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  • 1
    Electronic Resource
    Electronic Resource
    Twenty years-iowa muscle clinic: Reminiscences and prospects (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 17-22 
    Details
    ISSN: 1432-1076
    Keywords: Duchenne muscular dystrophy (DMD) ; Management of DMD ; Genetics of DMD ; Carrier detection ; Newborn screening ; Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The activities of the last twenty years of the Iowa clinic for neuromuscular diseases are briefly reviewed. Main emphasis in this paper is on management and guidance of the patient with Duchenne muscular dystrophy (DMD) by the families, the school and the public at large. Guidance and treatment given to our patients is briefly described. It is well known that chronic debilitating disease affects not only the patient but the whole family; management of DMD should therefore include the parents and siblings of the patient. Preventability of DMD is illustrated by the experiences in our clinic. The importance of early carrier detection and genetic counseling is stressed. Possible future developments in DMD research are briefly mentioned.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442321
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Ribosomal protein synthesis in Duchenne muscular dystrophy
    Amsterdam : Elsevier
    Archives of Biochemistry and Biophysics 144 (1971), S. 51-58 
    Details
    ISSN: 0003-9861
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0003-9861(71)90453-X
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Klinische und pathologisch-anatomische Kennzeichen der akuten intermittierenden Porphyrie (1963)
    Springer
    Journal of neurology 185 (1963), S. 20-36 
    Details
    ISSN: 1432-1459
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Zusammenfassung Es wird über vier Fälle von akuter intermittierender Porphyrie berichtet. Bei zweien konnte eine pathologisch-anatomische Untersuchung vorgenommen werden. Es werden zwei Läsionstypen festgestellt: metabolische und vasculäre. Die ersteren bevorzugen das periphere Nervensystem (intensive und diffuse Entmarkungen, degenerative Läsionen der Neurone der Spinalganglien und der Ganglien des sympathischen Grenzstranges). Im Zentralnervensystem sind die Kerne der motorischen Hirnnerven der Medulla oblongata, die Oliven (pigmentäre Degeneration) und der Locus niger betroffen. Die vasculären Läsionen (meningo-cerebrales Ödem, pseudohyaline Degeneration der Capillaren, perivasculäre Infiltrationen, kleine Hämorrhagien) findet man im Zentralnervensystem, wo sie diffuse neuronale Veränderungen durch Ischämie hervorrufen. Es wird an Hand der Ergebnisse der anatomischen Untersuchung die Pathogenese der Symptome und der Läsionen besprochen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00242742
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Magnetic resonance imaging of children with Duchenne muscular dystrophy (1987)
    Springer
    Pediatric radiology 17 (1987), S. 495-497 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Eight children representing a spectrum of clinical states of biopsy-proven Duchenne muscular dystrophy (DMD) underwent magnetic resonance (MR) scans to assess the degree of muscular involvement and disease progression. Five muscle groups (neck, shoulder girdle, pelvic girdle, thigh and calf) were evaluated. In each case, involved muscles were clearly demarcated. Image estimates of disease severity by degree of muscle involvement correlated well with clinical staging. In our experience MR is useful for assessment of disease stage, selection of appropriate muscles for biopsy and planning for courses of physical and rehabilitation therapy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02388288
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  • 5
    Electronic Resource
    Electronic Resource
    Linkage studies of X-linked recessive spastic paraplegia using DNA probes (1986)
    Springer
    Human genetics 〈Berlin〉 73 (1986), S. 264-266 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A family with six males affected by X-linked spastic paraplegia (McKusick No. 31290) is described. The disease was accompanied by mental retardation in all patients (severe in four cases with IQ of 40) and by absence of extensor pollicis longus (in four cases). The following X chromosome DNA probes were used in linkage studies: 782, RC8, 99-6, 754, OTC, L128, pDP34, p43-15, DX13, and St14. The mutation is closely linked to the loci DX13 (DXS15) and Stl4 (DXS52) (no recombinants in 11 meioses) and therefore localised to the telomeric region of the long arm of the human X chromosome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00401241
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    Paper (German National Licenses)
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