Molecular basis of facioscapulohumeral muscular dystrophy von Tupler, R, Gabellini, D

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D.I.2 Facioscapulohumeral muscular dystrophy: Transition from a mendelian trait to a complex genetic disease? von Tupler, R

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New molecular findings in congenital myopathies due to selenoprotein N gene mutations von 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

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A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3 von Soragna, D., Vettori, A., Carraro, G., Marchioni, E., Vazza, G., Bellini, S., Tupler, R., Savoldi, F., Mostacciuolo, M.L.

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FP.30 TREAT-NMD FSHD Global Registry Network: A collaboration of neuromuscular and FSHD patient registries von Porter, B., Bennett, N., Allison, D., Campbell, C., Guglieri, M., Ambrosini, A., Tupler, R.

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634P Retrospective analysis of muscle biopsy findings in a cohort of patients with facioscapulohumeral dystrophy type 1 von Lucia, R., Pezzella, M., Leo, R. Di, Vitale, F., Russo, R., Grasso, C., Iapoce, M., Boemia, V., Tupler, R., Fiorillo, C., Zoppi, D.

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619P Normal and borderline-sized D4Z4 alleles in FSHD1-mimics: a multicentric Italian review of cases von Gadaleta, G., Vercelli, L., Urbano, G., Rolle, E., Torri, F., Pugliese, A., Maggi, L., Tupler, R., Filosto, M., Rodolico, C., Ruggiero, L., Ricci, G., Siciliano, G., Mongini, T.

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FSHD: EP.164 The assessment of cognitive and psychological status in an adult-onset FSHD sample: a pilot study von Torri, F., Spadoni, G., Bettio, C., Tupler, R., Ricci, G., Siciliano, G.

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FSHD von Torri, F., Spadoni, G., Bettio, C., Tupler, R., Ricci, G., Siciliano, G.

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T.P.35 FHL1 is beneficial in reducing muscle wasting in dystrophic FRG1 mice von Feeney, S.J, McGrath, M.J, D’Arcy, C.E, Sriratana, A, Tupler, R, Price, J.T, Mclean, C.A, Mitchell, C.A

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Inappropriate Gene Activation in FSHD: A Repressor Complex Binds a Chromosomal Repeat Deleted in Dystrophic Muscle von Gabellini, Davide, Green, Michael R., Tupler, Rossella

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Expressing the human genome von Green, Michael R, Tupler, Rossella, Perini, Giovanni

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Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 von Tupler, Rossella, Gabellini, Davide, D'Antona, Giuseppe, Moggio, Maurizio, Prelle, Alessandro, Zecca, Chiara, Adami, Raffaella, Angeletti, Barbara, Ciscato, Patrizia, Pellegrino, Maria Antonietta, Bottinelli, Roberto, Green, Michael R

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ASSESSMENT OF AMYLOID BETA-PROTEIN PRECURSOR GENE-MUTATIONS IN A LARGE SET OF FAMILIAL AND SPORADIC ALZHEIMER-DISEASE CASES von TANZI, RE, VAULA, G, ROMANO, DM, MORTILLA, M, HUANG, TL, TUPLER, RG, WASCO, W, HYMAN, BT, HAINES, JL, JENKINS, BJ, KALAITSIDAKI, M, WARREN, AC, MCINNIS, MC, ANTONARAKIS, SE, KARLINSKY, H, PERCY, ME, CONNOR, L, GROWDON, J, CRAPPERMCLACHLAN, DR, GUSELLA, JF, STGEORGEHYSLOP, PH

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G.P.13.04 Genetic and ultrastructural findings in Selenoprotein N1-related congenital myopathies von Cagliani, R, Fruguglietti, E, Berardinelli, A, D’Angelo, M.G, Prelle, A, Gorni, K, Orcesi, S, Lamperti, C, Signaroldi, E, Tupler, R, Moggio, M, Comi, G.P

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D.P.1.04 Size and number of D4Z4 alleles play a role in FSHD phenotype von Fabbri, G, Fiorillo, C, Borsato, C, Greco, F, Bonifazi, E, Vercelli, L, Palmucci, L, Tomelleri, G, Angelini, C, Santoro, L, Tupler, R

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M.P.1.13 Novel mitochondrial tRNA LEU(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype von Filosto, M, Tonin, P, Scarpelli, M, Savio, C, Mancuso, M, Tupler, R, Vattemi, G, Tomelleri, G

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Doppler evaluation of renal artery stenosis: interobserver agreement in the interpretation of waveform morphology von Kliewer, MA, Tupler, RH, Hertzberg, BS, Paine, SS, DeLong, DM, Svetkey, LP, Carroll, BA

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Review: Altered gene silencing and human diseases von Perini, G, Tupler, R

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Ring chromosome 9 with a 9p22.3-p24.3 duplication von SEGHEZZI, L, MARASCHIO, P, BOZZOLA, M, MASERATI, E, TUPLER, R, MARCHI, A, TIEPOLO, L

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