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Material Type: Artigo
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Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in miceLee, Ji-Su ; Lee, Jae Y ; Song, Dong W ; Bae, Hee S ; Doo, Hyun M ; Yu, Ho S ; Lee, Kyu J ; Kim, Hee K ; Hwang, Hyun ; Kwak, Geon ; Kim, Daesik ; Kim, Seokjoong ; Hong, Young B ; Lee, Jung M ; Choi, Byung-OkNucleic acids research, 2020-01, Vol.48 (1), p.130-140 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome MeasureMandarakas, Melissa R ; Eichinger, Katy J ; Bray, Paula ; Cornett, Kayla M D ; Shy, Michael E ; Reilly, Mary M ; Ramdharry, Gita M ; Scherer, Steven S ; Pareyson, Davide ; Estilow, Timothy ; McKay, Marnee J ; Herrmann, David N ; Burns, JoshuaNeurology, 2024-02, Vol.102 (3), p.e207963-e207963 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1XKagiava, A ; Richter, J ; Tryfonos, C ; Karaiskos, C ; Heslegrave, A J ; Sargiannidou, I ; Rossor, A M ; Zetterberg, H ; Reilly, M M ; Christodoulou, C ; Kleopa, K AHuman molecular genetics, 2019-11, Vol.28 (21), p.3528-3542 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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A Novel Decision‐Making Process for Tooth Retention or ExtractionAvila, Gustavo ; Galindo‐Moreno, Pablo ; Soehren, Stephen ; Misch, Carl E. ; Morelli, Thiago ; Wang, Hom‐LayJournal of periodontology (1970), 2009-03, Vol.80 (3), p.476-491 [Periódico revisado por pares]Chicago, IL: American Academy of PeriodontologyTexto completo disponível |
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Material Type: Artigo
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Community exercise is feasible for neuromuscular diseases and can improve aerobic capacityWallace, Amanda ; Pietrusz, Aleksandra ; Dewar, Elizabeth ; Dudziec, Magdalena ; Jones, Katherine ; Hennis, Philip ; Sterr, Annette ; Baio, Gianluca ; Machado, Pedro M ; Laurá, Matilde ; Skorupinska, Iwona ; Skorupinska, Mariola ; Butcher, Karen ; Trenell, Michael ; Reilly, Mary M ; Hanna, Michael G ; Ramdharry, Gita MNeurology, 2019-04, Vol.92 (15), p.e1773-e1785 [Periódico revisado por pares]United States: American Academy of NeurologyTexto completo disponível |
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Material Type: Artigo
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Intrathecal gene therapy in mouse models expressing CMT1X mutationsKagiava, A ; Karaiskos, C ; Richter, J ; Tryfonos, C ; Lapathitis, G ; Sargiannidou, I ; Christodoulou, C ; Kleopa, K AHuman molecular genetics, 2018-04, Vol.27 (8), p.1460-1473 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth diseaseYiu, Eppie M ; Bray, Paula ; Baets, Jonathan ; Baker, Steven K ; Barisic, Nina ; de Valle, Katy ; Estilow, Timothy ; Farrar, Michelle A ; Finkel, Richard S ; Haberlová, Jana ; Kennedy, Rachel A ; Moroni, Isabella ; Nicholson, Garth A ; Ramchandren, Sindhu ; Reilly, Mary M ; Rose, Kristy ; Shy, Michael E ; Siskind, Carly E ; Yum, Sabrina W ; Menezes, Manoj P ; Ryan, Monique M ; Burns, JoshuaJournal of neurology, neurosurgery and psychiatry, 2022-05, Vol.93 (5), p.530-538 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Humans: the ultimate animal modelsReilly, Mary M ; Rossor, Alexander MJournal of neurology, neurosurgery and psychiatry, 2020-11, Vol.91 (11), p.1132-1136 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnosesRajabally, Yusuf A ; Adams, David ; Latour, Philippe ; Attarian, ShahramJournal of neurology, neurosurgery and psychiatry, 2016-10, Vol.87 (10), p.1051-1060 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Preventing proteostasis diseases by selective inhibition of a phosphatase regulatory subunitDas, Indrajit ; Krzyzosiak, Agnieszka ; Schneider, Kim ; Wrabetz, Lawrence ; D'Antonio, Maurizio ; Barry, Nicholas ; Sigurdardottir, Anna ; Bertolotti, AnneScience (American Association for the Advancement of Science), 2015-04, Vol.348 (6231), p.239-242 [Periódico revisado por pares]United States: American Association for the Advancement of ScienceTexto completo disponível |