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DNA deletion associated with hereditary neuropathy with liability to pressure palsies
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Neuropathic pain in Charcot-Marie-tooth disease
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Aβ and tau prion-like activities decline with longevity in the Alzheimer's disease human brain
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Published in Science translational medicine (01.05.2019)
Published in Science translational medicine (01.05.2019)
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Structural heterogeneity and intersubject variability of Aβ in familial and sporadic Alzheimer’s disease
Condello, Carlo, Lemmin, Thomas, Stöhr, Jan, Nick, Mimi, Wu, Yibing, Maxwell, Alison M., Watts, Joel C., Caro, Christoffer D., Oehler, Abby, Keene, C. Dirk, Bird, Thomas D., van Duinen, Sjoerd G., Lannfelt, Lars, Ingelsson, Martin, Graff, Caroline, Giles, Kurt, DeGrado, William F., Prusiner, Stanley B.
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Aβ and tau prions feature in the neuropathogenesis of Down syndrome
Condello, Carlo, Maxwell, Alison M, Castillo, Erika, Aoyagi, Atsushi, Graff, Caroline, Ingelsson, Martin, Lannfelt, Lars, Bird, Thomas D, Keene, C Dirk, Seeley, William W, Perl, Daniel P, Head, Elizabeth, Prusiner, Stanley B
Published in Proceedings of the National Academy of Sciences - PNAS (15.11.2022)
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Mutations in SEPT9 cause hereditary neuralgic amyotrophy
Jonghe, Peter De, Goossens, Dirk, Kurlemann, Gert, Mononen, Tarja, Nelis, Eva, Ringelstein, E Bernd, Schirmacher, Anja, Prats, José M, Bird, Thomas D, Kuhlenbäumer, Gregor, Stögbauer, Florian, Meuleman, Jan, Young, Peter, Del-Favero, Jurgen, Broeckhoven, Christine Van, Irobi, Joy, Betz, Benjamin G, Hannibal, Mark C, Watts, Giles D J, Timmerman, Vincent, Serradell, Adolfo Pou, Vriendt, Els De, Airaksinen, Eila, Hor, Hyun, Halfter, Hartmut, Chance, Phillip F, Verpoorten, Nathalie
Published in Nature genetics (01.10.2005)
Published in Nature genetics (01.10.2005)
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Tau is a candidate gene for chromosome 17 frontotemporal dementia
Poorkaj, P, Bird, T D, Wijsman, E, Nemens, E, Garruto, R M, Anderson, L, Andreadis, A, Wiederholt, W C, Raskind, M, Schellenberg, G D
Published in Annals of neurology (01.06.1998)
Published in Annals of neurology (01.06.1998)
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Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia
Chen, Dong-Hui, Brkanac, Zoran, Christophe Verlinde, L.M.J., Tan, Xiao-Jian, Bylenok, Laura, Nochlin, David, Matsushita, Mark, Lipe, Hillary, Wolff, John, Fernandez, Magali, Cimino, P.J., Thomas Bird, D., Raskind, Wendy H.
Published in American journal of human genetics (01.04.2003)
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Missense and Silent Tau Gene Mutations Cause Frontotemporal Dementia with Parkinsonism-Chromosome 17 Type, by Affecting Multiple Alternative RNA Splicing Regulatory Elements
D'Souza, Ian, Poorkaj, Parvoneh, Hong, Ming, Nochlin, David, Virginia M.-Y. Lee, Bird, Thomas D., Schellenberg, Gerard D.
Published in Proceedings of the National Academy of Sciences - PNAS (11.05.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (11.05.1999)
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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Koob, Michael D, Ranum, Laura P.W, Moseley, Melinda L, Schut, Lawrence J, Benzow, Kellie A, Bird, Thomas D, Day, John W
Published in Nature genetics (01.04.1999)
Published in Nature genetics (01.04.1999)
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Mutation-Specific Functional Impairments in Distinct Tau Isoforms of Hereditary FTDP-17
Hong, Ming, Zhukareva, Victoria, Vogelsberg-Ragaglia, Vanessa, Wszolek, Zbigniew, Reed, Lee, Miller, Bruce I., Geschwind, Dan H., Bird, Thomas D., McKeel, Daniel, Goate, Alison, Morris, John C., Wilhelmsen, Kirk C., Schellenberg, Gerard D., Trojanowski, John Q., Virginia M.-Y. Lee
Published in Science (American Association for the Advancement of Science) (04.12.1998)
Published in Science (American Association for the Advancement of Science) (04.12.1998)
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Beta-synuclein gene alterations in dementia with Lewy bodies
Ohtake, H, Limprasert, P, Fan, Y, Onodera, O, Kakita, A, Takahashi, H, Bonner, L T, Tsuang, D W, Murray, I V J, Lee, V M-Y, Trojanowski, J Q, Ishikawa, A, Idezuka, J, Murata, M, Toda, T, Bird, T D, Leverenz, J B, Tsuji, S, La Spada, A R
Published in Neurology (14.09.2004)
Published in Neurology (14.09.2004)
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Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
Street, V A, Bennett, C L, Goldy, J D, Shirk, A J, Kleopa, K A, Tempel, B L, Lipe, H P, Scherer, S S, Bird, T D, Chance, P F
Published in Neurology (14.01.2003)
Published in Neurology (14.01.2003)
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Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation
GARBERN, James Y, YOOL, Donald A, SHY, Michael E, KAMHOLZ, John A, GRIFFITHS, Ian R, MOORE, Gregory J, WILDS, Ian B, FAULK, Michael W, KLUGMANN, Matthias, NAVE, Klaus-Amin, SISTERMANS, Erik A, VAN DER KNAAP, Marjo S, BIRD, Thomas D
Published in Brain (London, England : 1878) (01.03.2002)
Published in Brain (London, England : 1878) (01.03.2002)
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Parkinson's disease and LRRK2: Frequency of a common mutation in U.S. movement disorder clinics
Kay, Denise M., Zabetian, Cyrus P., Factor, Stewart A., Nutt, John G., Samii, Ali, Griffith, Alida, Bird, Tom D., Kramer, Patricia, Higgins, Donald S., Payami, Haydeh
Published in Movement disorders (01.04.2006)
Published in Movement disorders (01.04.2006)
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The Number of Trait Loci in Late-Onset Alzheimer Disease
Daw, E. Warwick, Payami, Haydeh, Nemens, Ellen J., Nochlin, David, Bird, Thomas D., Schellenberg, Gerard D., Wijsman, Ellen M.
Published in American journal of human genetics (01.01.2000)
Published in American journal of human genetics (01.01.2000)
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