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Material Type: Artigo
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Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing LossHirsch, Yoel ; Chung, Wendy K ; Novoselov, Sergey ; Weimer, Louis H ; Rossor, Alexander ; LeDuc, Charles A ; McPartland, Amanda J ; Cabrera, Ernesto ; Ekstein, Josef ; Scher, Sholem ; Nelson, Rick F ; Schiavo, Giampietro ; Henderson, Lindsay B ; Booth, Kevin TAMDPI AG 2023-05Texto completo disponível |
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Material Type: Artigo
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Duplication of clostridial binding domains for enhanced macromolecular delivery into neuronsLeese, C ; Bresnahan, R ; Doran, C ; Simsek, D ; Fellows, AD ; Restani, L ; Caleo, M ; Schiavo, G ; Mavlyutov, T ; Henke, T ; Binz, T ; Davletov, B2020-03Texto completo disponível |
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Material Type: Artigo
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FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translationBirsa, N ; Ule, AM ; Garone, MG ; Tsang, B ; Mattedi, F ; Chong, PA ; Humphrey, J ; Jarvis, S ; Pisiren, M ; Wilkins, OG ; Nosella, ML ; Devoy, A ; Bodo, C ; de la Fuente, RF ; Fisher, EMC ; Rosa, A ; Viero, G ; Forman-Kay, JD ; Schiavo, G ; Fratta, P2021-07Texto completo disponível |
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Material Type: Artigo
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Kidins220 deficiency causes ventriculomegaly via SNX27-retromer-dependent AQP4 degradationDel Puerto, A ; Pose-Utrilla, J ; Simón-García, A ; López-Menéndez, C ; Jiménez, AJ ; Porlan, E ; Pajuelo, LSM ; Cano-García, G ; Martí-Prado, B ; Sebastián-Serrano, Á ; Sánchez-Carralero, MP ; Cesca, F ; Schiavo, G ; Ferrer, I ; Fariñas, I ; Campanero, MR ; Iglesias, T2021-05Texto completo disponível |
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Material Type: Artigo
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UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophyShorrock, H ; van der Hoorn, D ; Boyd, P ; Hurtado, M ; Lamont, D ; Wirth, B ; Sleigh, JN ; Schiavo, G ; Wishart, T ; Groen, EJN ; Gillingwater, THOxford University Press (OUP) 2018-10Texto completo disponível |
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Material Type: Artigo
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FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retentionHumphrey, J ; Birsa, N ; Milioto, C ; McLaughlin, M ; Ule, AM ; Robaldo, D ; Eberle, AB ; Kräuchi, R ; Bentham, M ; Brown, A-L ; Jarvis, S ; Bodo, C ; Garone, MG ; Devoy, A ; Soraru, G ; Rosa, A ; Bozzoni, I ; Fisher, EMC ; Mühlemann, O ; Schiavo, G ; Ruepp, M-D ; Isaacs, AM ; Plagnol, V ; Fratta, P2020-06Texto completo disponível |
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Material Type: Artigo
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Inhibiting p38 MAPK alpha rescues axonal retrograde transport defects in a mouse model of ALSGibbs, KL ; Kalmar, B ; Rhymes, ER ; Fellows, AD ; Ahmed, M ; Whiting, P ; Davies, CH ; Greensmith, L ; Schiavo, GNature Publishing Group 2018-05Texto completo disponível |
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Material Type: Artigo
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Potential human transmission of amyloid β pathology: surveillance and risksLauwers, E ; Lalli, G ; Brandner, S ; Collinge, J ; Compernolle, V ; Duyckaerts, C ; Edgren, G ; Haïk, S ; Hardy, J ; Helmy, A ; Ivinson, AJ ; Jaunmuktane, Z ; Jucker, M ; Knight, R ; Lemmens, R ; Lin, I-C ; Love, S ; Mead, S ; Perry, VH ; Pickett, J ; Poppy, G ; Radford, SE ; Rousseau, F ; Routledge, C ; Schiavo, G ; Schymkowitz, J ; Selkoe, DJ ; Smith, C ; Thal, DR ; Theys, T ; Tiberghien, P ; van den Burg, P ; Vandekerckhove, P ; Walton, C ; Zaaijer, HL ; Zetterberg, H ; De Strooper, B2020-10Texto completo disponível |
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Material Type: Artigo
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In vivo imaging of axonal transport in murine motor and sensory neuronsGibbs, KL ; Kalmar, B ; Sleigh, JN ; Greensmith, L ; Schiavo, G2016-01Texto completo disponível |
10 |
Material Type: Artigo
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Deacetylation of Miro1 by HDAC6 blocks mitochondrial transport and mediates axon growth inhibitionKalinski, AL ; Kar, AN ; Craver, J ; Tosolini, AP ; Sleigh, JN ; Lee, SJ ; Hawthorne, A ; Brito-Vargas, P ; Miller-Randolph, S ; Passino, R ; Shi, L ; Wong, VSC ; Picci, C ; Smith, DS ; Willis, DE ; Havton, LA ; Schiavo, G ; Giger, RJ ; Langley, B ; Twiss, JL2019-05Texto completo disponível |