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A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.
Zarranz JJ, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, Rodríguez O, Rodríguez-Martínez AB, de Pancorbo MM, Pastor P, Pérez-Tur J. Zarranz JJ, et al. Neurology. 2005 May 10;64(9):1578-85. doi: 10.1212/01.WNL.0000160116.65034.12. Neurology. 2005. PMID: 15883319
Pearls & Oy-sters: Challenges and Controversies in Wilson Disease.
Ruiz-Lopez M, Moreno Estébanez A, Tijero B, Fernandez T, Rebollo-Perez A, Gabilondo I, Lopez-Osle N, Ceberio-Hualde L, Zarranz JJ, Gomez-Esteban JC. Ruiz-Lopez M, et al. Among authors: zarranz jj. Neurology. 2022 Aug 9;99(6):251-255. doi: 10.1212/WNL.0000000000200836. Epub 2022 Jun 13. Neurology. 2022. PMID: 35940888 Free PMC article.
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[No authors listed] [No authors listed] PMID: 35697506
151 results