FRONTALI, MARINA

FRONTALI, MARINA  

FARMACOLOGIA TRASLAZIONALE - IFT  

Mostra records
Risultati 1 - 20 di 70 (tempo di esecuzione: 0.141 secondi).
Titolo Data di pubblicazione Autore(i) File
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome 1-gen-2000 Trettel, F; Mantuano, E; Calabresi, V; Veneziano, L; Olsen, AS; Georgescu, A; Gordon, L; Sabbadini, G; Frontali, M; Jodice, C
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 1-gen-2004 Spadaro, M; Ursu, S; Lehmannhorn, F; Veneziano, L; Antonini, G; Giunti, P; Frontali, M; Jurkatrott, K
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study. 1-gen-2003 Li, Jl; Hayden, Mr; Almqvist, Ew; Brinkman, Rr; Durr, A; Dode, C; Morrison, Pj; Suchowersky, O; Ross, Ca; Margolis, Rl; Rosenblatt, A; Gomeztortosa, E; Cabrero, Dm; Novelletto, A; Frontali, M; Nance, M; Trent, Rj; Mccusker, E; Jones, R; Paulsen, Js; Harrison, M; Zanko, A
A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature 1-gen-2014 Veneziano L.; Parkinson M.H.; Mantuano E.; Frontali M.; Bhatia K.P.; Giunti P.
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation 1-gen-2014 Veneziano, Liana; Mantuano, Elide; Catalli, Claudio; Gellera, Cinzia; Durr, Alexandra; Romano, Silvia; Spadaro, Maria; Frontali, Marina; Novelletto, Andrea
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. 1-gen-1997 Calandriello L; Veneziano L; Francia A; Sabbadini G; Colonnese C; Mantuano E; Jodice C; Trettel F; Viviani P; Manfredi M; Frontali M.
Another patient with 12q13 microduplication 1-gen-2013 Bertoli, M; Alesi, V; Gullotta, F; Zampatti, S; Abate, Mr; Palmieri, C; Novelli, A; Frontali, M; Nardone, Am
CAG repeat instability, cryptic sequence variation and pathogeneticity: Evidence from different loci 1-gen-1999 Frontali, M; Novelletto, A; Annesi, G; Jodice, C
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset 1-gen-2013 Ramos, Eliana Marisa; Latourelle, Jeanne C.; Gillis, Tammy; Mysore, Jayalakshmi S.; Squitieri, Ferdinando; Di Pardo, Alba; Di Donato, Stefano; Gellera, Cinzia; Hayden, Michael R.; Morrison, Patrick J.; Nance, Martha; Ross, Christopher A.; Margolis, Russell L.; GomezTortosa, Estrella; Ayuso, Carmen; Suchowersky, Oksana; Trent, Ronald J.; McCusker, Elizabeth; Novelletto, Andrea; Frontali, Marina; Jones, Randi; Ashizawa, Tetsuo; Frank, Samuel; SaintHilaire, MarieHelene; Hersch, Steven M.; Rosas, Herminia D.; Lucente, Diane; Harrison, Madaline B.; Zanko, Andrea; Abramson, Ruth K.; Marder, Karen; Gusella, James F.; Lee, JongMin; Alonso, Isabel; Sequeiros, Jorge; Myers, Richard H.; MacDonald, Marcy E.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): Clinical, neuroimaging, pathological and genetic study of a large Italian family 1-gen-1995 Sabbadini, G.; Francia, A.; Calandriello, L.; Biasi, C. Di; Trasimeni, G.; Gualdi, G. F.; Palladini, G.; Manfredi, M.; Frontali, M.
Clinical and genetic characteristics of late-onset Huntington's disease 1-gen-2018 Oosterloo, M; Bijlsma, Ek; van Kuijk, Sm; Minkels, F; de DieSmulders, Ce; Bachoudlevi, Ac; Bentivoglio, Ar; Biunno, I; Bonelli, Rm; Bronzova, J; Burgunder, Jm; Dunnett, Sb; Ferreira, Jj; Frich, J; Giuliano, J; Handley, Oj; Heiberg, A; Illarioshkin, S; Illmann, T; Klempir, J; Landwehrmeyer, Gb; Levey, J; Mclean, T; Nielsen, Je; Koivisto, Sp; Paivarinta, M; Palhagen, S; Quarrell, O; Ramosarroyo, M; Roos, Rac; Saft, C; Sebastian, Ar; Tabrizi, Sj; Vandenberghe, W; Verellendumoulin, C; Uhrova, T; Wahlstrom, J; Zaremba, J; formerly Rodig, Vb; Barth, K; Garde, Mb; Becanovic, K; Bernard, T; Betz, S; Bos, R; Come, A; Guedes, Lc; Callaghan, J; Capodarca, S; Charpentier, S; Vieira da Silva, W; Di Renzo, M; Ecker, D; Finisterra, Am; Fullam, R; Genoves, C; Gilling, M; Handley, Oj; Horta, A; Hvalstedt, C; Held, C; Hussain, H; Koppers, K; Lamanna, C; Laura, M; Descals, Am; Martinezhorta, S; Mestre, T; Minster, S; Monza, D; Munkel, K; Mutze, L; Oehmen, M; Padieu, H; Paterski, L; Peppa, N; Koivisto, Sp; Rindal, B; Rogers, D; Roren formerly Heinonen, N; Salgueiro, A; Sasinkova, P; Seliverstov, Y; Taylor, C; Timewell, E; Townhill, J; Cubillo, Pt; van Walsem, Mr; Witjesane, Mn; Witkowski, G; Wright, A; Yudina, E; Zielonka, D; Zielonka, E; Zinzi, P; Bonelli, Rm; Hecht, K; Herranhof, B; Holl formerly Hodl, A; Kapfhammer, Hp; Koppitz, M; Lilek, S; Magnet, M; Muller, N; Otti, D; Painold, A; Reisinger, K; Scheibl, M; Schoggl, H; Ullah, J; Braunwarth, Em; Brugger, F; Buratti, L; Hametner, Em; Hepperger, C; Holas, C; Hotter, A; Hussl, A; Larcher, B; Mahlknecht, P; Muller, C; Pinter, B; Poewe, W; Reiter, Em; Seppi, K; Sprenger, F; Wenning, G; Bonelli, Rm; Ladurner, G; Lilek, S; Sinadinosa, D; Staffen, W; Walleczek, Am; Linder, C; Pirker, W; Liessens, D; Calmeyn, G; Somers, N; Delvaux, I; Boogaerts, A; Flamez, A; de Raedt, S; Alaerts, N; Slama, H; Supiot, F; Constant, E; Gillardin, Af; Leonard, Mc; Verellendumoulin, C; van de Wyngaerde, F; Dupuis, M; Minet, C; Ribai, P; Van Paemel, D; Verellendumoulin, C; Boogaerts, A; Vandenberghe, W; van Reijen, D; Weckx, P; Kaiserova, M; Senkarova, Z; Bezdicek, O; Klempir, J; Klempirova, O; Majerovaibarburu, V; Nikolai, T; Roth, J; Starkova, I; Madsen, Lh; Moller, At; Hjermind, L; Jacobsen, O; Larsen, Iu; Lindquist, S; Nielsen, J; Regeur, L; Roos, P; Stockholm, J; Vangstedhansen, C; Vintherjensen, T; Lolk, A; Lundsgaard, M; Wermuth, L; Andersson, C; Nyberg, C; Sundblom, J; Peippo, M; Sipponen, M; Bruun, A; Hartikainen, P; Makipaa, S; Ollokainen, M; Aman, J; Karppa, M; Ignatius, J; Jaaskelainen, O; Kajula, O; Moilanen, J; Mustonen, A; Santala, M; Eklund, P; Hiivola, H; Hypponen, H; Martikainen, K; Ojala, M; Tahkapaa, S; Tuuha, K; Allain, P; Bonneau, D; Bost, M; Gohier, B; Guerid, Ma; Olivier, A; Prouzet, J; Prundean, A; Scherergagou, C; Verny, C; Babiloni, B; Bled, D; Debruxelles, S; Duche, C; Fraisse, S; Goizet, C; Jameau, L; Lafoucriere, D; Spampinato, U; Couttier, J; Debilly, B; Delaigue, C; Derost, P; Durif, F; Germain, V; Legendre, P; Loiseau, S; Marques, A; Ulla, M; Vidal, T; Bachoudlevi, Ac; Badei, F; Boisse, Mf; Boudali, L; Cleret de Langavant, L; Lemoine, L; Morgado, G; Youssov, K; Annic, A; Barthelemy, R; De Bruycker, C; Cabaret, M; Carette, As; Carriere, N; Decorte, E; Defebvre, L; Delliaux, M; Delval, A; Depelchin, A; Destee, A; Dewulfpasz, N; Dondaine, T; Dugauquier, F; Dujardin, K; Hopes, L; Krystkowiak, P; Lemaire, Mh; Manouvrier, S; Mutez, E; Peter, M; Plomhause, L; Sablonniere, B; Simonin, C; Tard, C; Thibaulttanchou, S; Vuillaume, I; Bellonet, M; Blin, S; Chen, S; Krystkowiak, P; Masmoudi, K; Morin, G; Roussel, M; Tir, M; Schuler, B; Wannepain, S; Zouitina, Y; Azulay, Jp; Delfini, M; Eusebio, A; Fluchere, F; Guenam, A; Mundler, L; Nguyen, K; Benaich, S; Brice, A; Boster, S; Charles, P; Durr, A; Ewenczyk, C; Francisque, H; Jauffret, C; Justo, D; Kassar, A; Klebe, S; Lesne, F; Milani, P; Monin, Ml; Monnier, T; Roze, E; Tataru, A; Tchikviladze, M; Bioux, S; Bliaux, E; Girard, C; Guyantmarechal, L; Hannequin, D; Hannier, V; Jourdain, S; Maltete, D; Pouliquen, D; Anheim, M; Barun, N; Laghaboukbiza, O; Longato, N; Marcel, C; Phillipps, C; Rudolf, G; Steinmetz, G; Tranchant, C; Wagner, C; Zimmermann, Ma; Blondeau, L; Calvas, F; Cheriet, S; Delabaere, H; Demonet, Jf; Marquine, L; Pariente, J; Pierre, M; Pomies, E; Rolland, S; Souyris, C; Kosinski, Cm; Milkereit, E; Probst, D; Reetz, K; Sass, C; Schiefer, J; Schlangen, C; Werner, Cj; Beuth, M; Gelderblom, H; Priller, J; Pruss, H; Spruth, E; Thiel, S; Andrich, J; Ellrichmann, G; Herrmann, L; Hoffmann, R; Kaminski, B; Kraus, P; Saft, C; Stamm, C; Ganos, C; Stubbe, L; Tadic, V; Tubing, J; Lange, H; Bosredon, C; Hunger, U; Lohle, M; Maass, A; Ossig, C; Schmidt, S; Storch, A; Wolz, A; Wolz, M; Kohl, Z; Kozay, C; Ullah, J; Winkler, J; Bergmann, U; Boringer, R; Capetian, P; Kammel, G; Lambeck, J; Machtel, M; Meier, S; Rijntjes, M; Zucker, B; Boelmans, K; Ganos, C; Goerendt, I; Heinicke, W; Hidding, U; Lewerenz, J; Munchau, A; Orth, M; Schmalfeld, J; Stubbe, L; Zittel, S; Diercks, G; Dressler, D; Francis, F; Gaydestephan, S; Gorzolla, H; Kramer, B; Minschke, R; Schrader, C; Tacik, P; Ribbat, M; Longinus, B; Moller, C; Burk, K; Lusebrink, A; Muhlau, M; Peinemann, A; Stadtler, M; Weindl, A; Winkelmann, J; Ziegler, C; Bechtel, N; Beckmann, H; Bohlen, S; Gopfert, N; Holzner, E; Lange, H; Reilmann, R; Rohm, S; Rumpf, S; Sass, C; Schepers, S; Weber, N; Bachmeier, M; Dose, M; Hofstetter, N; Marquard, R; Muhlback, A; Barth, K; Buck, A; Connemann, J; Ecker, D; Geitner, C; Held, C; Kesse, A; Landwehrmeyer, B; Lezius, F; Lewerenz, J; Nepper, S; Niess, A; Orth, M; Schneider, A; Schwenk, D; Sussmuth, S; Trautmann, S; Vogel, M; Weydt, P; Klebe, S; Musacchio, T; Leypold, C; Noth, K; Cormio, C; Difruscolo, O; Franco, G; Nuzzi, A; Sciruicchio, V; Serpino, C; de Tommaso, M; Calandrabuonaura, G; Capellari, S; Cortelli, P; Gallassi, R; Poda, R; Scaglione, C; Agosti, C; Barlati, S; Compostella, S; Marchina, E; Padovani, A; Figorilli, M; Marrosu, F; Muroni, A; Piras, V; Vacca, M; Bertini, E; Bartoli, C; Fortunato, F; Ghelli, E; Ginestroni, A; Mechi, C; Paganini, M; Piacentini, S; Pradella, S; Romoli, Am; Sorbi, S; Abbruzzese, G; Bandettini di Poggio, M; Ferrandes, G; Mandich, P; Marchese, R; Di Maria, E; Tamburini, T; Albanese, A; Castagliuolo, S; Castaldo, A; Di Donato, S; Di Bella, D; Gellera, C; Genitrini, S; Mariotti, C; Monza, D; Nanetti, L; Panzeri, M; Paridi, D; Soliveri, P; Spagnolo, F; Taroni, F; Tomasello, C; De Michele, G; Di Maio, L; Rinaldi, C; Massarelli, M; Peluso, S; Roca, A; Russo, Cv; Salvatore, E; Sorrentino, P; Tucci, T; Cannella, M; Codella, V; De Gregorio, F; De Nicola, A; Elifani, F; Esposito, C; Martino, T; Mazzante, I; Petrollini, M; Simonelli, M; Vezza, M; Squitieri, F; D'Alessio, B; Lovo, F; Bentivoglio, Ar; Bove, F; Catalli, C; Di Giacopo, R; Fasano, A; Frontali, M; Guidubaldi, A; Ialongo, T; Jacopini, G; Loria, G; Modoni, A; Petracca, M; Piano, C; Chiara, P; Quaranta, D; Romano, S; Soleti, F; Solito, M; Spadaro, M; Torlizzi, F; Zinzi, P; Coarelli, G; Ferraldeschi, M; Frontali, M; Jacopini, G; Ristori, G; Romano, S; Zinzi, P; van Hout, Mse; van Vugt, Jpp; Marit de Weert, A; Verhoeven, M; Dekker, M; Klooster, J; Leenders, N; van Oostrom, J; Kremer, B; Baake, V; van den Bogaard, Sja; Bos, R; Dumas, Em; t Hart, Ep; Hogenboom, M; Jacobs, M; Jurgens, C; Kampstra, A; Roos, Rac; Schoonderbeek, A; Witjesane, Mn; Duits, A; Oosterloo, M; Waber, M; Kremer, B; Verstappen, C; Blinkenberg, Eo; Hauge, E; Tyvoll, H; Aaserud, O; Aanonsen, No; Bjorgo, K; Borgerod, N; Dramstad, E; Fannemel, M; Frich, Jc; Gorvell, Pf; Haggag, K; Johannessen, Ch; Heiberg, A; Retterstol, L; Rosby, O; Rummel, J; Sikiric, A; Stokke, B; van Walsem, M; Wehus, R; Arntsen, V; Bjornevoll, I; Sando, Sb; Haug, Mg; Storseth, Hh; Ostern, R; Paulsen, J; Dziadkiewicz, A; Konkel, A; Narozanska, E; Nowak, M; Robowski, P; Sitek, E; Slawek, J; Soltan, W; Szinwelski, M; Arkuszewski, M; Blaszczyk, M; Boczarskajedynak, M; Ciachwysocka, E; Gorzkowska, A; Jasinskamyga, B; Kaczmarczyk, A; Klodowska Duda, G; Opala, G; Rudzinska, M; Stompel, D; Banaszkiewicz, K; Bocwinska, D; Bojakowskajaremek, K; Dec, M; Grabska, N; Krawczyk, M; Kubowicz, E; Maleclitwinowicz, M; Rudzinska, M; Stenwak, A; Szczudlik, A; Szczygiel, E; Wojcik, M; Wasielewska, A; Anna Bryl, Ja; Ciesielska, A; Klimberg, A; Marcinkowski, J; Samara, H; Sempolowicz, J; Wisniewski, B; Zielonka, D; Gogol formerly Kalbarczyk, A; Janik, P; Jamrozik, Z; Kaminska, A; Kwiecinski, H; Antczak, J; Jachinska, K; Krysa, W; Rakowicz, M; Rola, R; Ryglewicz, D; Sienkiewiczjarosz, H; Stepniak, I; Sulek, A; Witkowski, G; Zaremba, J; Zdzienicka, E; Ziorajakutowicz, K; Januario, C; Julio, F; Almeida, M; Calado, A; Dias, M; Morgado, J; Semedo, C; Guedes, Lc; Coelho, M; Ferreira, Jj; Magalhaes, A; Mestre, T; Mendes, T; Neutel, D; Rodrigues, F; Valadas, A; Costa, C; Cardoso, H; Mendes, T; Santos, M; Cacao, G; Cavaco, S; Damasio, J; Fernandes, J; Goncalves, A; Loureiro, R; Moreira, I; Magalhaes, M; Salgado, P; Andrade, C; Costa, A; Garrett, C; Gago, M; Guimaraes, J; Massano, J; Meireles, J; Monteiro, A; Khasanova, D; Zalyalova, Z; Illarioshkin, S; Klyushnikov, S; Sidorova, O; Smirnov, O; Yudina, E; Seliverstov, Y; Antonova, V; Kopishinskaya, S; Korotysh, M; Magzhanov, R; Saifullina, E; Kurbatov, S; Solis, P; Herrera, Cd; Moreno, Pg; Bas, J; Busquets, N; Calopa, M; Classen, Sj; Dedicha, Nr; Buongiorno, Mt; Maria, Adlcs; Munoz, E; Santacruz, P; Barbera, Ma; Sebastian, Ar; Pardo, Sa; Guia, Db; Calzado, N; Hernanz, Lc; Tartari DiazZorita, Jp; Catena, Jl; Ferrer, Pq; Carruesco, Gt; Robert, Mf; Viladrich, Cm; Roca, E; Ruiz Idiago, Jm; Riballo, Av; Campolongo, A; Fernandez de Bobadilla, R; Horta, A; Bojarsky, Jk; Martinezhorta, S; Pagonabarraga, J; Perez, Jp; Ribosa, R; Villa, C; Acera Gil, Ma; Corrales, Kb; Gomez Esteban, Jc; Gonzalez, A; Merino, Bt; Cubo, E; Polo, Cg; Mariscal, N; Sanchez, J; Romero, Sg; Arbelo, Jm; Malo de Molina, R; Martin, I; Perianez, Jm; Udaeta, B; Alonsofrech, F; Loarte, Mdv; Barrero, F; Morales, B; Frades, B; Villanueva, Ma; Zea Sevilla, Ma; Fenollar, Mdm; GarciaRamos Garcia, R; Villanueva, C; Bascunana, M; Ventura, Mf; Caldentey, Jg; Ribas, Gg; Garcia de Yebenes, J; LopezSendon Moreno, Jl; Barral, Vm; Cubillo, Pt; Feliz, C; Garcia Ruiz, Pj; Garcia, A; Caldentey, Jg; Lopez, Rg; Barcenas, Ah; Martinezdescals, A; Pueyo, Am; Martin, Vp; Martinez, Nr; Montojo, T; Sainz Artiga, Mj; Sanchez, V; Alarcon, Md; Almagro, Ca; Dieguez, E; Fortuna, L; Legaz, A; Manzanares, S; Munoz, Jm; Antequera Torres, Mm; Perea, Fn; Vivancos, L; Gonzalez, S; Guisasola, Lm; Prieto, Mp; Ribacoba, R; Salvador, C; Lozano, Ps; Caldentey, Jg; Ramirez, Il; Benito, Dm; Arques, Pn; Lopera, Mr; Pastor, Bv; Gaston, I; Garciaamigot, F; Martinezjaurrieta, Md; Ramosarroyo, Ma; Adarmes, A; Bernalescudero, M; Carrillo, F; Jesus, S; Mir, P; Vargasgonzalez, L; Hermoso, Fd; Garcia Moreno, Jm; Jaramillo, Ja; Lucena, Cm; Pacheco Cortegana, Em; Pena, Jc; Redondo, L; Sanchez, Vs; Fernandez, Cm; Romero Lemos, Md; Mata, Mp; Casado, Rv; Bosca, M; Burguera, Ja; Brugada, Fc; Millan Salvador, Jm; Vilaplana, Cp; Solis, P; Figuerola, Bj; Palanca, Pm; Diago, Eb; Lopez del Val, J; Martinez, Lm; Lopez, E; Wahlstrom, J; Hostereyugander, U; Fredlund, G; Constantinescu, R; Lewin, K; Nelebornlingefjard, L; Berglund, M; Berglund, P; Linnsand, P; Petersen, A; Reimer, J; Widner, H; Esmaeilzadeh, M; Tedroff, J; Winnberg, E; Benaminov, S; Bjornsson, E; Merrick, D; Paucar, M; Palhagen, S; Svenningsson, P; Wallden, T; Berglund, M; Loutfi, G; Olofsson, C; Stattin, El; Westman, L; Wikstrom, B; Ekwall, C; Goller, Ml; Johansson, A; Niemela, V; Nyholm, D; Sundblom, J; Wiklund, L; Burgunder, Jm; Koehli, J; Stebler, Y; Kaelin, A; Romero, I; Schupbach, M; Zaugg, Sw; Esposito, F; Good, Jm; Paus, K; Vingerhoets, F; Wider, C; Jung, Hh; Petersen, Ja; Ligonauer, M; Mihaylova, V; Downie, L; Jack, R; Matheson, K; Miedzybrodzka, Z; Rae, D; Simpson, Sa; Summers, F; Ure, A; Vaughan, V; Harrower, T; Vernon, N; Akhtar, S; Crooks, J; Curtis, A; de Souza Keylock, J; Piedad, J; Rickards, H; Wright, J; Haigbrown, D; Craven, J; Pallett, A; Simpson, S; Weekes, R; Coulthard, E; Gethin, L; Hayward, B; Sieradzan, K; Wright, A; Barker, Ra; O'Keefe, D; Gerrtiz nee Di Pietro, A; Fisher, K; Goodman, A; Hill, S; Mason, S; Swain, R; Guzman, Nv; Busse, M; Butcher, C; Callaghan, J; Dunnett, S; Clenaghan, C; Fullam, R; Hunt, S; Jones, L; Jones, U; Khalil, H; Minster, S; Owen, M; Price, K; Townhill, J; Rosser, A; Goudie, D; Buchanan, L; Mcfadyen, P; Tonner, A; Taylor, Am; Edwards, M; Ho, C; Mcgill, M; Porteous, M; Pearson, P; Harrower, T; Irvine, S; Brockie, P; Foster, J; Johns, N; Mckenzie, S; Rothery, J; Thomas, G; Yates, S; Neumann, C; Patterson, K; Thomson, D; Deith, C; Ireland, J; Ritchie, S; Brown, P; Burrows, L; Fletcher, A; Harding, A; Harrison, K; Laver, F; Silva, M; Thomson, A; Chu, C; Evans, C; Gallentree, D; Hamer, S; Kraus, A; Markova, I; Raman, A; Rowett, L; Andrew, A; Frost, J; Noad, R; Cosgrove, J; Gallantree, D; Hamer, S; Hobson, E; Jamieson, S; Kraus, A; Longthorpe, M; Markova, I; Musgrave, H; Peacy, C; Raman, A; Rowett, L; Toscano, J; Wild, S; Yardumian, P; Clayton, C; Dipple, H; Freirepatino, D; Hallam, C; Middleton, J; Alusi, S; Davies, R; Foy, K; Gerrans, E; Pate, L; Anjum, U; Coebergh, J; Eddy, C; Lahiri, N; Mcentagart, M; Patton, M; Peterson, M; Rose, S; Andrews, T; Dougherty, A; Golding, C; Kavalier, F; Laing, H; Lashwood, A; Robertson, D; Ruddy, D; Santhouse, A; Whaite, A; Andrews, T; Gosling nee Brown, S; Bruno, S; Chu, E; Doherty, K; Golding, C; Haider, S; Hensman, D; Lahiri, N; Lewis, M; Novak, M; Patel, A; Robertson, N; Rosser, E; Tabrizi, S; Taylor, R; Warner, T; Wild, E; Ackermann, O; Duport, S; Scott, A; Stoy, N; Vaughn, J; Arran, N; Bek, J; Callaghan, J; Craufurd, D; Fullam, R; Hare, M; Howard, L; Huson, S; Johnson, L; Jones, M; Krishnamoorthy, A; Murphy, H; Oughton, E; Partingtonjones, L; Rogers, D; Sollom, A; Snowden, J; Stopford, C; Thompson, J; Trendergerhard, I; Verstraelen formerly Ritchie, N; Westmoreland, L; Cass, G; Davidson, L; Davison, J; Fullerton, N; Holmes, K; Komati, S; Mcdonnell, S; Mohammed, Z; Morgan, K; Savage, L; Singh, B; Wood, J; Chu, E; Knight, C; O'Neill, M; Purkayastha, Dd; Nemeth, Ah; Siuda, G; Valentine, R; Dixon, K; Armstrong, R; Harrison, D; Hughes, M; Large, S; Donovan, Jo; Palmer, A; Parkinson, A; Soltysiak, B; Timings, L; Williams, J; Burn, J; Weekes, R; Craven, J; Bailey, W; Coleman, C; Haigbrown, D; Simpson, S; Hare, M; Majeed, T; Verstraelen Ritchie, N; Armstrong, R; Dixon, K; Barrett, W; Ho, A; Bandmann, O; Bradbury, A; Fairtlough, H; Fillingham, K; Foustanos, I; Gill, P; Kazoka, M; O'Donovan, K; Nevitt, L; Peppa, N; Quarrell, O; Taylor, C; Tidswell, K; Kipps, C; Mackinnon, L; Agarwal, V; Hayward, E; Gunner, K; Harris, K; Anderson, M; Heywood, M; Keys, L; Smalley, S; Elnimr, G; Duffell, A; Wood, S; Kennedy nee Smith, K; Gowers, L; Powell, K; Bethwaite, P; Edwards, R; Fuller, K; Phillips, M; Tan, L; Burgunder, Jm; Lau, Pn; Pica, E; Roos, Ra
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2 1-gen-2004 Mantuano, E; Veneziano, L; Spadaro, M; Giunti, P; Guida, S; Leggio, Mg; Verriello, L; Wood, N; Jodice, C; Frontali, M
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. 1-gen-2012 Lee JM; Gillis T; Mysore JS; Ramos EM; Myers RH; Hayden MR; Morrison PJ; Nance M; Ross CA; Margolis RL; Squitieri F; Griguoli A; Di Donato S; GomezTortosa E; Ayuso C; Suchowersky O; Trent RJ; McCusker E; Novelletto A; Frontali M; Jones R; Ashizawa T; Frank S; SaintHilaire MH; Hersch SM; Rosas HD; Lucente D; Harrison MB; Zanko A; Abramson RK; Marder K; Sequeiros J; MacDonald ME; Gusella JF
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by episodic ataxia type 2 patients. 1-gen-2001 Guida S.; Trettel F.; Pagnutti S.; Mantuano E.; Tottene A.; Veneziano L.; Fellin T.; Spadaro M.; Stauderman K.A.; Williams M.E.; Volsen S.; Ophoff R.A.; Frants R.R.; Jodice C.; Frontali M.; Pietrobon D.
Construction of a YAC contig covering human chromosome 6p22 1-gen-1996 Malaspina, Patrizia; Roetto, Antonella; Trettel, Flavia; Jodice, Carla; Blasi, Paola; Frontali, Marina; Carella, Massimo; Franco, Brunella; Camaschella, Clara; Camaschella, Clara; Novelletto, Andrea; Novelletto, Andrea
Corrigendum to "Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia" [Clin. Neurol. Neurosurg. 168 (May) (2018) 60-63] (S0303846718300933) (10.1016/j.clineuro.2018.02.042)) 1-gen-2018 Coarelli G.; Romano S.; Travaglini L.; Ferraldeschi M.; Nicita F.; Spadaro M.; Fornasiero A.; Frontali M.; Salvetti M.; Bertini E.; Ristori G.
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? 1-gen-2015 D'Apice M.R.; Novelli A.; di Masi A.; Biancolella M.; Antoccia A.; Gullotta F.; Licata N.; Minella D.; Testa B.; Nardone A.M.; Palmieri G.; Calabrese E.; Biancone L.; Tanzarella C.; Frontali M.; Sangiuolo F.; Novelli G.; Pallone F.
Diagnostic genetic testing for huntington's disease 1-gen-2015 Craufurd, David; Craufurd, David; Macleod, Rhona; Macleod, Rhona; Frontali, Marina; Quarrell, Oliver; Bijlsma Emilia, K; Davis, Mary; Hjermind Lena, Elisabeth; Hjermind Lena, Elisabeth; Lahiri, Nayana; Mandich, Paola; Mandich, Paola; Martinez Asunci, Ón; Tibben, Aad; Roos Raymund, A
DNA markers in diagnosis of adult dominant polycystic kidney disease 1-gen-1992 Veneziano L; D'Angelo AR; Burrai L; Perugia G; Gentile V; Potenza L; Iampieri MP; Novelletto A; Novelli G; Frontali M.
Does arterial hypertension influence the onset of Huntington's disease? 1-gen-2018 Valcarcelocete, L; Fullaondo, A; Alkortaaranburu, G; Garciabarcina, M; Roos, Rac; Hjermind, Le; Saft, C; Frontali, M; Reilmann, R; Rickards, H; Zubiaga, Am; Aguirre, A