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  1. Lee, YouJin [Author]; Jonson, Per Harald [Author]; Sarparanta, Jaakko [Author]; Palmio, Johanna [Author]; Sarkar, Mohona [Author]; Vihola, Anna [Author]; Evilä, Anni [Author]; Suominen, Tiina [Author]; Penttilä, Sini [Author]; Savarese, Marco [Author]; Johari, Mridul [Author]; Minot, Marie-Christine [Author]; Hilton-Jones, David [Author]; Maddison, Paul [Author]; Chinnery, Patrick F. [Author]; Reimann, Jens [Author]; Kornblum, Cornelia [Author]; Kraya, Torsten [Author]; Zierz, Stephan [Author]; Sue, Carolyn [Author]; Goebel, Hans Hilmar [Author]; Azfer, Asim [Author]; Ralston, Stuart H. [Author]; Hackman, Peter [Author]; [...]

    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

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    2018

    Published in: The journal of clinical investigation ; 128(2018), 3 vom: 1., Seite 1164-1177

  2. Lee, YouJin; Jonson, Per Harald; Sarparanta, Jaakko; Palmio, Johanna; Sarkar, Mohona; Vihola, Anna; Evilä, Anni; Suominen, Tiina; Penttilä, Sini; Savarese, Marco; Johari, Mridul; Minot, Marie-Christine; Hilton-Jones, David; Maddison, Paul; Chinnery, Patrick; Reimann, Jens; Kornblum, Cornelia; Kraya, Torsten; Zierz, Stephan; Sue, Carolyn; Goebel, Hans; Azfer, Asim; Ralston, Stuart H.; Hackman, Peter; [...]

    TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

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    American Society for Clinical Investigation, 2018

    Published in: Journal of Clinical Investigation, 128 (2018) 3, Seite 1164-1177

  3. Brenner, David; Rosenbohm, Angela; Yilmaz, Rüstem; Müller, Kathrin; Grehl, Torsten; Petri, Susanne; Meyer, Thomas; Grosskreutz, Julian; Weydt, Patrick; Ruf, Wolfgang; Neuwirth, Christoph; Weber, Markus; Pinto, Susana; Claeys, Kristl G; Schrank, Berthold; Jordan, Berit; Knehr, Antje; Günther, Kornelia; Hübers, Annemarie; Zeller, Daniel; Kubisch, Christian; Jablonka, Sibylle; Sendtner, Michael; Klopstock, Thomas; [...]

    Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations

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    Oxford University Press (OUP), 2019

    Published in: Brain, 142 (2019) 12, Seite e67-e67

  4. Brenner, David; Yilmaz, Rüstem; Müller, Kathrin; Grehl, Torsten; Petri, Susanne; Meyer, Thomas; Grosskreutz, Julian; Weydt, Patrick; Ruf, Wolfgang; Neuwirth, Christoph; Weber, Markus; Pinto, Susana; Claeys, Kristl G; Schrank, Berthold; Jordan, Berit; Knehr, Antje; Günther, Kornelia; Hübers, Annemarie; Zeller, Daniel; Kubisch, Christian; Jablonka, Sibylle; Sendtner, Michael; Klopstock, Thomas; de Carvalho, Mamede; [...]

    Hot-spot KIF5A mutations cause familial ALS

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    Oxford University Press (OUP), 2018

    Published in: Brain, 141 (2018) 3, Seite 688-697