Search Results - (Author, Cooperation:S. M. Pulst)

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  1. 1
    E. 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 2015
    Staff View
    Publication Date:
    2015-02-24
    Publisher:
    American Association for the Advancement of Science (AAAS)
    Print ISSN:
    0036-8075
    Electronic ISSN:
    1095-9203
    Topics:
    Biology
    Chemistry and Pharmacology
    Computer Science
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    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 Adult
    Published by:
    http://www.aaas.org/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Korenberg, J.R. ; Pulst, S.-M. ; Neve, R.L. ; West, R.

    Amsterdam : Elsevier
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(89)90095-5

    Articles: DFG German National Licenses
  3. 3
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary The D21S13 locus has shown linkage to a gene for familial Alzheimer disease (FAD) on chromosome 21 (St. George-Hyslop et al. 1987). The limited informativeness of probes for this locus have hindered precise mapping of the FAD locus and analysis of nonallelic heterogeneity in FAD (Schellenberg et al. 1988; St. George-Hyslop et al. 1987). We describe a new EcoRI polymorphism at the D21S13 locus that may be useful for the further study of FAD families.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00210815

    Articles: DFG German National Licenses
  4. 4
    Pulst, S. -M. ; Korenberg, J. R. ; Ren, M. ; Greenwald, J.
    Springer
    Published 1990
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary DNA markers in the pericentromeric region of human chromosome 21 have shown linkage to a gene for Familial Alzheimer disease (FAD; St. George Hyslop et al. 1987). The limited informativeness of probes for the loci D21S13 and D21S16 have hindered precise mapping of the FAD locus and analysis of non-allelic heterogeneity in FAD (Schellenberg et al. 1988; St. George-Hyslop et al. 1987). We recently described a new EcoRII polymorphism at the D21S13 locus that was very informative in a large FAD pedigree (Pulst et al. 1990a, b). We now report another polymorphism for the D21S13 locus that further increases the informativeness of this locus.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00193597

    Articles: DFG German National Licenses
  5. 5
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary We have investigated genetic linkage of von Recklinghausen neurofibromatosis (NF1) and achondroplasia (ACH) using chromosome-17 markers that are known to be linked to NF1. Physical proximity of the two loci was suggested by the report of a patient with mental retardation and the de novo occurrence of both NF1 and ACH. Since the chance of de novo occurrence of these two disorders in one individual is 1 in 600 million, this suggested a chromosomal deletion as a single unifying molecular event and also that the ACH and NF1 loci might be physically close. To test this, we performed linkage analysis on a three-generation family with ACH. We used seven DNA probes that are tightly linked to the NF1 locus, including DNA sequences that are known to flank the NF1 locus on the centromeric and telomeric side. We detected two recombinants between the ACH trait and markers flanking the NF1 locus. In one recombinant, the flanking markers themselves were nonrecombinant. Multi-point linkage analysis excluded the ACH locus from a region surrounding the NF1 locus that spans more than 15cM (lod score 〈 -2). Therefore, analysis of this ACH pedigree suggests that the ACH locus is not linked to the NF1 locus on chromosome 17.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00276318

    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. The familial form (FAD) has been linked to markers on chromosome 21 in some families, most tightly to the loci D21S16 and D21S13 located close to the centromere of the long arm. In other families the FAD mutation has been excluded from the more telomeric D21S1/S11 region, but not from the centromeric region of chromosome 21. We identified two new restriction fragment length polymorphisms (RFLPs) for the locus D21S13 and have used these RFLPs for the analysis of one of the largest known early-onset FAD pedigrees. We calculated pairwise and multipoint lod scores for the loci D21S13, D21S110, and D21S11. Linkage to this region of chromosome 21 was excluded with maximum negative lod scores of -6.4 at D21S13 and D21S110. Thus, it is unlikely that the FAD mutation in this family is located in the region that has shown linkage in other FAD pedigrees. This result provides evidence for genetic heterogeneity of early-onset FAD or a location of FAD centromeric to D21S13.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00204173

    Articles: DFG German National Licenses
  7. 7
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Abstract Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease recently mapped to chromosome 12q close to the locus D12S84 by genetic linkage analysis. To generate additional genetic markers in the SCA2 region, we constructed a physical map of the region using yeast artificial chomosome (YAC), P1 artificial chromosome (PAC) and cosmid clones. The physical map was found to agree well with the genetic map. Three novel microsatellite markers were isolated and physically mapped. A novel approach to isolate CAG repeats directly from YAC DNAs is described.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s004390050073

    Articles: DFG German National Licenses