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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Neural transplantation in Huntington disease: long-term grafts in two patients
Keene, C D, Sonnen, J A, Swanson, P D, Kopyov, O, Leverenz, J B, Bird, T D, Montine, T J
Published in Neurology (12.06.2007)
Published in Neurology (12.06.2007)
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A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology
Leverenz, J. B., Yu, C. E., Montine, T. J., Steinbart, E., Bekris, L. M., Zabetian, C., Kwong, L. K., Lee, V. M-Y., Schellenberg, G. D., Bird, T. D.
Published in Brain (London, England : 1878) (01.05.2007)
Published in Brain (London, England : 1878) (01.05.2007)
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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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Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease
Scheuner, D, Eckman, C, Jensen, M, Song, X, Citron, M, Suzuki, N, Bird, T D, Hardy, J, Hutton, M, Kukull, W, Larson, E, Levy-Lahad, E, Viitanen, M, Peskind, E, Poorkaj, P, Schellenberg, G, Tanzi, R, Wasco, W, Lannfelt, L, Selkoe, D, Younkin, S
Published in Nature medicine (01.08.1996)
Published in Nature medicine (01.08.1996)
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SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy
Hannibal, M C, Ruzzo, E K, Miller, L R, Betz, B, Buchan, J G, Knutzen, D M, Barnett, K, Landsverk, M L, Brice, A, LeGuern, E, Bedford, H M, Worrall, B B, Lovitt, S, Appel, S H, Andermann, E, Bird, T D, Chance, P F
Published in Neurology (19.05.2009)
Published in Neurology (19.05.2009)
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The clinical and genetic spectrum of spinocerebellar ataxia 14
Chen, D-H, Cimino, P J, Ranum, L P W, Zoghbi, H Y, Yabe, I, Schut, L, Margolis, R L, Lipe, H P, Feleke, A, Matsushita, M, Wolff, J, Morgan, C, Lau, D, Fernandez, M, Sasaki, H, Raskind, W H, Bird, T D
Published in Neurology (12.04.2005)
Published in Neurology (12.04.2005)
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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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Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions
Kertesz, A, Kawarai, T, Rogaeva, E, St George-Hyslop, P, Poorkaj, P, Bird, T D, Munoz, D G
Published in Neurology (22.02.2000)
Published in Neurology (22.02.2000)
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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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Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
Moseley, M L, Benzow, K A, Schut, L J, Bird, T D, Gomez, C M, Barkhaus, P E, Blindauer, K A, Labuda, M, Pandolfo, M, Koob, M D, Ranum, L P
Published in Neurology (01.12.1998)
Published in Neurology (01.12.1998)
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Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
Klesert, Todd R, Otten, Anne D, Bird, Thomas D, Tapscott, Stephen J
Published in Nature genetics (01.08.1997)
Published in Nature genetics (01.08.1997)
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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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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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DNA deletion associated with hereditary neuropathy with liability to pressure palsies
Chance, Phillip F., Alderson, Mary Kathryn, Leppig, Kathleen A., Lensch, M.William, Matsunami, Norisada, Smith, Brooke, Swanson, Phillip D., Odelberg, Shannon J., Disteche, Christine M., Bird, Thomas D.
Published in Cell (15.01.1993)
Published in Cell (15.01.1993)
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Late-onset hereditary axonal neuropathies
Bennett, C L, Lawson, V H, Brickell, K L, Isaacs, K, Seltzer, W, Lipe, H P, Weiss, M D, Carter, G T, Flanigan, K M, Chance, P F, Bird, T D
Published in Neurology (01.07.2008)
Published in Neurology (01.07.2008)
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Gender difference in apolipoprotein E-associated risk for familial Alzheimer disease : A possible clue to the higher incidence of Alzheimer disease in women
PAYAMI, H, ZAREPARSI, S, SCHELLENBERG, G. D, MONTEE, K. R, SEXTON, G. J, KAYE, J. A, BIRD, T. D, CHANG-EN YU, WIJSMAN, E. M, HESTON, L. L, LITT, M
Published in American journal of human genetics (01.04.1996)
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Published in American journal of human genetics (01.04.1996)
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A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
Bird, Thomas D., Nochlin, David, Poorkaj, Parvoneh, Cherrier, Monique, Kaye, Jeffrey, Payami, Haydeh, Peskind, Elaine, Lampe, Thomas H., Nemens, Ellen, Boyer, Philip J., Schellenberg, Gerard D.
Published in Brain (London, England : 1878) (01.04.1999)
Published in Brain (London, England : 1878) (01.04.1999)
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