Search Results - (Author, Cooperation:K. H. Fischbeck)

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  1. 1
    C. Rotimi ; A. Abayomi ; A. Abimiku ; V. M. Adabayeri ; C. Adebamowo ; E. Adebiyi ; A. D. Ademola ; A. Adeyemo ; D. Adu ; D. Affolabi ; G. Agongo ; S. Ajayi ; S. Akarolo-Anthony ; R. Akinyemi ; A. Akpalu ; M. Alberts ; O. Alonso Betancourt ; A. M. Alzohairy ; G. Ameni ; O. Amodu ; G. Anabwani ; K. Andersen ; F. Arogundade ; O. Arulogun ; D. Asogun ; R. Bakare ; N. Balde ; M. L. Baniecki ; C. Beiswanger ; A. Benkahla ; L. Bethke ; M. Boehnke ; V. Boima ; J. Brandful ; A. I. Brooks ; F. C. Brosius ; C. Brown ; B. Bucheton ; D. T. Burke ; B. G. Burnett ; S. Carrington-Lawrence ; N. Carstens ; J. Chisi ; A. Christoffels ; R. Cooper ; H. Cordell ; N. Crowther ; T. Croxton ; J. de Vries ; L. Derr ; P. Donkor ; S. Doumbia ; A. Duncanson ; I. Ekem ; A. El Sayed ; M. E. Engel ; J. C. Enyaru ; D. Everett ; F. M. Fadlelmola ; E. Fakunle ; K. H. Fischbeck ; A. Fischer ; O. Folarin ; J. Gamieldien ; R. F. Garry ; S. Gaseitsiwe ; R. Gbadegesin ; A. Ghansah ; M. Giovanni ; P. Goesbeck ; F. X. Gomez-Olive ; D. S. Grant ; R. Grewal ; M. Guyer ; N. A. Hanchard ; C. T. Happi ; S. Hazelhurst ; B. J. Hennig ; C. Hertz ; Fowler ; W. Hide ; F. Hilderbrandt ; C. Hugo-Hamman ; M. E. Ibrahim ; R. James ; Y. Jaufeerally-Fakim ; C. Jenkins ; U. Jentsch ; P. P. Jiang ; M. Joloba ; V. Jongeneel ; F. Joubert ; M. Kader ; K. Kahn ; P. Kaleebu ; S. H. Kapiga ; S. K. Kassim ; I. Kasvosve ; J. Kayondo ; B. Keavney ; A. Kekitiinwa ; S. H. Khan ; P. Kimmel ; M. C. King ; R. Kleta ; M. Koffi ; J. Kopp ; M. Kretzler ; J. Kumuthini ; S. Kyobe ; C. Kyobutungi ; D. T. Lackland ; K. A. Lacourciere ; G. Landoure ; R. Lawlor ; T. Lehner ; M. Lesosky ; N. Levitt ; K. Littler ; Z. Lombard ; J. F. Loring ; S. Lyantagaye ; A. Macleod ; E. B. Madden ; C. R. Mahomva ; J. Makani ; M. Mamven ; M. Marape ; G. Mardon ; P. Marshall ; D. P. Martin ; D. Masiga ; R. Mason ; M. Mate-Kole ; E. Matovu ; M. Mayige ; B. M. Mayosi ; J. C. Mbanya ; S. A. McCurdy ; M. I. McCarthy ; H. McIlleron ; S. O. Mc'Ligeyo ; C. Merle ; A. O. Mocumbi ; C. Mondo ; J. V. Moran ; A. Motala ; M. Moxey-Mims ; W. S. Mpoloka ; C. L. Msefula ; T. Mthiyane ; N. Mulder ; G. Mulugeta ; D. Mumba ; J. Musuku ; M. Nagdee ; O. Nash ; D. Ndiaye ; A. Q. Nguyen ; M. Nicol ; O. Nkomazana ; S. Norris ; B. Nsangi ; A. Nyarko ; M. Nyirenda ; E. Obe ; R. Obiakor ; A. Oduro ; S. F. Ofori-Acquah ; O. Ogah ; S. Ogendo ; K. Ohene-Frempong ; A. Ojo ; T. Olanrewaju ; J. Oli ; C. Osafo ; O. Ouwe Missi Oukem-Boyer ; B. Ovbiagele ; A. Owen ; M. O. Owolabi ; L. Owolabi ; E. Owusu-Dabo ; G. Pare ; R. Parekh ; H. G. Patterton ; M. B. Penno ; J. Peterson ; R. Pieper ; J. Plange-Rhule ; M. Pollak ; J. Puzak ; R. S. Ramesar ; M. Ramsay ; R. Rasooly ; S. Reddy ; P. C. Sabeti ; K. Sagoe ; T. Salako ; O. Samassekou ; M. S. Sandhu ; O. Sankoh ; F. S. Sarfo ; M. Sarr ; G. Shaboodien ; I. Sidibe ; G. Simo ; M. Simuunza ; L. Smeeth ; E. Sobngwi ; H. Soodyall ; H. Sorgho ; O. Sow Bah ; S. Srinivasan ; D. J. Stein ; E. S. Susser ; C. Swanepoel ; G. Tangwa ; A. Tareila ; O. Tastan Bishop ; B. Tayo ; N. Tiffin ; H. Tinto ; E. Tobin ; S. M. Tollman ; M. Traore ; M. J. Treadwell ; J. Troyer ; M. Tsimako-Johnstone ; V. Tukei ; I. Ulasi ; N. Ulenga ; B. van Rooyen ; A. P. Wachinou ; S. P. Waddy ; A. Wade ; M. Wayengera ; J. Whitworth ; L. Wideroff ; C. A. Winkler ; S. Winnicki ; A. Wonkam ; M. Yewondwos ; T. sen ; N. Yozwiak ; H. Zar
    American Association for the Advancement of Science (AAAS)
    Published 2014
    Staff View
    Publication Date:
    2014-06-21
    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:
    Africa ; Disease/*genetics ; England ; Genetics, Medical/trends ; Genome-Wide Association Study/*trends ; Genomics/*trends ; Health ; Humans ; National Institutes of Health (U.S.) ; United States
    Published by:
    http://www.aaas.org/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Fischbeck, K. H. ; Garbern, J. Y.

    [s.l.] : Nature Publishing Group
    Published 1992
    Staff View
    ISSN:
    1546-1718
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Medicine
    Notes:
    [Auszug] One by one, the human muscular dystrophy genes are being identified. After Duchenne and Becker's muscular dystrophies and myotonic muscular dystrophy, facioscapulo-humeral (FSH) dystrophy is the next most common hereditary degenerative disease of muscle, with a frequency of about 1 in 20,000. In ...
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1038/ng0992-3

    Articles: DFG German National Licenses
  3. 3
    Staff View
    ISSN:
    1546-1718
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Medicine
    Notes:
    [Auszug] Charcot–Marie–Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for peripheral myelin protein pmp–22/gas–3 in Trembler mice, a murine model for CMT1A, we have analysed whether this gene is ...
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1038/ng0692-166

    Articles: DFG German National Licenses
  4. 4
    Staff View
    ISSN:
    1432-1440
    Keywords:
    X-Linked recessive bulbospinal neuronopathy ; Spinal muscular atrophy ; Motoneuron disease ; Androgen receptor
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract X-linked recessive bulbospinal neuronopathy is a motoneuron disorder to be distinguished from amyotrophic lateral sclerosis. Effective treatment is not known. Patients with X-linked recessive bulbospinal neuronopathy may show gynecomastia and testicular atrophy, and a mutation in the androgen receptor gene has been found associated with the disease. Intermediate steps leading from the androgen receptor abnormality to the clinical syndrome have not yet been elucidated. Therefore, binding of androgen ([3H]dihydrotestosterone) to its specific receptor by genital skin fibroblasts cultured from a patient with X-linked recessive bulbospinal neuronopathy and confirmed androgen receptor mutation was studied. Markedly decreased binding capacity was found. We treated the patient for 6 months with nandrolone-decanoate. No effect on his neuromuscular status was observed during 2 years of follow-up.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00190748

    Articles: DFG German National Licenses
  5. 5
    Staff View
    ISSN:
    1364-6753
    Keywords:
    Key words Amyotrophic lateral sclerosis ; ALS4 locus ; Fine mapping of ALS4
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    ABSTRACT Amyotrophic lateral sclerosis (ALS) denotes a heterogeneous group of neurodegenerative disorders affecting upper and lower motor neurons. ALS4 is a juvenile-onset, autosomal dominant form of ALS that is characterized by slow progression, distal limb weakness and amyotrophy, and pyramidal signs associated with severe loss of motor neurons in the brain and spinal cord. The ALS4 locus was recently mapped by linkage analysis to a large genetic interval on chromosome 9q34. By undertaking extensive genetic linkage analysis, we have significantly refined the ALS4 locus to a critical interval of less than 3 cM, flanked by D9S149 and D9S1198. Previous physical mapping in this region has indicated that this critical interval spans approximately 500 kb. Seventeen putative transcripts have been localized within this interval including 7 characterized genes, 2 partially characterized genes, and 8 "anonymous" expressed sequence tags . These are therefore positional candidate genes for the ALS4 locus. We have also undertaken mutation analysis and genetic mapping to investigate and exclude candidate genes, including RING3L/ORFX and RALGDS , from a pathogenic role in ALS4.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/

    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary We present the results of an international collaborative study aimed at estimating the ratio of male to female mutation rates in Duchenne muscular dystrophy based on the method of C. Müller and T. Grimm. With a sample size of 295, this ratio is found to be very close to 1, thus giving evidence for equal mutation rates in males and females in Duchenne muscular dystrophy.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00217124

    Articles: DFG German National Licenses
  7. 7
    Letinsky, M. S. ; Fischbeck, K. H. ; McMahan, U. J.
    Springer
    Published 1976
    Staff View
    ISSN:
    1573-7381
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary Regenerating neuromuscular junctions in the cutaneous pectoris muscle of the frog were examined by light and electron microscopy up to three months after crushing the motor nerve. The aim was to determine the precision of reinnervation of the original synaptic sites. More than 95% of the original postsynaptic membrane is recovered by nerve terminals and little, if any, synaptic contact is made on other portions of the muscle fibre surface. Even after prolonged denervation when the Schwann cells have retracted from 70–80% of the postsynaptic membrane, regenerating terminals return to and cover a large fraction of it. Although synapses are confined to the original synaptic sites, the pattern of innervation of muscle fibres is altered in several ways: (a) regenerating axon terminals can fail to branch leaving small stretches of postsynaptic membrane uncovered; (b) two terminal branches can lie side by side over a stretch of postsynaptic membrane normally occupied by one terminal; and (c) after growing along a stretch of postsynaptic membrane on one muscle fibre, terminals can leave it to end either in extracellular space or on the postsynaptic membrane of another fibre. Altogether the results demonstrate a strong and specific affinity between the original synaptic sites and regenerating nerve terminals.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01181582

    Articles: DFG German National Licenses
  8. 8
    Fischbeck, K. H.
    Springer
    Published 1997
    Staff View
    ISSN:
    1573-2665
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Kennedy disease is a disorder with progressive motor neuron degeneration that is caused by trinucleotide repeat expansion in the androgen receptor gene. The disease mechanism likely involves toxicity of an expanded polyglutamine tract in the androgen receptor protein. This mechanism is probably shared by other neurodegenerative disorders with polyglutamine expansion, including Huntington disease. Attempts at reproducing the Kennedy disease phenotype by introducing the expanded androgen receptor into cultured neuronal cells and transgenic animals have thus far been unsuccessful, but recently developed model systems with other expanded polyglutamine constructs should allow the pathogenesis of these diseases to be elucidated.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1023/A:1005344403603

    Articles: DFG German National Licenses