Search Results - (Author, Cooperation:G. A. Rouleau)
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1E. T. Cirulli ; B. N. Lasseigne ; S. Petrovski ; P. C. Sapp ; P. A. Dion ; C. S. Leblond ; J. Couthouis ; Y. F. Lu ; Q. Wang ; B. J. Krueger ; Z. Ren ; J. Keebler ; Y. Han ; S. E. Levy ; B. E. Boone ; J. R. Wimbish ; L. L. Waite ; A. L. Jones ; J. P. Carulli ; A. G. Day-Williams ; J. F. Staropoli ; W. W. Xin ; A. Chesi ; A. R. Raphael ; D. McKenna-Yasek ; J. Cady ; J. M. Vianney de Jong ; K. P. Kenna ; B. N. Smith ; S. Topp ; J. Miller ; A. Gkazi ; A. Al-Chalabi ; L. H. van den Berg ; J. Veldink ; V. Silani ; N. Ticozzi ; C. E. Shaw ; R. H. Baloh ; S. Appel ; E. Simpson ; C. Lagier-Tourenne ; S. M. Pulst ; S. Gibson ; J. Q. Trojanowski ; L. Elman ; L. McCluskey ; M. Grossman ; N. A. Shneider ; W. K. Chung ; J. M. Ravits ; J. D. Glass ; K. B. Sims ; V. M. Van Deerlin ; T. Maniatis ; S. D. Hayes ; A. Ordureau ; S. Swarup ; J. Landers ; F. Baas ; A. S. Allen ; R. S. Bedlack ; J. W. Harper ; A. D. Gitler ; G. A. Rouleau ; R. Brown ; M. B. Harms ; G. M. Cooper ; T. Harris ; R. M. Myers ; D. B. Goldstein
American Association for the Advancement of Science (AAAS)
Published 2015Staff ViewPublication Date: 2015-02-24Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Adaptor Proteins, Signal Transducing/genetics/metabolism ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/*genetics ; Autophagy/*genetics ; Exome/*genetics ; Female ; Genes ; Genetic Association Studies ; *Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Protein Binding ; Protein-Serine-Threonine Kinases/*genetics/metabolism ; Risk ; Sequence Analysis, DNA ; Transcription Factor TFIIIA/genetics/metabolism ; Young AdultPublished by: -
2Staff View
Publication Date: 2018-06-22Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyGeosciencesComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Genetics, Medicine, Diseases, Online OnlyPublished by: -
3Seizinger, B. R. ; Rouleau, G. A. ; Ozelius, L. J. ; Lane, A. H. ; Farmer, G. E. ; Lamiell, J. M. ; Haines, J. ; Yuen, J. W. M. ; Collins, D. ; Majoor-Krakauer, D. ; Bonner, T. ; Mathew, C. ; Rubenstein, A. ; Halperin, J. ; McConkie-Rosell, A. ; Green, J. S. ; Trofatter, J. A. ; Ponder, B. A. ; Eierman, L. ; Bowmer, M. I. ; Schimke, R. ; Oostra, B. ; Aronin, N. ; Smith, D. I. ; Drabkin, H.
[s.l.] : Nature Publishing Group
Published 1988Staff ViewISSN: 1476-4687Source: Nature Archives 1869 - 2009Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsNotes: [Auszug] The primary biochemical defect in VHL is not yet known. We have therefore used genetic-linkage analysis with polymorphic DNA markers as a first step in applying chromosome-specific cloning techniques to the isolation and characterization of the defect. As VHL is associated with inherited ...Type of Medium: Electronic ResourceURL: -
4Gaspar, Claudia ; Lopes-Cendes, Iscia ; DeStefano, Anita L. ; Maciel, PatrÃcia ; Silveira, Isabel ; Coutinho, Paula ; MacLeod, Patrick ; Sequeiros, Jorge ; Farrer, Lindsay A. ; Rouleau, G. A.
Springer
Published 1996Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar degeneration originally described in families of Portuguese-Azorean ancestry. The hypothesis that its present world distribution could result from the spread of an original founder mutation has been raised. To test this possibility we have conducted a linkage disequilibrium study of markers segregating with the MJD1 locus in a total of 64 unrelated families of different geographical origins. Significant association was detected between the MJD1 locus and marker alleles at loci D14S280, D14S1050 and D14S81. All affected individuals, except one Chinese family, had allele 3 (237 bp) at D14S280. This finding is consistent with a founder effect in our MJD population. However, distinct haplotypes were observed in patients originating from the two Azorean islands showing the highest disease prevalence; therefore, the possible existence of more than one founder mutation can not be excluded with the markers currently available.Type of Medium: Electronic ResourceURL: