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  • 1
    Electronic Resource
    Electronic Resource
    Sporadic motor neuron disease with severe sensory neuronopathy (1998)
    Springer
    Acta neuropathologica 95 (1998), S. 426-430 
    Details
    ISSN: 1432-0533
    Keywords: Key words Motor neuron disease ; Amyotrophic lateral sclerosis ; Sensory neuronopathy ; Bunina body ; Skein-like inclusion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a 62-year-old man with sporadic motor neuron disease (MND) of 52 months’ duration with progressive sensory disturbance and high cerebrospinal fluid protein content. Neuropathologically, both the upper and lower motor neuron systems were severely affected, and light and electron microscopy revealed Bunina bodies and skein-like inclusions, which are characteristic of amyotrophic lateral sclerosis, in the remaining anterior horn cells. Moreover, there was severe degeneration without inflammatory infiltrates in the spinal posterior columns, spinal ganglia, and peripheral sensory nerves. These findings suggest that this case may be an unusual variant of sporadic MND with severe somatic sensory system involvement.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050820
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Three new mutations in the hepatocyte nuclear factor-1α gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization (1999)
    Springer
    Diabetologia 42 (1999), S. 621-626 
    Details
    ISSN: 1432-0428
    Keywords: Keywords MODY ; HNF-1α ; insulin ; arginine ; mutation.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. Mutations in the hepatocyte nuclear factor-1α gene are a common cause of the type 3 form of maturity-onset diabetes of the young. We examined the clinical features and molecular basis of hepatocyte nuclear factor-1α (HNF-1α) diabetes. Methods. Thirty-seven Japanese subjects with early onset Type II (non-insulin-dependent) diabetes mellitus and 45 with Type I (insulin-dependent) diabetes mellitus were screened for mutations in this gene. Functional properties of mutant HNF-1α were also investigated. Results. Three new mutations [G415R, R272C and A site of the promoter ( + 102G-to-C)] were found. Insulin secretion was impaired in the three subjects. Insulin and glucagon secretory responses to arginine in the subject with the R272C mutation were also diminished. Molecular biological studies indicated that the G415R mutation generated a protein with about 50 % of the activity of wild-type HNF-1α. The R272C mutation had no transactivating or DNA binding activity and acted in a dominant negative manner. The + 102 G-to-C mutation in the A site of the promoter activity was associated with an increase in promoter activity and it had 42–75 % more activity than the wild-type sequence. Conclusion/interpretation. Mutations in the HNF-1α gene may affect the normal islet function by different molecular mechanisms. [Diabetologia (1999) 42: 621–626]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250051204
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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