113 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. 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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5. 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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6. 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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7. 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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8. 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
9. 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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10. 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
11. 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
12. 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
13. Neurological outcome in three patients with combined methylmalonic aciduria and homocystinuria (CblC)
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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
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- 2008
14. Tetrahydrobiopterin (BH4) responsiveness and long-term treatment with BH4 in hyperphenyalaninemia
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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
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- 2008
15. Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene
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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.
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- 2013
16. Instrument for the test of the injectors based on the measuring of spray momentum
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Mariani, A., Postrioti, L., and Ungaro, C.
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- 2012
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17. The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia
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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.
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- 2012
18. Charcot-Marie-Tooth disease tipe 2A associate with two novel MFN2 mutations
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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
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- 2011
19. Apparently sporadic motor neuron disease in a family with a novel G61R SOD1 gene mutation: uncompleted penetrance or a chance association?
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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
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- 2010
20. Clinical and genetic study in an Italian family with neurofibromatosis type 1
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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.
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- 2010
21. Natural history of neurofibromatosis type 2 (NF2) in the paediatric age: a prospective clinical and molecular study
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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.
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- 2008
22. Monitoring Techniques for High Accuracy Interference Fit Assembly Processes.
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Liuti, A., Vedugo, F. Rodriguez, Paone, N., and Ungaro, C.
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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]
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- 2016
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23. A clinical and molecular study in a child under 1 year of age affected by Neurofibromatosis type 2
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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.
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- 2007
24. Analsysis of SMN1 gene copy number to detect SMA health carriers in Southern Italy Population
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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.
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- 2007
25. Spastin gene mutation in italian patients with pure and complicated forms of spastic paraplegia
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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.
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- 2007
26. 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., Marchini, A., Vitale, A., Ungaro, C., D’Amico, F., Gringeri, E., Neri, D., Bassi, D., Zanus, G., Carandina, R., Aliberti, C., and Cillo, U.
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- 2017
- Full Text
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27. 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., Marchini, A., Vitale, A., Ungaro, C., D’Amico, F., Gringeri, E., Neri, D., Bassi, D., Zanus, G., Carandina, R., Aliberti, C., and Cillo, U.
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- 2017
- Full Text
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28. Brachial Amyotrophic Diplegia associated with a novel SOD-1 mutation: a case report
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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.
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- 2004
29. Eighty novel mutations revealed by DHPLC analysis of the neurofibromatosis type 1(NF1) gene in southern Italian NF1 patients
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Gabriele, A. L., Ruggieri, Martino, Peluso, G., Sprovieri, T., Patitucci, A., Magariello, A., Mazzei, R., Conforti, F. L., Ungaro, C., Genovese, S., Ciancio, E., Muglia, M., and Eighty, A. Q. U. A. T. T. R. O. N. E.
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- 2004
30. Laparoscopic ablation and salvage transplantation for patients with hepatocellular carcinoma
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Cillo, U., Ungaro, C., Moustafa, M., D’Amico, F., Gringeri, E., Bassi, D., Neri, D., Zanus, G., Burra, P., Angeli, P., Farinati, F., Aliberti, C., Mescoli, C., and Vitale, A.
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- 2016
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31. Chronic diarrhea in mucopolysaccharidosis IIIB.
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Sibilio M, Miele E, Ungaro C, Astarita L, Turco R, Di Natale P, Pontarelli G, Vecchione R, Andria G, Staiano A, and Parenti G
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- 2009
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32. A case of galactosemia misdiagnosed as cow’s milk intolerance
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Casa Roberto, Ungaro Carla, Acampora Emma, Pignata Claudio, Vajro Pietro, Salerno Mariacarolina, Santamaria Francesca, and Parenti Giancarlo
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Galactosemia ,Cow’s milk intolerance ,Metabolic disease. ,Pediatrics ,RJ1-570 - Abstract
Abstract We report on a female patient affected by galactosemia in whom the diagnosis was obscured by the concomitant presence of manifestations suggesting a cow’s milk intolerance. This case exemplifies the problems in reaching a correct diagnosis in patients with metabolic diseases.
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- 2012
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33. FUS MUTATIONS IN SPORADIC AMYOTROPHIC LATERAL SCLEROSIS: CLINICAL AND GENETIC ANALYSIS
- Author
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Luigi Citrigno, Carmine Ungaro, Francesca Condino, William Sproviero, Francesca Luisa Conforti, Maria Rosaria Monsurrò, Maria Muglia, Carmelo Rodolico, Antonio Gambardella, Isabella Laura Simone, Vincenzo La Bella, Rosalucia Mazzei, Aldo Quattrone, Gioacchino Tedeschi, Angela Magariello, Francesco Bono, Giancarlo Logroscino, Paola Valentino, Alessandra Patitucci, Rossella Spataro, Sproviero, W., LA BELLA, V., Mazzei, R., Valentino, P., Rodolico, C., Simone, I., Logroscino, G., Ungaro, C., Magariello, A., Patitucci, A., Tedeschi, G., Spataro, R., Condino, F., Bono, F., Citrigno, L., Monsurrò, M., Muglia, M., Gambardella, A., Quattrone, A., Conforti, F., Sproviero, W, La Bella, V, Mazzei, R, Valentino, P, Rodolico, C, Simone, Il, Logroscino, G, Ungaro, C, Magariello, A, Patitucci, A, Tedeschi, Gioacchino, Spataro, R, Condino, F, Bono, F, Citrigno, L, Monsurro', Maria Rosaria, Muglia, M, Gambardella, A, Quattrone, A, and Conforti, F. L.
- Subjects
Male ,Aging ,Population ,DNA Mutational Analysis ,Biology ,Gene mutation ,medicine.disease_cause ,Genetic analysis ,FUS gene ,Mutant protein ,ALS ,mutation ,sporadic ,medicine ,Missense mutation ,Humans ,Genetic Predisposition to Disease ,Amyotrophic lateral sclerosis ,education ,Aged ,Genetics ,Aged, 80 and over ,Neurologic Examination ,Mutation ,education.field_of_study ,General Neuroscience ,Neurodegeneration ,Amyotrophic Lateral Sclerosis ,Exons ,Middle Aged ,Sporadic ,medicine.disease ,Magnetic Resonance Imaging ,Settore BIO/18 - Genetica ,RNA-Binding Protein FUS ,Female ,Settore MED/26 - Neurologia ,Neurology (clinical) ,Geriatrics and Gerontology ,Developmental Biology - Abstract
Fused in sarcoma (FUS) or translocation in liposarcoma (TLS), a DNA/RNA-binding protein, causes a dominant autosomal inherited form of amyotrophic lateral sclerosis (ALS), ALS 6. Its main role in neurodegeneration is highlighted by the presence of cytoplasmic accumulation of its mutant protein form in ALS patients. To further define the frequency and spectrum of FUS gene mutations, we have performed a molecular screening of a cohort of 327 Italian patients from Southern Italy with sporadic ALS (SALS). We identified 4 patients carrying 3 different missense mutations and several polymorphisms. Two different substitutions occurring in the same amino acidic position have been observed in 2 patients: R521G and R521C respectively; P525L mutation has been found in 2 additional cases. Most of the patients with FUS mutations showed early symptom onset and had short disease survival. We also detected 4 different polymorphic variants (3=-untranslated region [UTR] variant, c.*41G.A; c.52313ins[GAGGTG]; c.335-15del[TTTT]; and rs13331793) in 9 patients from within our cohort. This study underlines the importance of population-based mutation screening of newly identified genes. © 2011 Elsevier Inc. All rights reserved.
- Published
- 2012
34. Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy
- Author
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Maria Rosaria Monsurrò, Aldo Quattrone, Vincenzo La Bella, Maria Muglia, Isa Laura Simone, Angela Magariello, A. L. Gabriele, Carmine Ungaro, Luigi Citrigno, Gioacchino Tedeschi, Alessandra Patitucci, Rosalucia Mazzei, Paola Valentino, Stefano Zoccolella, Alessandro Tessitore, Francesco Bono, Teresa Sprovieri, G. Majorana, Francesca Luisa Conforti, Conforti, F., Sprovieri, T., Mazzei, R., Patitucci, A., Ungaro, C., Zoccolella, S., Magariello, A., LA BELLA, V., Tessitore, A., Tedeschi, G., Simone, I., Majorana, G., Valentino, P., Citrigno, L., Gabriele, A., Bono, F., Monsurrò, M., Muglia, M., Quattrone, A., LUISA CONFORTI, F, Sprovieri, T, Mazzei, R, Patitucci, A, Ungaro, C, Zoccolella, S, Magariello, A, Bella, Vl, Tessitore, Alessandro, Tedeschi, Gioacchino, Simone, Il, Majorana, G, Valentino, P, Citrigno, L, Gabriele, A, Bono, F, Monsurro', Maria Rosaria, and Muglia, M
- Subjects
Adult ,Male ,Genotype ,SOD1 ,DNA Mutational Analysis ,Genes, Recessive ,Biology ,Genetic analysis ,Superoxide dismutase ,Superoxide Dismutase-1 ,medicine ,Humans ,Genetic Predisposition to Disease ,Amyotrophic lateral sclerosis ,Gene ,De novo mutations ,Aged ,Genetics ,Superoxide Dismutase ,Amyotrophic Lateral Sclerosis ,SLA ,General Medicine ,Middle Aged ,medicine.disease ,Molecular biology ,Neurology ,Italy ,Mutation (genetic algorithm) ,Mutation ,biology.protein ,Female ,Neurology (clinical) - Abstract
Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state. We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation.
- Published
- 2009
35. A novel S379A TARDBP mutation associated to late-onset sporadic ALS
- Author
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Benedetta Perrone, Vincenzo La Bella, Carmine Ungaro, Rossella Spataro, Sebastiano Cavallaro, Francesca Luisa Conforti, Teresa Sprovieri, Giuseppina Daniela Naimo, Sprovieri T., Ungaro C., Perrone B., Naimo G.D., Spataro R., Cavallaro S., La Bella V., and Conforti F.L.
- Subjects
TDP-43 ,DNA-Binding Protein ,Mutation, Missense ,Late onset ,Dermatology ,Biology ,medicine.disease_cause ,Genetic analysis ,TARDBP ,03 medical and health sciences ,Exon ,0302 clinical medicine ,medicine ,Humans ,Missense mutation ,030212 general & internal medicine ,Amyotrophic lateral sclerosis ,Age of Onset ,Genetics ,Aged, 80 and over ,Mutation ,Amyotrophic Lateral Sclerosis ,General Medicine ,medicine.disease ,DNA-Binding Proteins ,Psychiatry and Mental health ,Female ,Neurology (clinical) ,Age of onset ,ALS ,030217 neurology & neurosurgery ,Amyotrophic Lateral Sclerosi ,Human - Abstract
Since 2008, several groups have reported a lot of dominant mutations in TARDBP gene as a primary cause of Amyotrophic lateral sclerosis (ALS). Mutations in TARDBP gene are responsible for 4–5% of familial ALS (fALS) and nearly 1% of sporadicALS(sALS). To date, over 50 dominant mutations were found in TDP-43 in both familial and sporadic ALS patients, most of which were missense mutations in the C-terminal glycine-rich region. Herein, we describe the clinical and genetic analysis of an Italian non-familial ALS patient with a late onset and a rapid disease progression, which led to the discovery of a novel TARDBP mutation. After neurological evaluation, molecular investigation highlighted the heterozygous substitution in exon 6 of TARDBP gene (S379A), which has previously neither been described nor reported in the ALS database. Several evidences supported the S379A mutation as causative in our patient: (a) it was neither found in ExAC nor 1000G and it was absent in our database of control subjects; (b) the position of the mutation involves an evolutionarily highly conserved residue; (c) two different amino acid substitutions in the same 379 codon were already reported in Swedish and Italian fALS cases, supporting the critical role of this codon for the protein function. The identification of this novel mutation enlarges the number of TARDBP mutations in ALS patients.
- Published
- 2019
36. A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
- Author
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Conforti, F.L., Sprovieri, T., Mazzei, R., Ungaro, C., La Bella, V., Tessitore, A., Patitucci, A., Magariello, A., Gabriele, A.L., Tedeschi, G., Simone, I.L., Majorana, G., Valentino, P., Condino, F., Bono, F., Monsurrò, M.R., Muglia, M., and Quattrone, A.
- Subjects
- *
AMYOTROPHIC lateral sclerosis , *GENETIC polymorphisms , *NEUROMUSCULAR diseases , *MOTOR neuron diseases - Abstract
Abstract: Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS. [Copyright &y& Elsevier]
- Published
- 2008
- Full Text
- View/download PDF
37. A case of galactosemia misdiagnosed as cow’s milk intolerance
- Author
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Carla Ungaro, Francesca Santamaria, Pietro Vajro, Claudio Pignata, Mariacarolina Salerno, Giancarlo Parenti, Roberto Della Casa, Emma Acampora, DELLA CASA, Roberto, Ungaro, C, Acampora, E, Pignata, Claudio, Vajro, P, Salerno, Mariacarolina, Santamaria, Francesca, and Parenti, G.
- Subjects
Galactosemias ,Pediatrics ,medicine.medical_specialty ,Case Report ,Diagnosis, Differential ,Lactose Intolerance ,Female patient ,medicine ,Animals ,Humans ,In patient ,Diagnostic Errors ,Lactose intolerance ,Metabolic disease ,business.industry ,Maternal and child health ,Galactosemia ,Infant, Newborn ,lcsh:RJ1-570 ,food and beverages ,lcsh:Pediatrics ,Milk intolerance ,medicine.disease ,cow milk intolerance ,Cow’s milk intolerance ,Concomitant ,Cattle ,Female ,Infant Food ,Differential diagnosis ,business - Abstract
We report on a female patient affected by galactosemia in whom the diagnosis was obscured by the concomitant presence of manifestations suggesting a cow’s milk intolerance. This case exemplifies the problems in reaching a correct diagnosis in patients with metabolic diseases.
- Published
- 2012
38. TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis
- Author
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Antonio Gambardella, V. La Bella, Angela Magariello, Teresa Sprovieri, G. Tedeschi, M. R. Monsurrò, A. L. Gabriele, Aldo Quattrone, Luigi Citrigno, F. Bono, Paola Valentino, William Sproviero, M. Muglia, Rosalucia Mazzei, Carmine Ungaro, Isabella Laura Simone, Francesca Luisa Conforti, Alessandra Patitucci, Conforti, Fl, Sproviero, W, Simone, Il, Mazzei, R, Valentino, P, Ungaro, C, Magariello, A, Patitucci, A, La Bella, V, Sprovieri, T, Tedeschi, Gioacchino, Citrigno, L, Gabriele, Al, Bono, F, Monsurro', Maria Rosaria, Muglia, M, Gambardella, A, and Quattrone, A.
- Subjects
Genetics ,Male ,SOD1 ,Amyotrophic Lateral Sclerosis ,Mutation, Missense ,RNA ,Biology ,Middle Aged ,medicine.disease ,TARDBP ,Molecular biology ,DNA-Binding Proteins ,Psychiatry and Mental health ,Exon ,Italy ,RNA splicing ,Mutation ,medicine ,Missense mutation ,Humans ,Surgery ,Female ,Neurology (clinical) ,Amyotrophic lateral sclerosis ,Gene - Abstract
TAR-DNA-binding protein 43 (TDP-43) has recently been identified as the major pathological protein in abnormal inclusions in neurons and glial cells in sporadic amyotrophic lateral sclerosis (SALS) and SOD1 negative familial cases with amyotrophic lateral sclerosis (FALS). TDP-43 is evolutionarily conserved, consisting of two RNA recognition motifs and a glycine-rich C-terminal domain. It is involved in the regulation of expression and splicing, and in other cellular processes such as microRNA biogenesis, apoptosis and cell division.1 2 Starting in early 2008, dominant mutations in TARDBP gene have been reported by several groups as a primary cause of ALS. To date, a total of 30 mutations of TARDBP have been reported not only in SOD1 -negative FALS cases (∼3%) but also in SALS cases (∼1.5%). All but one of the mutations identified (D169G) reside in exon 6 of the TARDBP gene, which encodes for the C-terminal glycine-rich domain of TDP-43. All of these mutations are dominantly inherited missense changes with the exception of a truncating mutation (Y374X) at the extreme C terminus of the protein.3 In this study, in order to investigate the presence and frequency of TARDBP mutations in a cohort of 310 south Italian patients affected by ALS, we performed a mutational screening of the exon 4 and exon 6 of the gene in SOD1 -negative FALS and SALS patients. …
- Published
- 2010
39. First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL
- Author
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Donata Guidetti, Francesca Luisa Conforti, Rosalucia Mazzei, Luigi Citrigno, Angela Magariello, Aldo Quattrone, Pier Luigi Lanza, A. L. Gabriele, Maria Muglia, Alessandra Patitucci, Carmine Ungaro, Patrizia Riguzzi, P. Preda, Teresa Sprovieri, Giovanna Cenacchi, 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.
- Subjects
Adult ,Pathology ,medicine.medical_specialty ,Mutation, Missense ,CADASIL ,Transient ischaemic attacks ,Biology ,Angiopathy ,INDEL Mutation ,medicine ,Missense mutation ,Humans ,Vascular dementia ,Receptor, Notch3 ,Receptors, Notch ,Vascular disease ,Brain ,CADASIL Syndrome ,medicine.disease ,Magnetic Resonance Imaging ,Migraine with aura ,Temporal Lobe ,Frontal Lobe ,Pedigree ,Psychiatry and Mental health ,Phenotype ,Surgery ,Female ,Neurology (clinical) ,medicine.symptom - Abstract
CADASIL (OMIM 125310) is an increasingly recognised adult-onset autosomal-dominant vascular disease that is characterised by recurrent transient ischaemic attacks and strokes (43% of patients), vascular dementia (6%), migraine with aura (40% of patients) and psychiatric disturbances (9% of patients); epilepsy has been reported in 2–10% of subjects.1 All patients revealed prominent signal abnormalities on brain magnetic resonance imaging (MRI)—leukoencephalopathy on T2- and small subcortical infarcts on T1-weighted images.2 The pathological hallmark of CADASIL is a non-amyloid and non-arteriosclerotic angiopathy, which predominantly affects the small penetrating brain arteries. Vascular lesions are characterised by degeneration and loss of smooth-muscle cells and by the presence of granular osmiophilic material (GOM) accumulating within the smooth-muscle-cell basement membrane and the surrounding extracellular matrix. Examination of several peripheral organs revealed vessel changes, including the presence of GOM deposits, providing evidence that CADASIL is a systemic arteriopathy.3 It has been reported that CADASIL is caused by single missense mutations, small in-frame deletions or splice-site mutations in the NOTCH3 gene encoding a transmembrane receptor (http://www.hgmd.cf.ac.uk/ac/gene.php?gene = NOTCH3). Almost all previously reported mutations resulted in an odd number of cysteine residues within one of the 34 epidermal growth factor (EGF)-like repeats in the …
- Published
- 2008
40. Vaccinations at home: a new strategy to contain vaccine hesitancy? The experience of ASL Napoli 1 Centro, Italy.
- Author
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Tesorone M, Ungaro C, Graziano L, Vitagliano A, Luminoso I, Corvino M, Papa M, and Verdoliva C
- Abstract
Abstract: Vaccination coverage are generally geographically variable, even within large cities; furthermore, across target population are embedded difficult-to-reach clusters. To address this issue and improve coverage of mandatory vaccinations, a study group explored bringing vaccination at home as an interventional strategy. In a pilot experience, parents of unvaccinated and under vaccinated children of the 2020 birth cohort living in Naples, Italy were contacted by telephone to offer home administration of vaccinations. A specifically trained team arranged vaccinations visits at home. Coverage rates were evaluated at baseline and one month after the intervention strategy. A significant positive increase in hexavalent vaccine (+1.43%) and measles-mumps-rubella (+1.85%) coverage was registered despite the short duration of the pilot program. Home vaccination turned out to be a medical resource consuming but feasible and successful strategy to increase mandatory vaccinations coverage among the most difficult-to-reach and fragile segments of the pediatric population.
- Published
- 2024
- Full Text
- View/download PDF
41. Author Correction: Laser-induced structural modification in calcium aluminosilicate glasses using molecular dynamic simulations.
- Author
-
Locker S, Goyal S, McKenzie ME, Sundaram SK, and Ungaro C
- Published
- 2021
- Full Text
- View/download PDF
42. Laser-induced structural modification in calcium aluminosilicate glasses using molecular dynamic simulations.
- Author
-
Locker S, Goyal S, McKenzie ME, Sundaram SK, and Ungaro C
- Abstract
Glass structures of multicomponent oxide systems (CaO-Al
2 O3 -SiO2 ) are studied using a simulated pulsed laser with molecular dynamics. The short- and intermediate-range order structures revealed a direct correlation between the transformation of Al(IV) to Al(V) , regions of increased density following laser processing, inherent reduction in the average T-O-T (T = Al, Si) angle, and associated elongation of the T-O bonding distance. Variable laser pulse energies were simulated across calcium aluminosilicate glasses with high silica content (50-80%) to identify densification trends attributed to composition and laser energy. High-intensity pulsed laser effects on fictive temperature and shockwave promotion are discussed in detail for their role in glass densification. Laser-induced structural changes are found to be highly dependent on pulse energy and glass chemistry.- Published
- 2021
- Full Text
- View/download PDF
43. Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis.
- Author
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Ungaro C, Sprovieri T, Morello G, Perrone B, Spampinato AG, Simone IL, Trojsi F, Monsurrò MR, Spataro R, La Bella V, Andò S, Cavallaro S, and Conforti FL
- Subjects
- Cohort Studies, DNA Repeat Expansion, Female, Humans, Italy, Male, Risk Factors, Time Factors, Amyotrophic Lateral Sclerosis genetics, Ataxin-1 genetics, C9orf72 Protein genetics, Genetic Association Studies, Genetic Variation genetics
- Abstract
Amyotrophic lateral sclerosis (ALS) is a multifactorial disease characterized by the interplay of genetic and environmental factors. In the majority of cases, ALS is sporadic, whereas familial forms occur in less than 10% of patients. Herein, we present the results of molecular analyses performed in a large cohort of Italian ALS patients, focusing on novel and already described variations in ALS-linked genes. Our analysis revealed that more than 10% of tested patients carried a mutation in one of the major ALS genes, with C9orf72 hexanucleotide expansion being the most common mutation. In addition, our study confirmed a significant association between ALS patients carrying the ATNX-1 intermediate repeat and the pathological C9orf72 expansion, supporting the involvement of this risk factor in neuronal degeneration. Overall, our study broadens the known mutational spectrum in ALS and provides new insights for a more accurate view of the genetic pattern of the disease., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF
44. Using phase-corrected Bessel beams to cut glass substrates with a chamfered edge.
- Author
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Ungaro C, Kaliteevskiy N, Sterlingov P, Ivanov VV, Boh Ruffin A, Terbrueggen RJ, and Savidis N
- Abstract
Ultrafast laser cutting of a glass substrate at an oblique angle is demonstrated using a phase-corrected Bessel beam. Simulations are used to predetermine the ideal phase of the incident Bessel beam such that an unaberrated Bessel beam is formed inside the tilted substrate. Additional corrections to the beam such as shortening, moving the intensity of the beam within the substrate, and the formation of an elliptical focal spot were necessary to ensure consistent chamfering of the substrate and are discussed herein. Three cuts are combined to create a damage tract in the glass substrate in the shape of a chamfer, and then the glass is separated using a C O
2 laser resulting in a chamfered edge.- Published
- 2021
- Full Text
- View/download PDF
45. Alternative Splicing of ALS Genes: Misregulation and Potential Therapies.
- Author
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Perrone B, La Cognata V, Sprovieri T, Ungaro C, Conforti FL, Andò S, and Cavallaro S
- Subjects
- Animals, Genome-Wide Association Study, Humans, Nerve Tissue Proteins metabolism, Alternative Splicing genetics, Amyotrophic Lateral Sclerosis genetics, Amyotrophic Lateral Sclerosis therapy, Nerve Tissue Proteins genetics
- Abstract
Neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Parkinson's, Alzheimer's, and Huntington's disease affect a rapidly increasing population worldwide. Although common pathogenic mechanisms have been identified (e.g., protein aggregation or dysfunction, immune response alteration and axonal degeneration), the molecular events underlying timing, dosage, expression, and location of RNA molecules are still not fully elucidated. In particular, the alternative splicing (AS) mechanism is a crucial player in RNA processing and represents a fundamental determinant for brain development, as well as for the physiological functions of neuronal circuits. Although in recent years our knowledge of AS events has increased substantially, deciphering the molecular interconnections between splicing and ALS remains a complex task and still requires considerable efforts. In the present review, we will summarize the current scientific evidence outlining the involvement of AS in the pathogenic processes of ALS. We will also focus on recent insights concerning the tuning of splicing mechanisms by epigenomic and epi-transcriptomic regulation, providing an overview of the available genomic technologies to investigate AS drivers on a genome-wide scale, even at a single-cell level resolution. In the future, gene therapy strategies and RNA-based technologies may be utilized to intercept or modulate the splicing mechanism and produce beneficial effects against ALS.
- Published
- 2020
- Full Text
- View/download PDF
46. A novel S379A TARDBP mutation associated to late-onset sporadic ALS.
- Author
-
Sprovieri T, Ungaro C, Perrone B, Naimo GD, Spataro R, Cavallaro S, La Bella V, and Conforti FL
- Subjects
- Age of Onset, Aged, 80 and over, Female, Humans, Mutation, Missense, Amyotrophic Lateral Sclerosis genetics, DNA-Binding Proteins genetics
- Abstract
Since 2008, several groups have reported a lot of dominant mutations in TARDBP gene as a primary cause of Amyotrophic lateral sclerosis (ALS). Mutations in TARDBP gene are responsible for 4-5% of familial ALS (fALS) and nearly 1% of sporadic ALS (sALS). To date, over 50 dominant mutations were found in TDP-43 in both familial and sporadic ALS patients, most of which were missense mutations in the C-terminal glycine-rich region. Herein, we describe the clinical and genetic analysis of an Italian non-familial ALS patient with a late onset and a rapid disease progression, which led to the discovery of a novel TARDBP mutation. After neurological evaluation, molecular investigation highlighted the heterozygous substitution in exon 6 of TARDBP gene (S379A), which has previously neither been described nor reported in the ALS database. Several evidences supported the S379A mutation as causative in our patient: (a) it was neither found in ExAC nor 1000G and it was absent in our database of control subjects; (b) the position of the mutation involves an evolutionarily highly conserved residue; (c) two different amino acid substitutions in the same 379 codon were already reported in Swedish and Italian fALS cases, supporting the critical role of this codon for the protein function. The identification of this novel mutation enlarges the number of TARDBP mutations in ALS patients.
- Published
- 2019
- Full Text
- View/download PDF
47. A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy.
- Author
-
Naimo GD, Guarnaccia M, Sprovieri T, Ungaro C, Conforti FL, Andò S, and Cavallaro S
- Subjects
- Anticonvulsants therapeutic use, Drug Resistant Epilepsy genetics, Humans, Pharmacogenomic Variants, Drug Resistant Epilepsy drug therapy, Genomics methods, Precision Medicine methods, Systems Biology methods
- Abstract
Epilepsy refers to a common chronic neurological disorder that affects all age groups. Unfortunately, antiepileptic drugs are ineffective in about one-third of patients. The complex interindividual variability influences the response to drug treatment rendering the therapeutic failure one of the most relevant problems in clinical practice also for increased hospitalizations and healthcare costs. Recent advances in the genetics and neurobiology of epilepsies are laying the groundwork for a new personalized medicine, focused on the reversal or avoidance of the pathophysiological effects of specific gene mutations. This could lead to a significant improvement in the efficacy and safety of treatments for epilepsy, targeting the biological mechanisms responsible for epilepsy in each individual. In this review article, we focus on the mechanism of the epilepsy pharmacoresistance and highlight the use of a systems biology approach for personalized medicine in refractory epilepsy.
- Published
- 2019
- Full Text
- View/download PDF
48. Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.
- Author
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Sprovieri T, Ungaro C, Sivo S, Quintiliani M, Contaldo I, Veredice C, Citrigno L, Muglia M, Cavalcanti F, Cavallaro S, Mercuri E, and Battaglia D
- Subjects
- Female, Heterozygote, Humans, Hyperekplexia genetics, Italy, Male, Maternal Inheritance, Paternal Inheritance, Pedigree, Penetrance, Phenotype, Sequence Analysis, DNA methods, High-Throughput Nucleotide Sequencing methods, Hyperekplexia diagnosis, Point Mutation, Receptors, Glycine genetics
- 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.
- Published
- 2019
- Full Text
- View/download PDF
49. Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?
- Author
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Ungaro C, Mazzei R, and Sprovieri T
- Subjects
- Cabo Verde, Humans, Mutation, Receptors, Cell Surface, Receptors, Immunologic genetics, Ophthalmoplegia, Chronic Progressive External, Scoliosis
- Published
- 2019
- Full Text
- View/download PDF
50. ALS and CHARGE syndrome: a clinical and genetic study.
- Author
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Ungaro C, Citrigno L, Trojsi F, Sprovieri T, Gentile G, Muglia M, Monsurrò MR, Tedeschi G, Cavallaro S, and Conforti FL
- Subjects
- Adult, C9orf72 Protein genetics, DNA Helicases genetics, DNA-Binding Proteins genetics, Female, High-Throughput Nucleotide Sequencing, Humans, Kinesins genetics, Amyotrophic Lateral Sclerosis genetics, CHARGE Syndrome genetics, Genetic Predisposition to Disease, Mutation
- Abstract
Amyotrophic Lateral Sclerosis and CHARGE syndrome are complex neurological disorders, which never occurred together in the same family and, to date, no putative correlation between them has been described on PubMed Central. Due to our aim was to evaluate the presence of different genetic variants involved in these pathologies, we reported a clinical and genetic description of two sisters affected by these two different disorders. In the CHARGE patient, molecular analysis of the CHD7 gene revealed the c.8016G >A de novo variant in exon 37. The ALS patient had been screened negative for mutations in SOD1, TARDBP, FUS/TLS, C9orf72 and KIF5A genes. Anyway, targeted next generation sequencing analysis identified known and unknown genetic variations in 39 ALS-related genes: a total of 380 variants were reported, of which 194 in the ALS patient and 186 in the CHARGE patient. To date, although the results suggest that the occurrence of the two syndromes in the same family is co-incidental rather than based on a causative genetic variant, we could hypothesize that other factors might act as modulators in the pathogenesis of these different phenotypes.
- Published
- 2018
- Full Text
- View/download PDF
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