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Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma 1-gen-2010 Olivieri, I; Teutonico, Federica; Orcesi, S; Papalia, Grazia; Uggetti, C; Bastianello, Stefano; Balottin, Umberto; Veggiotti, Pierangelo
Type I hyperprolinemia: genotype/phenotype correlations 1-gen-2010 Guilmatre, A; Legallic, S; Steel, G; Willis, A; Di Rosa, G; Goldenberg, A; Drouin-Garraud, V; Guet, A; Mignot, C; Des Portes, V; Valayannopoulos, V; Van Maldergem, L; Hoffman, Jd; Izzi, C; Espil-Taris, C; Orcesi, S; Bonafé, L; Le Galloudec, E; Maurey, H; Ioos, C; Afenjar, A; Blanchet, P; Echenne, B; Roubertie, A; Frebourg, T; Valle, D; Campion, D
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency 1-gen-2010 Brun, L; Ngu, Lh; Keng, Wt; Ch'Ng, Gs; Choy, Ys; Hwu, Wl; Lee, Wt; Willemsen, Ma; Verbeek, Mm; Wassenberg, T; Régal, L; Orcesi, S; Tonduti, D; Accorsi, P; Testard, H; Abdenur, Je; Tay, S; Allen, Gf; Heales, S; Kern, I; Kato, M; Burlina, A; Manegold, C; Hoffmann, Gf; Blau, N.
Response to correspondence on "spinal cord calcification in an early-onset progressive leukoencephalopathy" 1-gen-2011 Orcesi, S; La Piana, R; Comi, G.
COL4A1 mutations associated with a characteristic pattern of intracranial calcification 1-gen-2011 Livingston, J; Doherty, D; Orcesi, S; Tonduti, D; Piechiecchio, A; La Piana, R; Tournier-Lasserve, E; Majumdar, A; Tomkins, S; Rice, G; Kneen, R; van der Knaap, M; Crow, Y.
Spinal cord calcification in an early-onset progressive leukoencephalopathy. 1-gen-2011 Orcesi, S.; Piana, R. L.; Uggetti, C.; Tonduti, D.; Pichiecchio, A.; Pasin, M.; Viselner, G.; Comi, G. P.; R. D., Bo; Ronchi, D.; Bastianello, Stefano; Balottin, Umberto
New molecular findings in congenital myopathies due to selenoprotein N gene mutations 1-gen-2011 Cagliani, R.; Fruguglietti, M. E.; Berardinelli, A.; D'Angelo, M. G.; Prelle, A.; Riva, S.; Napoli, L.; Gorni, K.; Orcesi, S.; Lamperti, C.; Pichiecchio, A.; Signaroldi, E.; Tupler, R.; Magri, F.; Govoni, A.; Corti, S.; Bresolin, N.; Moggio, M.; Comi, G. P.
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers. 1-gen-2012 Tonduti, D.; Pichiecchio, A.; Piana, R. L.; Livingston, J. H.; Doherty, D. A.; Majumdar, A.; Tomkins, S.; Mine, M.; Ceroni, Mauro; Ricca, I.; Balottin, Umberto; Orcesi, S.
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers. 1-gen-2012 Tonduti, D; Pichiecchio, A; La Piana, R; Livingston, Jh; Doherty, Da; Majumdar, A; Tomkins, S; Mine, M; Ceroni, Mauro; Ricca, I; Balottin, Umberto; Orcesi, S.
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome 1-gen-2012 Izzotti, A; Longobardi, M; Cartiglia, C; Anzuini, F; Arrigo, P; Fazzi, E; Orcesi, S; Piana, Rl; Pulliero, A
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature 1-gen-2012 Rice, Gi; Kasher, Pr; Forte, Gm; Mannion, Nm; Greenwood, Sm; Szynkiewicz, M; Dickerson, Je; Bhaskar, Ss; Zampini, M; Briggs, Ta; Jenkinson, Em; Bacino, Ca; Battini, R; Bertini, E; Brogan, Pa; Brueton, La; Carpanelli, M; De Laet, C; de Lonlay, P; Del Toro, M; Desguerre, I; Fazzi, E; Garcia-Cazorla, A; Heiberg, A; Kawaguchi, M; Kumar, R; Lin, Jp; Lourenco, Cm; Male, Am; Marques, W Jr; Mignot, C; Olivieri, I; Orcesi, S; Prabhakar, P; Rasmussen, M; Robinson, Ra; Rozenberg, F; Schmidt, Jl; Steindl, K; Tan, Ty; van der Merwe, Wg; Vanderver, A; Vassallo, G; Wakeling, El; Wassmer, E; Whittaker, E; Livingston, Jh; Lebon, P; Suzuki, T; Mclaughlin, Pj; Keegan, Lp; O'Connell, Ma; Lovell, Sc; Crow, Yj
Family History of Autoimmune Disease in Patients with Aicardi-Goutières Syndrome 1-gen-2012 Schmidt, Jl; Olivieri, I; Vento, Jm; Fazzi, E; Gordish-Dressman, H; Orcesi, S; Vanderver, A
Calcifying leukoencephalopathies: new overlapping phenotypes 1-gen-2012 Orcesi, S; Tonduti, D; La Piana, R.
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers. 1-gen-2013 Tonduti, D; Pichiecchio, A; Wolf, Ni; Ariaudo, G; van der Knaap, Ms; Bastianello, Stefano; Balottin, Umberto; Orcesi, S.
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome 1-gen-2013 Rice, Gi; Reijns, Ma; Coffin, Sr; Forte, Gm; Anderson, Bh; Szynkiewicz, M; Gornall, H; Gent, D; Leitch, A; Botella, Mp; Fazzi, E; Gener, B; Lagae, L; Olivieri, I; Orcesi, S; Swoboda, Kj; Perrino, Fw; Jackson, Ap; Crow, Yj
The floppy newborn 1-gen-2013 Orcesi, S
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 1-gen-2014 Erika Della Mina, ; Ciccone, Roberto; Francesca, Brustia; Bayindir, Baran; Ivan, Limongelli; Vetro, Annalisa; Maria, Iascone; Laura, Pezzoli; Bellazzi, Riccardo; Gianfranco, Perotti; Valentina De Giorgis, ; Simona, Lunghi; Giangennaro, Coppola; Orcesi, Simona; Pietro, Merli; Salvatore, Savasta; Veggiotti, Pierangelo; Zuffardi, Orsetta
Therapies in Aicardi-Goutières syndrome 1-gen-2014 Crow, Yj; Vanderver, A; Orcesi, S; Kuijpers, Tw; Rice, Gi.
Risk and protective factors in maternal–fetal attachment development 1-gen-2014 Camilla, Pisoni; Francesca, Garofoli; Chryssoula, Tzialla; Orcesi, Simona; Spinillo, Arsenio; Politi, Pierluigi; Balottin, Umberto; Paolo, Manzoni; Mauro, Stronati
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations 1-gen-2014 Vanderver, A; Tonduti, D; Kahn, I; Schmidt, J; Medne, L; Vento, J; Chapman, Ka; Lanpher, B; Pearl, P; Gropman, A; Lourenco, C; Bamforth, Js; Sharpe, C; Pineda, M; Schallner, J; Bodamer, O; Orcesi, S; Oberstein, Sa; Sistermans, Ea; Yntema, Hg; Bonnemann, C; Waldman, At; van der Knaap, Ms.
Mostrati risultati da 21 a 40 di 130
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