MANDICH, PAOLA

MANDICH, PAOLA  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftamologia, Genetica e Scienze Materno-Infantili  

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17p11.2 duplication is a common finding in sporadic cases of charcot-marie-tooth type 1 1-gen-1994 Mancardi, G. L.; Uccelli, A.; Bellone, E.; Sghirlanzoni, A.; Mandich, P.; Pareyson, D.; Schenone, A.; Abbruzzese, M.; Ajmar, F.
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa. 1-gen-2017 Mandich, P; Lamp, M; Gotta, F; Gulli, R; Iacometti, A; Marchese, R; Bellone, E; Abbruzzese, G; Ferrandes, G
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. 1-gen-2002 Bellone, Emilia; Rodolico, C.; Toscano, A.; DI MARIA, Emilio; Cassandrini, D.; Pizzuti, A.; Pigullo, S.; Mazzeo, A.; Macaione, V.; Girlanda, P.; Vita, G.; Ajmar, Franco; Mandich, Paola
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. 1-gen-2011 Mandich, Paola; E., Majounie; A., Waite; J., Simón Sánchez; S., Rollinson; J. R., Gibbs; J. C., Schymick; H., Laaksovirta; J. C., Van; L., Myllykangas; H., Kalimo; A., Paetau; Y., Abramzon; A. M., Remes; A., Kaganovich; S. W., Scholz; J., Duckworth; J., Ding; D. W., Harmer; D. G., Hernandez; J. O., Johnson; K., Mok; M., Ryten; D., Trabzuni; R. J., Guerreiro; R. W., Orrell; J., Neal; A., Murray; J., Pearson; I. E., Jansen; D., Sondervan; H., Seelaar; D., Blake; K., Young; N., Halliwell; J. B., Callister; G., Toulson; A., Richardson; A., Gerhard; J., Snowden; D., Mann; D., Neary; M. A., Nalls; T., Peuralinna; L., Jansson; V., Isoviita; A., Kaivorinne; M., Hölttä Vuori; E., Ikonen; R., Sulkava; M., Benatar; J., Wuu; A., Chiò; G., Restagno; G., Borghero; M., Sabatelli; Mancardi, GIOVANNI LUIGI; D., Heckerman; E., Rogaeva; L., Zinman; J. D., Rothstein; M., Sendtner; C., Drepper; E. E., Eichler; C., Alkan; Z., Abdullaev; S. D., Pack; A., Dutra; E., Pak; J., Hardy; A., Singleton; N. M., Williams; P., Heutink; S., Pickering Brown; H. R., Morris; P. J., Tienari; B. J., Traynor
A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome). 1-gen-2010 Rongioletti, Franco; Fausti, V; Ferrando, B; Parodi, Aurora; Mandich, P; Pasini, B.
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 1-gen-1999 Bellone, Emilia; DI MARIA, Emilio; Soriani, S; Varese, A; Doria, Ll; Ajmar, Franco; Mandich, Paola
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 1-gen-2004 DI MARIA, Emilio; Gulli, R.; Balestra, P.; Cassandrini, D.; Pigullo, S.; DORIA LAMBA, L.; Bado, M.; Schenone, Angelo; Ajmar, Franco; Mandich, Paola; Bellone, Emilia
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 1-gen-2004 Santoro, L.; Manganelli, F.; DI MARIA, Emilio; Bordo, D.; Cassandrini, D.; Ajmar, Franco; Mandich, Paola; Bellone, Emilia
Adult polycystic kidney disease: prenatal diagnosis with DNA polymorphic markers. 1-gen-1991 Bellone, Emilia; Mandich, Paola; P., Costa; L., Dalerba; Ajmar, Franco
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 1-gen-2006 Bellone, Emilia; Balestra, P; Ribizzi, G; Schenone, Angelo; Zocchi, G; DI MARIA, Emilio; Ajmar, Franco; Mandich, Paola
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. 1-gen-2013 Giorgio, E; Rolyan, H; Kropp, L; Chakka, Ab; Yatsenko, S; Di Gregorio, E; Lacerenza, D; Vaula, G; Talarico, F; Mandich, Paola; Toro, C; Pierre, Ee; Labauge, P; Capellari, S; Cortelli, P; Vairo, Fp; Miguel, D; Stubbolo, D; Marques, Lc; Gahl, W; Boespflug Tanguy, O; Melberg, A; Hassin Baer, S; Cohen, Os; Pjontek, R; Grau, A; Klopstock, T; Fogel, B; Meijer, I; Rouleau, G; Bouchard, Jp; Ganapathiraju, M; Vanderver, A; Dahl, N; Hobson, G; Brusco, A; Brussino, A; Padiath, Qs
Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease 1-gen-1994 Novelletto, A.; Persichetti, F.; Sabbadini, G.; Mandich, Paola; Bellone, Emilia; Ajmar, Franco; Pergola, M.; DEL SENNO, L.; MAC DONALD, M.; Gusella, J.; Frontali, M.
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion 1-gen-2016 Chiò, A1; Mora, G2; Sabatelli, M3; Caponnetto, C4; Lunetta, C5; Traynor, Bj6; Johnson, Jo7; Nalls, Ma8; Calvo, A9; Moglia, C10; Borghero, G11; Trojsi, F12; La Bella, V13; Volanti, P14; Simone, I15; Salvi, F16; Logullo, Fo17; Riva, N18; Carrera, P19; Giannini, F20; Mandrioli, J21; Tanel, R22; Capasso, M23; Tremolizzo, L24; Battistini, S20; Murru, Mr25; Origone, P4; Zollino, M26; Penco, S27; Mazzini, L28; D'Alfonso, S29; Restagno, G30; Brunetti, M30; Barberis, M30; Conforti, Fl31; Logroscino, G; Bartolomei, I; Mancardi, GIOVANNI LUIGI; Mandich, Paola; Marinou, K; Sideri, R; Mosca, L; Pinter, Gl; Corbo, M; Fini, N; Fasano, A; Arosio, A; Ferrarese, C; Tedeschi, G; Monsurrò, Mr; Piccirillo, G; Femiano, C; Bersano, A; Corrado, L; Bagarotti, A; Spataro, R; Colletti, T; Conte, A; Luigetti, M; Lattante, S; Marangi, G; Santarelli, M; Petrucci, A; Ricci, C; Benigni, M; Casale, F; Marrali, G; Fuda, G; Ossola, I; Cammarosano, S; Ilardi, A; Manera, U; Bertuzzo, D; Tanel, R; Pisano, F; Costantino, E; Pani, C; Puddu, R; Caredda, C; Piras, V; Tranquilli, S; Cuccu, S; Corongiu, D; Melis, M; Milia, A; Marrosu, F; Marrosu, Mg; Floris, G; Cannas, A; Cuccu, S; Tranquilli, S; Ticca, A; Pugliatti, M; Pirisi, A; Parish, Ld; Occhineri, P; Ortu, E; Cau, Tb; Loi, D.
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. 1-gen-2015 Borghero, G; Pugliatti, M; Marrosu, F; Marrosu, Mg; Murru, Mr; Floris, G; Cannas, A; Parish, Ld; Cau, Tb; Loi, D; Ticca, A; Traccis, S; Manera, U; Canosa, A; Moglia, C; Calvo, A; Barberis, M; Brunetti, M; Renton, Ae; Nalls, Mal; Traynor, Bj; Restagno, G; Chiò, A; Logullo, Fo; Simone, I; Logroscino, G; Salvi, F; Bartolomei, I; Capasso, M; Caponnetto, C; Mancardi, G; Mandich, P; Origone, P; Conforti, F; Mora, G; Marinou, K; Sideri, R; Lunetta, C; Penco, S; Mosca, L; Nilo, R; Pinter, Gl; Corbo, M; Volanti, P; Mandrioli, J; Fini, N; Georgoulopoulou, E; Tremolizzo, L; Monsurrò, Mr; Tedeschi, G; Cristillo, V; la Bella, V; Spataro, R; Colletti, T; Sabatelli, M; Zollino, M; Conte, A; Luigetti, M; Lattante, S; Marangi, G; Santarelli, M; Petrucci, A; Giannini, F; Battistini, S; Ricci, C; Casale, F; Marrali, G; Fuda, G; Ossola, I; Cammarosano, S; Ilardi, A; Bertuzzo, D; Tanel, R; Pisano, F; Costantino, E; Pani, C; Puddu, R; Caredda, C; Piras, V; Tranquilli, S; Cuccu, S; Corongiu, D; Melis, M; Milia, A; Pirisi, A; Occhineri, P; Ortu, E.
Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease. 1-gen-1990 Mandich, Paola; G., Restagno; G., Novelli; Bellone, Emilia; L., Potenza; O., Varetto; B., Dallapiccola; A., Carbonara; Ajmar, Franco
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" 1-gen-2018 Grandis, M; Geroldi, A; Gulli, R; Manganelli, F; Gotta, F; Lamp, M; Origone, P; Trevisan, L; Gemelli, C; Fabbri, S; Schenone, A; Tozza, S; Santoro, L; Bellone, E; Mandich, P.
Bilateral motor and premotor cortex hypometabolism in a case of Mills syndrome 1-gen-2015 Scialò, Carlo; Morbelli, Silvia; Girtler, NICOLA GIOVANNI; Mandich, Paola; Mancardi, GIOVANNI LUIGI; Caponnetto, Claudia; Nobili, FLAVIO MARIANO
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. 1-gen-2012 Sabatelli, M; Conforti, Fl; Zollino, M; Mora, G; Monsurrò, Mr; Volanti, P; Marinou, K; Salvi, F; Corbo, M; Giannini, F; Battistini, S; Penco, S; Lunetta, C; Quattrone, A; Gambardella, A; Logroscino, G; Simone, I; Bartolomei, I; Pisano, F; Tedeschi, G; Conte, A; Spataro, R; La Bella, V; Caponnetto, C; Mancardi, G; Mandich, P; Sola, P; Mandrioli, J; Renton, Ae; Majounie, E; Abramzon, Y; Marrosu, F; Marrosu, Mg; Murru, Mr; Sotgiu, Ma; Pugliatti, M; Rodolico, C; Moglia, C; Calvo, A; Ossola, I; Brunetti, M; Traynor, Bj; Borghero, G; Restagno, G; Chiò, A.
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. 1-gen-2012 Lee, Jm; Ramos, Em; Lee, Jh; Gillis, T; Mysore, Js; Hayden, Mr; Warby, Sc; Morrison, P; Nance, M; Ross, Ca; Margolis, Rl; Squitieri, F; Orobello, S; Di Donato, S; Gomez-Tortosa, E; Ayuso, C; Suchowersky, O; Trent, Rj; Mccusker, E; Novelletto, A; Frontali, M; Jones, R; Ashizawa, T; Frank, S; Saint-Hilaire, Mh; Hersch, Sm; Rosas, Hd; Lucente, D; Harrison, Mb; Zanko, A; Abramson, Rk; Marder, K; Sequeiros, J; Paulsen, Js; Landwehrmeyer, Gb; Myers, Rh; Macdonald, Me; Gusella, Jf; Durr, A; Rosenblatt, A; Frati, L; Perlman, S; Conneally, Pm; Klimek, Ml; Diggin, M; Hadzi, T; Duckett, A; Ahmed, A; Allen, P; Ames, D; Anderson, C; Anderson, K; Anderson, K; Andrews, T; Ashburner, J; Axelson, E; Aylward, E; Barker, Ra; Barth, K; Barton, S; Baynes, K; Bea, A; Beall, E; Beg, Mf; Beglinger, Lj; Biglan, K; Bjork, K; Blanchard, S; Bockholt, J; Bommu, Sr; Brossman, B; Burrows, M; Calhoun, V; Carlozzi, N; Chesire, A; Chiu, E; Chua, P; Connell, Rj; Connor, C; Corey-Bloom, J; Craufurd, D; Cross, S; Cysique, L; Santos, Rd; Davis, J; Decolongon, J; Dipietro, A; Doucette, N; Downing, N; Dudler, A; Dunn, S; Ecker, D; Epping, Ea; Erickson, D; Erwin, C; Evans, K; Factor, Sa; Farias, S; Fatas, M; Fiedorowicz, J; Fullam, R; Furtado, S; Garde, Mb; Gehl, C; Geschwind, Md; Goh, A; Gooblar, J; Goodman, A; Griffith, J; Groves, M; Guttman, M; Hamilton, J; Harrington, D; Harris, G; Heaton, Rk; Helmer, K; Henneberry, M; Hershey, T; Herwig, K; Howard, E; Hunter, C; Jankovic, J; Johnson, H; Johnson, A; Jones, K; Juhl, A; Kim, Ey; Kimble, M; King, P; Klimek, Ml; Klöppel, S; Koenig, K; Komiti, A; Kumar, R; Langbehn, D; Leavitt, B; Leserman, A; Lim, K; Lipe, H; Lowe, M; Magnotta, Va; Mallonee, Wm; Mans, N; Marietta, J; Marshall, F; Martin, W; Mason, S; Matheson, K; Matson, W; Mazzoni, P; Mcdowell, W; Miedzybrodzka, Z; Miller, M; Mills, J; Miracle, D; Montross, K; Moore, D; Mori, S; Moser, Dj; Moskowitz, C; Newman, E; Nopoulos, P; Novak, M; O'Rourke, J; Oakes, D; Ondo, W; Orth, M; Panegyres, P; Pease, K; Perlman, S; Perlmutter, J; Peterson, A; Phillips, M; Pierson, R; Potkin, S; Preston, J; Quaid, K; Radtke, D; Rae, D; Rao, S; Raymond, L; Reading, S; Ready, R; Reece, C; Reilmann, R; Reynolds, N; Richardson, K; Rickards, H; Ro, E; Robinson, R; Rodnitzky, R; Rogers, B; Rosenblatt, A; Rosser, E; Rosser, A; Price, K; Price, K; Ryan, P; Salmon, D; Samii, A; Schumacher, J; Schumacher, J; Sendon, Jl; Shear, P; Sheinberg, A; Shpritz, B; Siedlecki, K; Simpson, Sa; Singer, A; Smith, J; Smith, M; Smith, G; Snyder, P; Song, A; Sran, S; Stephan, K; Stober, J; Sümuth, S; Suter, G; Tabrizi, S; Tempkin, T; Testa, C; Thompson, S; Thomsen, T; Thumma, K; Toga, A; Trautmann, S; Tremont, G; Tupper, D; Turner, J; Uc, E; Vaccarino, A; van Duijn, E; Van Walsem, M; Vik, S; Vonsattel, Jp; Vuletich, E; Warner, T; Wasserman, P; Wassink, T; Waterman, E; Weaver, K; Weir, D; Welsh, C; Werling-Witkoske, C; Wesson, M; Westervelt, H; Weydt, P; Wheelock, V; Williams, K; Williams, J; Wodarski, M; Wojcieszek, J; Wood, J; Wood-Siverio, C; Wu, S; Yastrubetskaya, O; de Yebenes, Jg; Zhao, Yq; Zimbelman, J; Zschiegner, R; Aaserud, O; Abbruzzese, G; Andrews, T; Andrich, J; Antczak, J; Arran, N; Artiga, Mj; Bachoud-Lévi, A; Banaszkiewicz, K; di Poggio, Mb; Bandmann, O; Barbera, Ma; Barker, Ra; Barrero, F; Barth, K; Bas, J; Beister, A; Bentivoglio, Ar; Bertini, E; Biunno, I; Bjørgo, K; Bjørnevoll, I; Bohlen, S; Bonelli, Rm; Bos, R; Bourne, C; Bradbury, A; Brockie, P; Brown, F; Bruno, S; Bryl, A; Buck, A; Burg, S; Burgunder, Jm; Burns, P; Burrows, L; Busquets, N; Busse, M; Calopa, M; Carruesco, Gt; Casado, Ag; Catena, Jl; Chu, C; Ciesielska, A; Clapton, J; Clayton, C; Clenaghan, C; Coelho, M; Connemann, J; Craufurd, D; Crooks, J; Cubillo, Pt; Cubo, E; Curtis, A; De Michele, G; De Nicola, A; de Souza, J; de Weert, A; de Yébenes, Jg; Dekker, M; Descals, A; Di Maio, L; Di Pietro, A; Dipple, H; Dose, M; Dumas, Em; Dunnett, S; Ecker, D; Elifani, F; Ellison-Rose, L; Elorza, Md; Eschenbach, C; Evans, C; Fairtlough, H; Fannemel, M; Fasano, A; Fenollar, M; Ferrandes, G; Ferreira, Jj; Fillingham, K; Finisterra, Am; Fisher, K; Fletcher, A; Foster, J; Foustanos, I; Frech, Fa; Fullam, R; Fullham, R; Gago, M; García, Rg; García, Ss; Garrett, C; Gellera, C; Gill, P; Ginestroni, A; Golding, C; Goodman, A; Gørvell, P; Grant, J; Griguoli, A; Gross, D; Guedes, L; Bascuñanaguerra, M; Guerra, Mr; Guerrero, R; Guia, Db; Guidubaldi, A; Hallam, C; Hamer, S; Hammer, K; Handley, Oj; Harding, A; Hasholt, L; Hedge, R; Heiberg, A; Heinicke, W; Held, C; Hernanz, Lc; Herranhof, B; Herrera, Cd; Hidding, U; Hiivola, H; Hill, S; Hjermind, Le; Hobson, E; Hoffmann, R; Holl, Ah; Howard, L; Hunt, S; Huson, S; Ialongo, T; Idiago, Jm; Illmann, T; Jachinska, K; Jacopini, G; Jakobsen, O; Jamieson, S; Jamrozik, Z; Janik, P; Johns, N; Jones, L; Jones, U; Jurgens, Ck; Kaelin, A; Kalbarczyk, A; Kershaw, A; Khalil, H; Kieni, J; Klimberg, A; Koivisto, Sp; Koppers, K; Kosinski, Cm; Krawczyk, M; Kremer, B; Krysa, W; Kwiecinski, H; Lahiri, N; Lambeck, J; Lange, H; Laver, F; Leenders, Kl; Levey, J; Leythaeuser, G; Lezius, F; Llesoy, Jr; Löhle, M; López, Cd; Lorenza, F; Loria, G; Magnet, M; Mandich, P; Marchese, R; Marcinkowski, J; Mariotti, C; Mariscal, N; Markova, I; Marquard, R; Martikainen, K; Martínez, Ih; Martínez-Descals, A; Martino, T; Mason, S; Mckenzie, S; Mechi, C; Mendes, T; Mestre, T; Middleton, J; Milkereit, E; Miller, J; Miller, J; Minster, S; Möller, Jc; Monza, D; Morales, B; Moreau, Lv; Moreno, Jl; Münchau, A; Murch, A; Nielsen, Je; Niess, A; Nørremølle, A; Novak, M; O'Donovan, K; Orth, M; Otti, D; Owen, M; Padieu, H; Paganini, M; Painold, A; Päivärinta, M; Partington-Jones, L; Paterski, L; Paterson, N; Patino, D; Patton, M; Peinemann, A; Peppa, N; Perea, Mf; Peterson, M; Piacentini, S; Piano, C; Pons, i Càrdenas R; Prehn, C; Price, K; Probst, D; Quarrell, O; Quiroga, Pp; Raab, T; Rakowicz, M; Raman, A; Raymond, L; Reilmann, R; Reinante, G; Reisinger, K; Retterstøl, L; Ribaï, P; Riballo, Av; Ribas, Gg; Richter, S; Rickards, H; Rinaldi, C; Rissling, I; Ritchie, S; Rivera, Sv; Robert, Mf; Roca, E; Romano, S; Romoli, Am; Roos, Ra; Røren, N; Rose, S; Rosser, E; Rosser, A; Rossi, F; Rothery, J; Rudzinska, M; Ruíz, Pj; Ruíz, Bg; Russo, Cv; Ryglewicz, D; Saft, C; Salvatore, E; Sánchez, V; Sando, Sb; Šašinková, P; Sass, C; Scheibl, M; Schiefer, J; Schlangen, C; Schmidt, S; Schöggl, H; Schrenk, C; Schüpbach, M; Schuierer, M; Sebastián, Ar; Selimbegovic-Turkovic, A; Sempolowicz, J; Silva, M; Sitek, E; Slawek, J; Snowden, J; Soleti, F; Soliveri, P; Sollom, A; Soltan, W; Sorbi, S; Sørensen, Sa; Spadaro, M; Städtler, M; Stamm, C; Steiner, T; Stokholm, J; Stokke, B; Stopford, C; Storch, A; Straßburger, K; Stubbe, L; Sulek, A; Szczudlik, A; Tabrizi, S; Taylor, R; Terol, Sd; Thomas, G; Thompson, J; Thomson, A; Tidswell, K; Torres, Mm; Toscano, J; Townhill, J; Trautmann, S; Tucci, T; Tuuha, K; Uhrova, T; Valadas, A; van Hout, Ms; van Oostrom, Jc; van Vugt, Jp; van Walsem, Mr; Vandenberghe, W; Verellen-Dumoulin, C; Vergara, Mr; Verstappen, Cc; Verstraelen, N; Viladrich, Cm; Villanueva, C; Wahlström, J; Warner, T; Wehus, R; Weindl, A; Werner, Cj; Westmoreland, L; Weydt, P; Wiedemann, A; Wild, E; Wild, S; Witjes-Ané, Mn; Witkowski, G; Wójcik, M; Wolz, M; Wolz, A; Wright, J; Yardumian, P; Yates, S; Yudina, E; Zaremba, J; Zaugg, Sw; Zdzienicka, E; Zielonka, D; Zielonka, E; Zinzi, P; Zittel, S; Zucker, B; Adams, J; Agarwal, P; Antonijevic, I; Beck, C; Chiu, E; Churchyard, A; Colcher, A; Corey-Bloom, J; Dorsey, R; Drazinic, C; Dubinsky, R; Duff, K; Factor, S; Foroud, T; Furtado, S; Giuliano, J; Greenamyre, T; Higgins, D; Jankovic, J; Jennings, D; Kang, Uj; Kostyk, S; Kumar, R; Leavitt, B; Ledoux, M; Mallonee, W; Marshall, F; Mohlo, E; Morgan, J; Oakes, D; Panegyres, P; Panisset, M; Perlman, S; Perlmutter, J; Quaid, K; Raymond, L; Revilla, F; Robertson, S; Robottom, B; Sanchez-Ramos, J; Scott, B; Shannon, K; Shoulson, I; Singer, C; Tabbal, S; Testa, C; van Kammen, D; Vetter, L; Walker, F; Warner, J; Weiner, W; Wheelock, V; Yastrubetskaya, O; Barton, S; Broyles, J; Clouse, R; Coleman, A; Davis, R; Decolongon, J; Delarosa, J.
Cancer genetic counselling 1-gen-2005 Mandich, Paola; P., Cavalli; B., Pasini