, C, 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Z, Rusakovich, NA, Russell, HL, Rutherfoord, JP, Ruthmann, N, Ruttinger, EM, Ryabov, YF, Rybar, M, Rybkin, G, Ryu, S, Ryzhov, A, Rzehorz, GF, Sabatini, P, Sabato, G, Sacerdoti, S, Sadrozinski, HF-W, Sadykov, R, Tehrani, FS, Saha, P, Sahinsoy, M, Saimpert, M, Saito, M, Saito, T, Sakamoto, H, Sakharov, A, Salamani, D, Salamannaa, G, Loyola, JES, Salek, D, De Bruin, PHS, Salihagic, D, Salnikov, A, Salt, J, Salvatore, D, Salvatore, F, Salvucci, A, Salzburger, A, Sammel, D, Sampsonidis, D, Sampsonidou, D, Sanchez, J, Pineda, AS, Sandaker, H, Sander, CO, Sandhoff, M, Sandoval, C, Sankey, DPC, Sannino, M, Sansoni, A, Santoni, C, Santos, H, Castillo, IS, Sapronov, A, Saraiva, JG, Sasaki, O, Sato, K, Sauvan, E, Savard, P, Savic, N, Sawada, R, Sawyer, C, Sawyer, L, Sbarra, C, Sbrizzi, A, Scanlon, T, Scannicchio, DA, Schaarschmidt, J, Schacht, P, Schachtner, BM, Schaefer, D, Schaefer, L, Schaeffer, J, Schaepe, S, Schafer, U, Schaffer, AC, Schaile, D, Schamberger, RD, Scharmberg, N, Schegelsky, VA, Scheirich, D, Schenck, F, Schernau, M, Schiavi, C, Schier, S, Schildgen, LK, Schillaci, ZM, Schioppa, EJ, Schioppa, M, Schleicher, KE, Schlenker, S, Schmidt-Sommerfeld, KR, Schmieden, K, Schmitt, C, Schmitt, S, Schmitz, S, Schnoor, U, Schoeffel, L, Schoeningb, A, Schopf, E, Schott, M, Schouwenberg, JFP, Schovancova, J, Schramm, S, Schuh, N, Schulte, A, Schultz-Coulon, H-C, Schumacher, M, Schumm, BA, Schune, P, Schwartzman, A, Schwarz, TA, Schweiger, H, Schwemling, P, Schwienhorst, R, Sciandra, A, Sciolla, G, Scornajenghi, M, Scuria, F, Scutti, F, Scyboz, LM, Searcy, J, Sebastiani, CD, Seema, P, Seidel, SC, Seiden, A, Seiss, T, Seixas, JM, Sekhniaidze, G, Sekhon, K, Sekula, SJ, Semprini-Cesari, N, Sen, S, Senkin, S, Serfon, C, Serin, L, Serkin, L, Sessa, M, Severini, H, Sforza, F, Sfyrla, A, Shabalina, E, Shahinian, JD, Shaikh, NW, Shan, LY, Shang, R, Shank, JT, Shapiro, M, Sharma, AS, Sharma, A, Shatalov, PB, Shaw, K, Shaw, SM, Shcherbakova, A, Shehu, CY, Shen, Y, Sherafati, N, Sherman, AD, Sherwood, P, Shi, L, Shimizu, S, Shimmin, CO, Shimojima, M, Shipsey, IPJ, Shirabe, S, Shiyakova, M, Shlomi, J, Shmeleva, A, Saadi, DS, Shochet, MJ, Shojaii, S, Shope, DR, Shrestha, S, Shulga, E, Sicho, P, Sickles, AM, Sidebo, PE, Haddad, ES, Sidiropoulou, O, Sidoti, A, Siegert, F, Sijacki, D, Silva, J, Jr, SM, Silversteina, SB, Simic, L, Simion, S, Simon, M, Sinervo, P, Sinev, NB, Sioli, M, Siragusa, G, Siral, I, Sivoklokov, SY, Sjolin, J, Skinner, MB, Skubic, P, Slater, M, Slavicek, T, Slawinska, M, Sliwa, K, Slovak, R, Smakhtin, V, Smart, BH, Smiesko, JE, Smirnov, N, Smirnov, SY, Smirnov, Y, Smirnova, LN, Smirnova, O, Smith, JW, Smith, MNK, Smith, RW, Smizanska, M, Smolek, K, Snesarev, AA, Snyder, IM, Snyder, S, Sobie, R, Soffa, AM, Soffer, A, Sogaard, A, Soh, DA, Sokhrannyi, G, Sanchez, CAS, Solar, M, Soldatov, EY, Soldevila, U, Solodkov, AA, Soloshenko, A, Solovyanov, OV, Solovyev, V, Sommer, P, Son, H, Song, W, Sopczak, A, Sopkova, F, Sosa, D, Sotiropoulou, CL, Sottocornola, S, Soualah, R, Soukharev, AM, South, D, Sowden, BC, Spagnolo, S, Spalla, M, Spangenberg, M, Spano, F, Sperlich, D, Spettel, F, Spieker, TM, Spighi, R, Spigo, G, Spiller, LA, Spousta, M, Stabile, A, Stamen, R, Stamm, S, Stanecka, E, Stanek, RW, Stanescu, C, Stanitzki, MM, Stapf, BS, Stapnes, S, Starchenko, EA, Stark, GH, Stark, J, Stark, SH, Staroba, P, Starovoitov, P, Starz, S, Staszewski, R, Stegler, M, Steinberg, P, Stelzer, B, Stelzer, HJ, Stelzer-Chilton, O, Stenzel, H, Stevenson, TJ, Stewart, GA, Stockton, MC, Stoicea, G, Stolte, P, Stonjek, S, Straessner, A, Strandberg, J, Strandberg, S, Strauss, M, Strizenec, P, Strohmer, R, Stroe, DM, Stroynowski, R, Strubig, A, Stucci, SA, Stugu, B, Stupak, J, Styles, NA, Su, D, Su, J, Suchek, S, Sugaya, Y, Suk, M, Sulin, VV, Sultan, DMS, Sultansoy, S, Sumida, T, Sun, S, Sun, X, Suruliz, K, Suster, CJE, Sutton, MR, Suzuki, S, Svatos, M, Swiatlowski, M, Swift, SP, Sydorenko, A, Sykora, I, Sykora, T, Ta, D, Tackmann, K, Taenzer, J, Taffard, A, Tafirouta, R, Tahirovic, E, Taiblum, N, Takai, H, Takashima, R, Takasugi, EH, Takeda, K, Takeshita, T, Takubo, Y, Talby, M, Talyshev, AA, Tanaka, J, Tanaka, M, Tanaka, R, Tanioka, R, Tannenwald, BB, Araya, ST, Tapprogge, S, Mohamed, ATA, Tarem, S, Tarna, G, Tartarelli, GF, Tas, P, Tasevsky, M, Tashiro, T, Tassi, E, Delgado, AT, Tayalati, Y, Taylor, AC, Taylor, AJ, Taylor, GN, Taylor, PTE, Taylor, W, Tee, AS, Teixeira-Dias, P, Temple, D, TenKate, H, Teng, PK, Teoh, JJ, Tepel, F, Terada, S, Terashi, K, Terron, J, Terzo, S, Testa, M, Teuscher, RJ, Thais, SJ, Theveneaux-Pelzer, T, Thiele, F, Thomas, JP, Thompson, AS, Thompson, PD, Thomsen, LA, Thomson, E, Tian, Y, TicseTorres, RE, Tikhomirov, VO, Tikhonov, YA, Timoshenko, S, Tipton, P, Tisserant, S, Todome, K, Todorova-Nova, S, Todt, S, Tojo, J, Tokara, S, Tokushuku, K, Tolley, E, Tomoto, M, Tompkins, L, Toms, K, Tong, B, Tornambe, P, Torrence, E, Torres, H, Pastor, ET, Tosciri, C, Toth, J, Touchard, F, Tovey, DR, Treado, CJ, Trefzger, T, Tresoldi, F, Tricoli, A, Trigger, IM, Trincaz-Duvoid, S, Tripiana, MF, Trischuk, W, Trocme, B, Trofymov, A, Troncon, C, Trovatelli, M, Trovato, F, Truong, L, Trzebinski, M, Trzupek, A, Tsai, F, Tseng, JC-L, Tsiareshka, PV, Tsirintanis, N, Tsiskaridze, V, Tskhadadze, EG, Tsukerman, II, Tsulaia, V, Tsuno, S, Tsybychev, D, Tu, Y, Tudorache, A, Tudorache, V, Tulbure, TT, Tuna, AN, Turchikhin, S, Turgeman, D, Cakir, IT, Turra, R, Tuts, PM, Tzovara, E, Ucchielli, G, Ueda, I, Ughetto, M, Ukegawa, F, Unal, G, Undrus, A, Unel, G, Ungaro, C, Unno, Y, Uno, K, Urban, J, Urquijo, P, Urrejola, P, Usai, G, Usui, J, Vacavant, L, Vacek, V, Vachon, B, Vadla, KOH, Vaidya, A, Valderanis, C, Santurio, EV, Valente, M, Valentinetti, S, Valero, A, Valery, L, Vallance, RA, Vallier, A, Ferrer, JAV, Van Daalen, TR, Van den Wollenberg, W, van der Graaf, H, van Gemmeren, P, van Nieuwkoop, J, van Vulpen, I, van Woerden, MC, Vanadia, M, Vandelli, W, Vaniachine, A, Vankov, P, Vari, R, Varnes, EW, Varni, C, Varol, T, Varouchas, D, Vartapetian, A, Varvell, KE, Vasquez, GA, Vasquez, JG, Vazeille, F, Furelos, DV, Schroeder, TV, Veatch, J, Vecchio, V, Veloce, LM, Veloso, F, Veneziano, S, Ventura, A, Venturi, M, Venturi, N, Vercesi, V, Verducci, M, Verkerke, W, Vermeulen, AT, Vermeulen, JC, Vetterli, MC, Maira, NV, Viazlo, O, Vichou, I, Vickey, T, Boeriu, OEV, Viehhauser, GHA, Viel, S, Villa, M, Perez, MV, Vilucchi, E, Vincter, MG, Vinogradov, VB, Vishwakarma, A, Vittori, C, Vivarelli, I, Vlachos, S, Vogel, M, Vokac, P, Volpi, G, Von Buddenbrock, SE, Von Toerne, E, Vorobel, V, Vorobev, K, Vos, M, Vossebeld, JH, Vranjes, N, Milosavljevic, MV, Vrba, V, Vreeswijk, M, Sfiligoj, T, Vuillermet, R, Vukotic, I, Zenis, T, Zivkovic, L, Wagner, P, Wagner, W, Wagner-Kuhr, J, Wahlberg, H, Wahrmund, S, Wakamiya, K, Walder, J, Walker, R, Walkowiak, W, Wallangen, V, Wang, AM, Wang, C, Wang, F, Wang, H, Wang, J, Wang, P, Wang, Q, Wang, R-J, Wang, R, Wang, SM, Wang, W, Wang, Y, Wang, Z, Wanotayaroj, C, Warburton, A, Ward, CP, Wardrope, DR, Washbrook, A, Watkins, PM, Watson, AT, Watson, MF, Watts, G, Watts, S, Waugh, BM, Webb, AF, Webb, S, Weber, C, Weber, MS, Weber, SA, Webster, JS, Weidberg, AR, Weinert, B, Weingarten, J, Weirich, M, Weiser, C, Wells, PS, Wenaus, T, Wengler, T, Wenig, S, Wermes, N, Werner, MD, Werner, P, Wessels, M, Weston, TD, Whalen, K, Whallon, NL, Wharton, AM, White, AS, White, A, White, MJ, Whiteson, D, Whitmore, BW, Wickens, FJ, Wiedenmann, W, Wielers, M, Wiglesworth, C, Wiik-Fuchs, LAM, Wildauer, A, Wilk, F, Wilkens, HG, Williams, HH, Williams, S, Willis, C, Willocq, S, Wilson, JA, Wingerter-Seez, I, Winkels, E, Winklmeier, F, Winston, OJ, Winter, BT, Wittgen, M, Wobisch, M, Wolf, A, Wolf, TMH, Wolff, R, Wolter, MW, Wolters, H, Wong, VWS, Woods, NL, Worm, SD, Wosiek, BK, Wozniak, KW, Wraight, K, Wu, M, Wu, SL, Wu, X, Wu, Y, Wyatt, TR, Wynne, BM, Xella, S, Xi, Z, Xia, L, Xu, D, Xu, H, Xu, L, Xu, T, Xu, W, Yabsley, B, Yacoob, S, Yajima, K, Yallup, DP, Yamaguchi, D, Yamaguchi, Y, Yamamoto, A, Yamanaka, T, Yamane, F, Yamatani, M, Yamazaki, T, Yamazaki, Y, Yan, Z, Yang, H, Yang, S, Yang, Y, Yang, Z, Yao, W-M, Yap, YC, Yasu, Y, Yatsenko, E, Ye, J, Ye, S, Yeletskikh, I, Yigitbasi, E, Yildirim, E, Yorita, K, Yoshihara, K, Young, CJS, Young, C, Yu, J, Yue, X, Yuen, SPY, Yusuff, I, Zabinski, B, Zacharis, G, Zaffaroni, E, Zaidan, R, Zaitsev, AM, Zakharchuk, N, Zalieckas, J, Zambito, S, Zanzi, D, Zaripovas, DR, Zeitnitz, C, Zemaityte, G, Zeng, JC, Zeng, Q, Zenin, O, Zerwas, D, Zgubic, M, Zhang, D, Zhang, F, Zhang, G, Zhang, H, Zhang, J, Zhang, L, Zhang, M, Zhang, P, Zhang, R, Zhang, X, Zhang, Y, Zhang, Z, Zhao, X, Zhao, Y, Zhao, Z, Zhemchugov, A, Zhou, B, Zhou, C, Zhou, L, Zhou, M, Zhou, N, Zhou, Y, Zhu, CG, Zhu, H, Zhu, J, Zhu, Y, Zhuang, X, Zhukov, K, Zhulanov, V, Zibell, A, Zieminska, D, Zimine, NI, Zimmermann, S, Zinonos, Z, Zinser, M, Ziolkowski, M, Zobernig, G, Zoccoli, A, Zoch, K, Zorbas, TG, Zou, R, Nedden, MZ, Zwalinski, L, and Collaboration, ATLAS
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Nuclear Theory ,High Energy Physics::Phenomenology ,High Energy Physics::Experiment ,Nuclear Experiment - Abstract
A search for new heavy particles that decay into top-quark pairs is performed using data collected from proton–proton collisions at a centre-of-mass energy of 13 TeV by the ATLAS detector at the Large Hadron Collider. The integrated luminosity of the data sample is 36.1 fb−1. Events consistent with top-quark pair production are selected by requiring a single isolated charged lepton, missing transverse momentum and jet activity compatible with a hadronic top-quark decay. Jets identified as likely to contain b-hadrons are required to reduce the background from other Standard Model processes. The invariant mass spectrum of the candidate top-quark pairs is examined for local excesses above the background expectation. No significant deviations from the Standard Model predictions are found. Exclusion limits are set on the production cross-section times branching ratio for hypothetical Z′ bosons, Kaluza–Kein gluons and Kaluza–Klein gravitons that decay into top-quark pairs.
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- 2018
14. CHARGE syndrome and ALS: a clinical and genetic study of a family from Southern Italy
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Ungaro C., Citrigno L., Gentile G., Patitucci A., Magariello A., Muglia M., Cavallaro S., Trojsi F., and Conforti F.L.
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ALS disease ,NGS ,Charge disease - Published
- 2017
15. High-accuracy interference-fit assembly utilizing a hybrid actuator
- Author
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Liuti, A., primary, Rodriguez Vedugo, F., additional, Paone, N., additional, and Ungaro, C., additional
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- 2017
- Full Text
- View/download PDF
16. Laparoscopic ablation for HCC: proposal of a 6-months mortality score for patient selection based on more than 1000 procedures
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Bertacco, A., primary, Marchini, A., additional, Vitale, A., additional, Ungaro, C., additional, D’Amico, F., additional, Gringeri, E., additional, Neri, D., additional, Bassi, D., additional, Zanus, G., additional, Carandina, R., additional, Aliberti, C., additional, and Cillo, U., additional
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- 2017
- Full Text
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17. The survival benefit of laparoscopic ablation over trans-arterial chemoembolization in patients with hepatocellular carcinoma ineligible for liver resection or percutaneous ablation
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Bertacco, A., primary, Marchini, A., additional, Vitale, A., additional, Ungaro, C., additional, D’Amico, F., additional, Gringeri, E., additional, Neri, D., additional, Bassi, D., additional, Zanus, G., additional, Carandina, R., additional, Aliberti, C., additional, and Cillo, U., additional
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- 2017
- Full Text
- View/download PDF
18. Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy
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Daniele A., Cardillo G., Pennino C., Ungaro C., Sibilio M., Esposito L, SCALA, IRIS, PARENTI, GIANCARLO, ZAGARI, ADRIANA, ANDRIA, GENEROSO, SALVATORE, FRANCESCO, Daniele, A., Scala, Iri, Cardillo, G., Pennino, C., Ungaro, C., Sibilio, M., Parenti, Giancarlo, Esposito, L, Zagari, Adriana, Andria, Generoso, and Salvatore, Francesco
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Adult ,Male ,Models, Molecular ,Adolescent ,Genotype ,Protein Conformation ,Molecular Sequence Data ,Phenylalanine Hydroxylase ,Phenotype ,Dihydropteridine Reductase ,Italy ,Child, Preschool ,Phenylketonurias ,Mutation ,Humans ,Female ,Amino Acid Sequence ,Child - Abstract
Hyperphenylalaninemia (Online Mendelian Inheritance in Man database: 261600) is an autosomal recessive disorder mainly due to mutations in the gene for phenylalanine hydroxylase; the most severe form of hyperphenylalaninemia is classic phenylketonuria. We sequenced the entire gene for phenylalanine hydroxylase in 51 unrelated hyperphenylalaninemia patients from Southern Italy. The entire locus was genotyped in 46 out of 51 hyperphenylalaninemia patients, and 32 different disease-causing mutations were identified. The pathologic nature of two novel gene variants, namely, c.707-2delA and p.Q301P, was demonstrated by in vitro studies. c.707-2delA is a splicing mutation that involves the accepting site of exon 7; it causes the complete skipping of exon 7 and results in the truncated p.T236MfsX60 protein. The second gene variant, p.Q301P, has very low residual enzymatic activity (approximately 4.4%), which may be ascribed, in part, to a low expression level (8-10%). Both the decreased enzyme activity and the low expression level are supported by analysis of the 3D structure of the molecule. The putative structural alterations induced by p.Q301P are compatible with protein instability and perturbance of monomer interactions within dimers and tetramers, although they do not affect the catalytic site. In vivo studies showed tetrahydrobiopterin responsiveness in the p.Q301P carrier but not in the c.707-2delA carrier. We next investigated genotype-phenotype correlations and found that genotype was a good predictor of phenotype in 76% of patients. However, genotype-phenotype discordance occurred in approximately 25% of our patients, mainly those bearing mutations p.L48S, p.R158Q, p.R261Q and p.P281L.
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- 2009
19. Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy
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DANIELE, Aurora, Scala I, Cardillo G, Pennino C, Ungaro C, Sibilio M, Parenti G, Esposito L, Zagari A, Andria G, Salvatore F., Daniele, Aurora, Scala, I, Cardillo, G, Pennino, C, Ungaro, C, Sibilio, M, Parenti, G, Esposito, L, Zagari, A, Andria, G, and Salvatore, F.
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Hyperphenylalaninemia ,Molecular epidemiology ,responsivene ,Phenylketonuria ,PAH structural alteration ,BH ,PAH mutation functional analysi - Abstract
Hyperphenylalaninemia (Online Mendelian Inheritance in Man ®database: 261600) is an autosomal recessive disorder mainly due to mutations in the gene for phenylalanine hydroxylase; the most severe form of hyperphenylalaninemia is classic phenylketonuria. We sequenced the entire gene for phenylalanine hydroxylase in 51 unrelated hyperphenylalaninemia patients from Southern Italy. The entire locus was genotyped in 46 out of 51 hyperphenylalaninemia patients, and 32 different disease-causing mutations were identified. The pathologic nature of two novel gene variants, namely, c.707-2delA and p.Q301P, was demonstrated by in vitro studies. c.707-2delA is a splicing mutation that involves the accepting site of exon 7; it causes the complete skipping of exon 7 and results in the truncated p.T236MfsX60 protein. The second gene variant, p.Q301P, has very low residual enzymatic activity (∼ 4.4%), which may be ascribed, in part, to a low expression level (8-10%). Both the decreased enzyme activity and the low expression level are supported by analysis of the 3D structure of the molecule. The putative structural alterations induced by p.Q301P are compatible with protein instability and perturbance of monomer interactions within dimers and tetramers, although they do not affect the catalytic site. In vivo studies showed tetrahydrobiopterin responsiveness in the p.Q301P carrier but not in the c.707-2delA carrier. We next investigated genotype-phenotype correlations and found that genotype was a good predictor of phenotype in 76% of patients. However, genotype-phenotype discordance occurred in approximately 25% of our patients, mainly those bearing mutations p.L48S, p.R158Q, p.R261Q and p.P281L. © 2009 FEBS.
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- 2009
20. Search for Scalar Diphoton Resonances in the Mass Range 65-600 GeV with the ATLAS Detector in pp Collision Data at root s=8 TeV
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Aad, G, Abbott, B, Abdallah, J, Khalek, S, Abdinov, O, Aben, R, Abi, B, Abolins, M, Abouzeid, O, Abramowicz, H, Abreu, H, Abreu, R, Abulaiti, Y, Acharya, B, Adamczyk, L, Adams, D, Adelman, J, Adomeit, S, Adye, T, Agatonovic Jovin, T, Aguilar Saavedra, J, Agustoni, M, Ahlen, S, Ahmadov, F, Aielli, G, Akerstedt, H, Akesson, T, Akimoto, G, Akimov, A, Alberghi, G, Albert, J, Albrand, S, Verzini, M, Aleksa, M, Aleksandrov, I, Alexa, C, Alexander, G, Alexandre, G, Alexopoulos, T, Alhroob, M, Alimonti, G, Alio, L, Alison, J, Allbrooke, B, Allison, L, Allport, P, Almond, J, Aloisio, A, Alonso, A, Alonso, F, Alpigiani, C, Altheimer, A, Gonzalez, B, Alviggi, M, Amako, K, Coutinho, Y, Amelung, C, Amidei, D, Dos Santos, S, Amorim, A, Amoroso, S, Amram, N, Amundsen, G, Anastopoulos, C, Ancu, L, Andari, N, Andeen, T, Anders, C, Anders, G, Anderson, K, Andreazza, A, Andrei, V, Anduaga, X, Angelidakis, S, Angelozzi, I, Anger, P, Angerami, A, Anghinolfi, F, Anisenkov, A, Anjos, N, Annovi, A, Antonaki, A, Antonelli, M, Antonov, A, Antos, J, Anulli, F, Aoki, M, Bella, L, Apolle, R, Arabidze, G, Aracena, I, Arai, Y, Araque, J, Arce, A, Arguin, J, Argyropoulos, S, Arik, M, Armbruster, A, Arnaez, O, Arnal, V, Arnold, H, Arratia, M, Arslan, O, Artamonov, A, Artoni, G, Asai, S, Asbah, N, Ashkenazi, A, Asman, B, Asquith, L, Assamagan, K, Astalos, R, Atkinson, M, Atlay, N, Auerbach, B, Augsten, K, Aurousseau, M, Avolio, G, Azuelos, G, Azuma, Y, Baak, M, Baas, A, Bacci, C, Bachacou, H, Bachas, K, Backes, M, Backhaus, M, Mayes, J, Badescu, E, Bagiacchi, P, Bagnaia, P, Bai, Y, Bain, T, Baines, J, Baker, O, Balek, P, Balli, F, Banas, E, Banerjee, S, Bannoura, A, Bansal, V, Bansil, H, Barak, L, Baranov, S, Barberio, E, Barberis, D, Barbero, M, Barillari, T, Barisonzi, M, Barklow, T, Barlow, N, Barnett, B, Barnett, R, Barnovska, Z, Baroncelli, A, Barone, G, Barr, A, Barreiro, F, da Costa, J, Bartoldus, R, Barton, A, Bartos, P, Bartsch, V, Bassalat, A, Basye, A, Bates, R, Batley, J, Battaglia, M, 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Wakabayashi, J, Walder, J, Walker, R, Walkowiak, W, Wall, R, Waller, P, Walsh, B, Wang, C, Wang, F, Wang, H, Wang, J, Wang, K, Wang, R, Wang, S, Wang, T, Wang, X, Wanotayaroj, C, Warburton, A, Ward, C, Wardrope, D, Warsinsky, M, Washbrook, A, Wasicki, C, Watkins, P, Watson, A, Watson, I, Watson, M, Watts, G, Watts, S, Waugh, B, Webb, S, Weber, M, Weber, S, Webster, J, Weidberg, A, Weigell, P, Weinert, B, Weingarten, J, Weiser, C, Weits, H, Wells, P, Wenaus, T, Wendland, D, Weng, Z, Wengler, T, Wenig, S, Wermes, N, Werner, M, Werner, P, Wessels, M, Wetter, J, Whalen, K, White, A, White, M, White, R, White, S, Whiteson, D, Wicke, D, Wickens, F, Wiedenmann, W, Wielers, M, Wienemann, P, Wiglesworth, C, Wiik Fuchs, L, Wijeratne, P, Wildauer, A, Wildt, M, Wilkens, H, Will, J, Williams, H, Williams, S, Willis, C, Willocq, S, Wilson, A, Wilson, J, Wingerter Seez, I, Winklmeier, F, Winter, B, Wittgen, M, Wittig, T, Wittkowski, J, Wollstadt, S, Wolter, M, Wolters, H, Wosiek, B, Wotschack, J, Woudstra, M, Wozniak, K, Wright, M, Wu, M, Sl, W, Wu, X, Wu, Y, Wulf, E, Wyatt, T, Wynne, B, Xella, S, Xiao, M, Xu, D, Xu, L, Yabsley, B, Yacoob, S, Yakabe, R, Yamada, M, Yamaguchi, H, Yamaguchi, Y, Yamamoto, A, Yamamoto, K, Yamamoto, S, Yamamura, T, Yamanaka, T, Yamauchi, K, Yamazaki, Y, Yan, Z, Yang, H, Yang, U, Yang, Y, Yanush, S, Yao, L, Yao, W, Yasu, Y, Yatsenko, E, Wong, K, Ye, J, Ye, S, Yeletskikh, I, Yen, A, Yildirim, E, Yilmaz, M, Yoosoofmiya, R, Yorita, K, Yoshida, R, Yoshihara, K, Young, C, Youssef, S, Dr, Y, Yu, J, Jm, Y, Yuan, L, Yurkewicz, A, Yusuff, I, Zabinski, B, Zaidan, R, Zaitsev, A, Zaman, A, Zambito, S, Zanello, L, Zanzi, D, Zeitnitz, C, Zeman, M, Zemla, A, Zengel, K, Zenin, O, Zenis, T, Zerwas, D, della Porta, G, Zhang, D, Zhang, F, Zhang, H, Zhang, J, Zhang, L, Zhang, X, Zhang, Z, Zhao, Z, Zhemchugov, A, Zhong, J, Zhou, B, Zhou, L, Zhou, N, Zhu, C, Zhu, H, Zhu, J, Zhu, Y, Zhuang, X, Zhukov, K, Zibell, A, Zieminska, D, Zimine, N, Zimmermann, C, Zimmermann, R, Zimmermann, S, Zinonos, Z, Ziolkowski, M, Zobernig, G, Zoccoli, A, zur Nedden, M, Zurzolo, G, Zutshi, V, and Zwalinski, L
- Subjects
Settore FIS/01 - Fisica Sperimentale - Published
- 2014
21. Neurological outcome in three patients with combined methylmalonic aciduria and homocystinuria (CblC)
- Author
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Sibilio M, DELLA CASA, ROBERTO, Romano A, Mansi G, Morrone A, Donati A, Fontana F, Minichini L, Ungaro C, Cavicchi C, Bruschini D, ANDRIA, GENEROSO, PARENTI, GIANCARLO, Sibilio, M, DELLA CASA, Roberto, Romano, A, Mansi, G, Morrone, A, Donati, A, Fontana, F, Minichini, L, Ungaro, C, Cavicchi, C, Bruschini, D, Andria, Generoso, and Parenti, Giancarlo
- Published
- 2008
22. Tetrahydrobiopterin (BH4) responsiveness and long-term treatment with BH4 in hyperphenyalaninemia
- Author
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Scala I, Ungaro C, Paladino S, Nastasi A, Zuppaldi A, Sibilio M, Figliuolo C, Scarpato E, Capaldo B, Cardillo G, Daniele A, DELLA CASA, ROBERTO, PARENTI, GIANCARLO, ANDRIA, GENEROSO, Scala, I, Ungaro, C, Paladino, S, Nastasi, A, Zuppaldi, A, Sibilio, M, Figliuolo, C, Scarpato, E, Capaldo, B, Cardillo, G, Daniele, A, DELLA CASA, Roberto, Parenti, Giancarlo, and Andria, Generoso
- Published
- 2008
23. Laparoscopic ablation and salvage transplantation for patients with hepatocellular carcinoma
- Author
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Cillo, U., primary, Ungaro, C., additional, Moustafa, M., additional, D’Amico, F., additional, Gringeri, E., additional, Bassi, D., additional, Neri, D., additional, Zanus, G., additional, Burra, P., additional, Angeli, P., additional, Farinati, F., additional, Aliberti, C., additional, Mescoli, C., additional, and Vitale, A., additional
- Published
- 2016
- Full Text
- View/download PDF
24. Monitoring techniques for high accuracy interference fit assembly processes
- Author
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Liuti, A., primary, Vedugo, F. Rodriguez, additional, Paone, N., additional, and Ungaro, C., additional
- Published
- 2016
- Full Text
- View/download PDF
25. Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene
- Author
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Tortelli R, Conforti FL, Cortese R, D'Errico E, Distaso E, Mazzei R, Ungaro C, Magariello A, Gambardella A, Logroscino G, and Simone IL.
- Published
- 2013
26. The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia
- Author
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Magariello A, Tortorella C, Citrigno L, Patitucci A, Tortelli R, Mazzei R, Conforti FL, Ungaro C, Sproviero W, Gambardella A, and Muglia M.
- Published
- 2012
27. Charcot-Marie-Tooth disease tipe 2A associate with two novel MFN2 mutations
- Author
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Muglia M, Patitucci A, Messina D, Magariello A, Nicoletti G, Mazzei R, Conforti F, Ungaro C, Citrigno L, Mikerezi I, Novellino F, and Gambardella A
- Published
- 2011
28. Apparently sporadic motor neuron disease in a family with a novel G61R SOD1 gene mutation: uncompleted penetrance or a chance association?
- Author
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Conforti, Fl, Barone, RITA MARIA ELISA, LO FERMO, S, Giliberto, C, Patti, Francesco, Sproviero, W, Mazzei, R, Ungaro, C, Gambardella, A, Quattrone, A, and Zappia, Mario
- Published
- 2010
29. Clinical and genetic study in an Italian family with neurofibromatosis type 1
- Author
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Gabriele, A. L., Ruggieri, Martino, Patitucci, A., Magariello, A., Mazzei, R., Conforti, Fl, Ungaro, C., DI PALMA, G., Citrigno, L., Sproviero, W., Gambardella, M. MUGLIA A., and Quattrone, A.
- Published
- 2010
30. A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1
- Author
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Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, Muglia M, Ungaro C, Di Palma G, Citrigno L, Sproviero W, Gambardella A, and Quattrone A.
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities - Abstract
PURPOSE: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an estimated incidence of one in 3,500 births. Clinically, NF1 is characterized by café-au-lait (CAL) spots, neurofibromas, freckling of the axillary or inguinal region, Lisch nodules, optic nerve glioma, and bone dysplasias. NF1 is caused by inactivating mutations of the 17q11.2-located NF1 gene. We present a clinical and molecular study of an Italian family with NF1. METHODS: The proband, a 10-year-old boy, showed large CAL spots and freckling on the axillary region and plexiform neurofibromas on the right side only. His father (47 years old) showed, in addition to the similar signs, numerous neurofibromas of various sizes on his thorax, abdomen, back, and shoulder. Two additional family members (a brother and a sister of the proband) presented only small CAL spots. The coding exons of NF1 gene were analyzed for mutations by denaturing high-performance liquid chromatography and sequencing in all family members. RESULTS: The mutational analysis of the NF1 gene revealed a novel frameshift insertion mutation in exon 4c (c.654 ins A) in all affected family members. This novel mutation creates a shift on the reading frame starting at codon 218 and leads to the introduction of a premature stop at codon 227. CONCLUSIONS: The segregation of the mutation with the affected phenotype and its absence in the 200 normal chromosomes suggest that it is responsible for the NF1 phenotype.
- Published
- 2010
31. Apparatus for Detecting Leakage of Fluid in Automobile Fuel Injectors
- Author
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Calabria R. 1, Massoli P. 1, and Ungaro C. 2
- Subjects
Fuel injector leakage ,testing apparatus ,optical diagnostics - Published
- 2009
32. Seizures and epilepsy in neurofibromatosis type 1 (NF1): a genotype-phenotype study
- Author
-
Gabriele, Al, Ruggieri, Martino, Iannetti, P., Patitucci, A., Magariello, A., Sprovieri, T., Mazzei, R., Conforti, Fl, Ungaro, C., Citrigno, L., Muglia, M., Clementi, M., Polizzi, A., Torrente, I., Elia, M., Pavone, L., and Quattrone, A.
- Published
- 2008
33. Rare pathogenic CADASIL-causing mutation on exon 22 of the NOTCH3 gene disclosed for the first time in an Italian patient
- Author
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Ungaro C, Servillo P, Consoli D, Sprovieri T, Conforti FL, Lanza PL, and Mazzei R.
- Published
- 2008
34. Natural history of neurofibromatosis type 2 (NF2) in the paediatric age: a prospective clinical and molecular study
- Author
-
Gabriele, Al, Ruggieri, Martino, Iannetti, P., Patitucci, A., Magariello, A., Sprovieri, T., Mazzei, R., Conforti, Fl, Ungaro, C., Muglia, M., Clementi, M., Polizzi, A., Torrente, I., Elia, M., Pavone, P., and Quattrone, A.
- Published
- 2008
35. Monitoring Techniques for High Accuracy Interference Fit Assembly Processes.
- Author
-
Liuti, A., Vedugo, F. Rodriguez, Paone, N., and Ungaro, C.
- Subjects
PRESS fits ,AUTOMOBILE industry ,DISPLACEMENT (Mechanics) ,MICROMETERS ,INDUSTRIAL costs ,PIEZOELECTRIC actuators ,VELOCITY measurements - Abstract
In the automotive industry, there are many assembly processes that require a high geometric accuracy, in the micrometer range; generally open-loop controllers cannot meet these requirements. This results in an increased defect rate and high production costs. This paper presents an experimental study of interference fit process, aimed to evaluate the aspects which have the most impact on the uncertainty in the final positioning. The press-fitting process considered, consists in a press machine operating with a piezoelectric actuator to press a plug into a sleeve. Plug and sleeve are designed and machined to obtain a known interference fit. Differential displacement and velocity measurements of the plug with respect to the sleeve are measured by a fiber optic differential laser Doppler vibrometer. Different driving signals of the piezo actuator allow to have an insight into the differences between a linear and a pulsating press action. The paper highlights how the press-fit assembly process is characterized by two main phases: the first is an elastic deformation of the plug and sleeve, which produces a reversible displacement, the second is a sliding of the plug with respect to the sleeve, which results in an irreversible displacement and finally realizes the assembly. The simultaneous measurements of the displacement and the force have permitted to define characteristic features in the signal useful to identify the start of the irreversible movement. These indicators could be used to develop a control logic in a press assembly process. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
- View/download PDF
36. A clinical and molecular study in a child under 1 year of age affected by Neurofibromatosis type 2
- Author
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Gabriele, Al, Ruggieri, Martino, Nucifora, C., Patitucci, A., Sprovieri, T., Magariello, A., Mazzei, R., Conforti, Fl, Ungaro, C., DI PALMA, G., Muglia, M., and Quattrone, A.
- Published
- 2007
37. Riscontro di nuova mutazione sul gene NOTCH 3 della CADASIL
- Author
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Terlizzi E, Mascolo A, Grosso R, Mazzei R, Porcari A, Ungaro C, Cenacchi G, Preda P, and Guidetti D.
- Published
- 2007
38. Analsysis of SMN1 gene copy number to detect SMA health carriers in Southern Italy Population
- Author
-
Patitucci, A., Mazzei, R. L., Muglia, M., Magariello, A., Conforti, Fl, Gabriele, Al, Sprovieri, T., Ungaro, C., Citrigno, L., DI PALMA, G., Valentino, P., Nisticò, R., Rodolico, Carmelo, Toscano, A., and Quattrone, A.
- Published
- 2007
39. Apparecchiatura per il rilevamento di perdite di liquido in iniettori per uso automobilistico
- Author
-
Calabria R. 1, Massoli P. 1, and Ungaro C. 2
- Published
- 2007
40. Charcot-Marie-Tooth X-linked: five novel mutations in Italian patients
- Author
-
Patitucci, A, Magariello, A., Gabriele, Al, Mazzei, R., Conforti, Fl, Sprovieri, T., Ungaro, C., Citrigno, L., Valentino, P., Rodolico, Carmelo, Mazzeo, Anna, Toscano, A., and Muglia, M.
- Published
- 2007
41. Spastin gene mutation in italian patients with pure and complicated forms of spastic paraplegia
- Author
-
Magariello, A, Muglia, M, Patitucci, A, Mazzei, R, Conforti, Fl, Gabriele, Al, Sprovieri, T, Ungaro, C, Citrigno, L, Gambardella, A, Bono, F, Piccoli, T, Patti, Francesco, Zappia, Mario, and Quattrone, A.
- Published
- 2007
42. Neurofibromatosis type2 (NF2) in children under 1 year of age: a clinical and molecular study
- Author
-
Gabriele AL, Ruggieri M, Lucifora C, Patitucci A, Sprovieri T, Magariello A, Mazzei R, Conforti FL, Ungaro C, and Muglia M
- Published
- 2006
43. A novel Notch3 gene mutation in a patient with CADASIL from Southern Italy
- Author
-
Ungaro C, Liguori M, Conforti FL, Sprovieri T, Di Palma G, Patitucci A, Magariello A, Gabriele AL, Muglia M, and Mazzei R.
- Published
- 2006
44. HNPP due to a novel frameshift mutation of PMP22 gene
- Author
-
Patitucci A, Muglia M, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, Magariello A, Mazzei R, Motti L, Saladini R, Sprovieri T, Marcello N, and Quattrone A.
- Published
- 2006
45. Could the expression of Jagged1 gene mutations play a role in modulatine a CADASIL-like phenotype?
- Author
-
Ungaro C, Sprovieri T, Conforti FL, Patitucci A, Magariello A, Gabriele AL, Muglia M, and Mazzei R.
- Published
- 2006
46. Two novel Notch3 mutations not involving cysteine residues in CADASIL patients
- Author
-
Mazzei R, Ungaro C, Liguori M, Conforti FL, Gambardella A, ° Sprovieri T, Patitucci A, Magariello A, Gabriele AL, Qualtieri A, and Muglia M.
- Published
- 2006
47. ANALYSIS OF SMN1 GENE COPY NUMBER TO DETECT SMA HEALTH CARRIERS IN SOUTHERN ITALY POPULATION
- Author
-
Patitucci, A., Mazzei, R., Muglia, M., Magariello, A., Conforti, Fl, Gabriele, Al, Sprovieri, T., Ungaro, C., Citrigno, L., Di Palma, G., Rodolico, Carmelo, Toscano, A., and Quattrone, A.
- Published
- 2006
48. Cinque nuove mutazioni nel gene Cx32 rivelate mediante DHPLC
- Author
-
Patitucci, A., Magariello, A., Gabriele, A. L., Mazzei, R., Conforti, F. L., Sprovieri, T., Ungaro, C., Citrigno, L., Valentino, P., Rodolico, Carmelo, Mazzeo, Anna, Toscano, A., and Muglia, M.
- Subjects
DHPLC ,CMT X-linked ,CX32 - Published
- 2005
49. Mutational analysis in NF1 patients screened for heart abnormalities
- Author
-
Gabriele, A. L., Ruggieri, Martino, Peluso, G., Lucifora, C., Matti, L., Sciacca, P., Sprovieri, T., Patitucci, A., Magariello, A., Mazzei, R., Conforti, F. L., Ungaro, C., and Muglia, M.
- Subjects
DHPLC ,NF1 GENE - Published
- 2005
50. Brachial Amyotrophic Diplegia associated with a novel SOD-1 mutation: a case report
- Author
-
Valentino, P, Conforti, Fl, Nistico', R, Pirritano, D, Mazzei, R, Patitucci, A, Magariello, A, Sprovieri, T, Gabriele, Al, Ungaro, C, Muglia, M, Clodomiro, A, Zappia, Mario, and Quattrone, A.
- Published
- 2004
Catalog
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