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  • 1
    Electronic Resource
    Electronic Resource
    Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia (2005)
    [s.l.] : Nature Publishing Group
    Nature genetics 37 (2005), S. 806-808 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We have previously reported a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). Here we identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1609
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  • 2
    Electronic Resource
    Electronic Resource
    SURVIVAL AFTER SEVERE CEREBRAL ANOXIA WITH DESTRUCTION OF THE CEREBRAL CORTEX: THE APALLIC SYNDROME (1978)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 315 (1978), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1978.tb50339.x
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  • 3
    Electronic Resource
    Electronic Resource
    Identification of brain tumours in rats using laser-induced fluorescence and haematoporphyrin derivative (1989)
    Springer
    Lasers in medical science 4 (1989), S. 241-249 
    Details
    ISSN: 1435-604X
    Keywords: Brain tumour ; Rat ; Detection ; Fluorescence ; Laser ; Haematoporphyrin derivative
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Physics , Technology
    Notes: Abstract Laser-induced fluorescence has been used for the identification of brain tumours in rats, which have been previously given tumour-seeking haematoporphyrin derivative. A pulsed nitrogen laser (λ=337 nm) was used in conjunction with an optical multichannel analyzer. For both inoculated RG-2 and TCVC rat-brain-tumour models, the blue autofluorescence was strongly reduced in the tumour compared with normal brain tissue, and at the same time the characteristic red-drug signal increased. The contrast between tumour and normal tissue was strongly enhanced by forming the ratio between the two signals. Implications for possible improvement of tumour delineation in brain tumour surgery are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02032454
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  • 4
    Electronic Resource
    Electronic Resource
    CNS Malformations in Turner's syndrome (1968)
    Springer
    Acta neuropathologica 10 (1968), S. 159-161 
    Details
    ISSN: 1432-0533
    Keywords: Cerebral malformation ; Turner's syndrome ; Cortical dysplasia ; Chromosomal anomalies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Ein 16 Jahre altes Mädchen mit Turner-Syndrom starb infolge wiederholter Blutungen aus einem Medulloblastom. Sie war geistig mäßig rückständig und hatte Anfälle von petit mal-Typ. Das Gehirn zeigte eine angeborene Mißbildung, bestehend aus leichter corticaler Dysplasie und Heterotopien der grauen Substanz. Dieser Befund is unseres Wissens bisher beim Turner-Syndrom nicht bekannt, möglicherweise deswegen, weil derart geringe Veränderungen leicht übersehen werden können. Es erhebt sich die Frange, ob die Hirnmißbildung in diesem Fall einem zufälligen Zusammentreffen entspricht, oder dem Mißbildungsmuster des Turner-Syndroms zugehört.
    Notes: Summary A 16 year old girl with Turner's syndrome died owing to repeated bleedings from a medulloblastoma. She was slightly mentally retarded and had attacks of petit mal type. The brain showed a congenital malformation classified as slight cortical dysplasia and gray matter heterotopias. This, as far as we know, has hitherto not been diagnosed in Turner's syndrome, possibly because such minor changes are easily overlooked. The question ist raised whether the cerebral malformation was coincidental in this case or part of the malformation pattern in Turner's syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00691310
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  • 5
    Electronic Resource
    Electronic Resource
    Aspects on the variability of progressive multifocal leukoencephalopathy (1973)
    Springer
    Acta neuropathologica 24 (1973), S. 232-243 
    Details
    ISSN: 1432-0533
    Keywords: Progressive Multifocal Leukoencephalopathy ; CNS Demyelination, Progressive ; Leukemia ; Papovavirus in CNS
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In 7 cases of progressive multifocal leukoencephalopathy (PML), five with papova-like viral inclusions, the clinical and neuropathological features varied both within the group and in relation to the accepted, uniform pattern of the disease. Two were „spontaneous” and unrelated to any disease. One ran a protracted, remitting course, and in another the disease appeared stationary. From different points of view the differential diagnosis of multiple sclerosis was considered in these two cases. Two or three were subclinical, a variety which may be more common than hitherto recognized. Pronounced asymmetry in the distribution of lesions appears to be diagnostic interest in this disease, which would be expected to involve the brain in a generalized manner. The occurrence of atypical astrocytes, regarded as a striking feature of old lesions, was unimpressive except in two cases. These two cases on the other hand showed a glial reaction, in some respects simulating a glioma. This was deemed of particular interest in connection with an infection with the papova-group of viruses which is used experimentally to induce tumour. Recent results of virological research in this field can be expected to provide new and better means to study the virus, its occurrence in man and its possible role in PML.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687593
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  • 6
    Electronic Resource
    Electronic Resource
    Analyses des livres (1977)
    Springer
    Acta neurochirurgica 37 (1977), S. 313-314 
    Details
    ISSN: 0942-0940
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01402134
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  • 7
    Electronic Resource
    Electronic Resource
    Histochemical evidence for lysosomal uptake of lead in tissue cultured fibroblasts (1972)
    Springer
    Histochemistry and cell biology 29 (1972), S. 140-146 
    Details
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Lysosomes of embryonic rat fibroblasts cultivated in vitro normally contain heavy metals, as shown with a modified sulfide-silver method (SSM). Cultures which received lead added to the cultivation medium showed an enhanced SSM-positivity. However, since the SSM demonstrates several different heavy metals the sulfides of which are weakly soluble in water, it was not possible to distinguish between naturally occurring heavy metals—largely iron—and added lead (supposed to have been taken up by the cells). By treating the cells with a 0.2 M TCA solution after an initial exposure to HS− it was possible to dissolve FeS without affecting the PbS to any noticeable extent. When subsequently the development process of the SSM was applied to the cells, no metals could be demonstrated in the control cells whereas those exposed to lead showed presence of granules, most of which were identical with lysosomes as visualized with a Gomori type reaction. A lysosomal uptake of lead could thus be demonstrated with the modified SSM when combined with a simple dissolving process.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00277282
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  • 8
    Electronic Resource
    Electronic Resource
    Letter to the editors (1982)
    Springer
    Human genetics 〈Berlin〉 60 (1982), S. 298-298 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00303029
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  • 9
    Electronic Resource
    Electronic Resource
    A 50-year perspective of a family with chromosome-14-linked Alzheimer’s disease (1998)
    Springer
    Human genetics 〈Berlin〉 102 (1998), S. 253-257 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A Swedish family with two generations suffering from presenile dementia with an unusually severe Alzheimer encephalopathy was first reported in 1946. The hypothesis that the disease was inherited through a dominant gene is strongly supported by the follow-up 50years later of three additional generations and molecular genetic findings of a novel presenilin-1 gene mutation in the family. The pedigree contains six cases with well-documented dementia in four consecutive generations. The Alzheimer encephalopathy was unusually severe in the three cases studied post-mortem, with a pronounced involvement of the central grey structures, such as the claustrum, the nuclei around the third ventricle, the central thalamic nuclei and the brain stem. There were no vascular lesions and little amyloid angiopathy. All six affected cases showed the typical temporoparietal symptom pattern and other core symptoms of Alzheimer’s disease, such as logoclonia, myoclonic twitchings and major motor seizures. Other predominant features were psychomotor slowness, increased muscular tension, a stiff stooped gait and a rapid loss of weight. The symptom pattern is convincingly explained by the consistent and severe involvement of cortical and central grey structures and is probably linked to the presenilin-1 gene mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050688
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  • 10
    Electronic Resource
    Electronic Resource
    The effect of aging on lysosomal permeability in nerve cells of the central nervous system. An enzyme histochemical study in rat (1972)
    Springer
    Histochemistry and cell biology 30 (1972), S. 315-324 
    Details
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Aging neurons accumulate lipofuscin pigment granules which appear to be secondary lysosomes of the residual body variety. The biological significance of the residual bodies is debated. They were here studied with the aim of testing a hypothesis that the membranes surrounding these granules might be more vulnerable than the membranes around “younger” types of lysosomes. For this purpose large motor neurons of young and old rats were compared with respect to lysosomal membrane latency, using a modified Bitensky lysosomal lability test. Utilizing successively increasing incubation times, the lysosomes of old neurons, in particular the residual bodies in polar aggregates of old neurons—presumed to represent lipofuscin pigment granules—were found to have a clearly reduced latency in comparison with lysosomes of young neurons. These findings support the notion that the residual bodies are more fragile than “younger” lysosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00279780
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