The Current Situation and Needs of Rare Disease Registries in Europe
Taruscio, D., Gainotti, S., Mollo, E., Vittozzi, L., Bianchi, F., Ensini, M., Posada, M.
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Published in Community genetics (01.01.2013)
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Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes
Tsuchida, T., Ensini, M., Morton, S.B., Baldassare, M., Edlund, T., Jessell, T.M., Pfaff, S.L.
Published in Cell (16.12.1994)
Published in Cell (16.12.1994)
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The MYO-SEQ project: application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin
Johnson, K, Bertoli, M, Phillips, L, Blain, A, Ensini, M, Bushby, K, Lochmüller, H, Töpf, A, Lek, M, Xu, L, Mullen, T, Valkanas, E, MacArthur, D.G, Straub, V
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Nerve growth factor reduces apoptosis of axotomized retinal ganglion cells in the neonatal rat
Rabacchi, S.A., Ensini, M., Bonfanti, L., Gravina, A., Maffei, L.
Published in Neuroscience (01.12.1994)
Published in Neuroscience (01.12.1994)
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The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
Mora, Marina, Angelini, Corrado, Bignami, Fabrizia, Bodin, Anne-Mary, Crimi, Marco, Di Donato, Jeanne-Hélène, Felice, Alex, Jaeger, Cécile, Karcagi, Veronika, LeCam, Yann, Lynn, Stephen, Meznaric, Marija, Moggio, Maurizio, Monaco, Lucia, Politano, Luisa, de la Paz, Manuel Posada, Saker, Safaa, Schneiderat, Peter, Ensini, Monica, Garavaglia, Barbara, Gurwitz, David, Johnson, Diana, Muntoni, Francesco, Puymirat, Jack, Reza, Mojgan, Voit, Thomas, Baldo, Chiara, Bricarelli, Franca Dagna, Goldwurm, Stefano, Merla, Giuseppe, Pegoraro, Elena, Renieri, Alessandra, Zatloukal, Kurt, Filocamo, Mirella, Lochmüller, Hanns
Published in European journal of human genetics : EJHG (01.09.2015)
Published in European journal of human genetics : EJHG (01.09.2015)
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An international collaboration applying targeted whole exome sequencing to detect causative variants in 1001 patients affected by limb-girdle weakness of unknown origin
Johnson, K., Bertoli, M., Phillips, L., Blain, A., Ensini, M., Töpf, A., Lek, M., Xu, L., Mullen, T., Valkanas, E., MacArthur, D.G., Straub, V.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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OD09 - An international collaboration applying targeted whole exome sequencing to detect causative variants in 1001 patients affected by limb-girdle weakness of unknown origin
Johnson, K., Bertoli, M., Phillips, L., Blain, A., Ensini, M., Töpf, A., Lek, M., Xu, L., Mullen, T., Valkanas, E., MacArthur, D.G., Straub, V.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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P.324 - The MYO-SEQ project: Application of exome sequencing technologies of 1000 patients affected by limb-girdle weakness of unknown origin
Johnson, K., Töpf, A., Bertoli, M., Phillips, L., Blain, A., Ensini, M., Lek, M., Xu, L., Mullen, T., Valkanas, E., MacArthur, D., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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The MYO-SEQ project: Application of exome sequencing technologies of 1000 patients affected by limb-girdle weakness of unknown origin
Johnson, K., Töpf, A., Bertoli, M., Phillips, L., Blain, A., Ensini, M., Lek, M., Xu, L., Mullen, T., Valkanas, E., MacArthur, D., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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OD11 - The MYO-SEQ project: application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin
Johnson, K., Bertoli, M., Phillips, L., Blain, A., Ensini, M., Bushby, K., Lochmüller, H., Töpf, A., Lek, M., Xu, L., Mullen, T., Valkanas, E., MacArthur, D.G., Straub, V.
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
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Identification and characterisation of ATP2A1 variants through whole exome sequencing
Johnson, K., Arroyo, A. Martinez, Zulaica, M., Fernández-Torrón, R., de Munain, A. Lopez, Töpf, A., Bertoli, M., Phillips, L., Blain, A., Ensini, M., Lek, M., Mullen, T., Valkanas, E., Xu, L., MacArthur, D., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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P.443 - Identification and characterisation of ATP2A1 variants through whole exome sequencing
Johnson, K., Arroyo, A. Martinez, Zulaica, M., Fernández-Torrón, R., de Munain, A. Lopez, Töpf, A., Bertoli, M., Phillips, L., Blain, A., Ensini, M., Lek, M., Mullen, T., Valkanas, E., Xu, L., MacArthur, D., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
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Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb
Riddle, R D, Ensini, M, Nelson, C, Tsuchida, T, Jessell, T M, Tabin, C
Published in Cell (17.11.1995)
Published in Cell (17.11.1995)
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Dynamic Domains of Gene Expression in the Early Avian Forebrain
Bell, Esther, Ensini, Monica, Gulisano, Massimo, Lumsden, Andrew
Published in Developmental biology (01.08.2001)
Published in Developmental biology (01.08.2001)
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Dorsal versus ventral scales and the dorsoventral patterning of chick foot epidermis
Prin, Fabrice, Logan, Cairine, D'Souza, Deana, Ensini, Monica, Dhouailly, Danielle
Published in Developmental dynamics (01.03.2004)
Published in Developmental dynamics (01.03.2004)
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