检索结果 - J. M. MacKenzie
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Frontotemporal dementia with Pick‐type histology associated with Q336R mutation in the tau gene 由 Stuart Pickering‐Brown, Matthew Baker, Takashi Nonaka, Keiichi Ikeda, Suvasini Sharma, J. M. MacKenzie, Sharon Simpson, Joan Moore, Julie S. Snowden, R. de Silva, Tamás Révész, Masato Hasegawa, M. Hutton, David Mann
出版 2004Artigo -
2
Mutations in the pre-replication complex cause Meier-Gorlin syndrome 由 Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Stephen Brown, Jeroen Schoots, Margaret E Harley, Salim Aftimos, Jumana Y. Al‐Aama, Michael B. Bober, Paul A. Brown, Hans van Bokhoven, John Dean, Alaa Edrees, Murray Feingold, Alan Fryer, Lies H. Hoefsloot, Nikolaus Kau, Nine Knoers, J. M. MacKenzie, John M. Opitz, Pierre Sarda, Alison Ross, I. Karen Temple, Annick Toutain, Carol A. Wise, Michael Wright, Andrew P. Jackson
出版 2011Artigo -
3
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids 由 Rosa Rademakers, Matt Baker, Alexandra M. Nicholson, Nicola J. Rutherford, NiCole A. Finch, Alexandra I. Soto‐Ortolaza, Jennifer Lash, Christian Wider, Aleksandra Wojtas, Mariely DeJesus‐Hernandez, Jennifer Adamson, Naomi Kouri, Christina Sundal, Elizabeth A. Shuster, Jan Aasly, J. M. MacKenzie, Sigrun Roeber, Hans A. Kretzschmar, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Nigel J. Cairns, Bernardino Ghetti, Salvatore Spina, James Garbern, Alexandros Tselis, Ryan J. Uitti, Pritam Das, Jay A. van Gerpen, James F. Meschia, Shawn Levy, Daniel F. Broderick, Neill R. Graff‐Radford, Owen A. Ross, Bradley B. Miller, Russell H. Swerdlow, Dennis W. Dickson, Zbigniew K. Wszołek
出版 2011Artigo
相关主题
Biology
Gene
Genetics
Disease
Medicine
Mutation
Pathology
Alzheimer's disease
Central nervous system disease
Control of chromosome duplication
DNA replication
DNA replication factor CDT1
Degenerative disease
Dementia
Eukaryotic DNA replication
Exome sequencing
Frontotemporal dementia
Gene isoform
Genetic heterogeneity
Leukoencephalopathy
Locus (genetics)
Microcephaly
Missense mutation
Neurodegeneration
Neuroscience
Origin of replication
Origin recognition complex
Phenotype
Pick's disease
Pre-replication complex