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  • 1
    Electronic Resource
    Electronic Resource
    Restriction in T-Cell Receptor Repertoire in a Patient Affected by Trichothiodystrophy and CD4+ Lymphopenia (2002)
    Oxford, UK : Blackwell Science Ltd
    Scandinavian journal of immunology 56 (2002), S. 0 
    Details
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Molecular analysis of T-cell receptor (TCR) repertoire, by measuring the CDR3 heterogeneity length of beta-variable regions (spectratyping), is useful for acquiring novel information on the status of immune system in primary immunodeficiency. Here, we evaluate TCR repertoire in a child with trichothiodystrophy (TTD) and combined immunodeficiency (CID). Spectratyping revealed marked alterations of TCR repertoire distribution: 21 and 10 out of 27 TCR Vβ (TCRBV) families and subfamilies were skewed in CD8+ and CD4+ subsets, respectively. These findings revealed, for the first time in a TTD patient with CID, a marked reduction in the TCR repertoire complexity, which may reflect alterations in the mechanisms regulating the generation and homeostasis of T cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-3083.2002.01122.x
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  • 2
    Electronic Resource
    Electronic Resource
    Spinal muscular atrophies: recent insights and impact on molecular diagnosis (1996)
    Springer
    Journal of molecular medicine 74 (1996), S. 555-562 
    Details
    ISSN: 1432-1440
    Keywords: Key words Spinal muscular atrophy ; Survival motor neuron gene ; Molecular diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Spinal muscular atrophies (SMA) are a group of motor neuron diseases characterized by degeneration of anterior horn cells of the spinal cord and by muscular atrophy. Childhood-onset SMA is one of the most frequent autosomal recessive diseases and a leading cause of infant mortality. The underlying biochemical defect of SMA is unknown. Recently two genes have been isolated from the critical region at 5q13, the survival motor neuron (SMN) gene and the neuronal apoptosis inhibitor protein (NAIP) gene. Both genes are frequently deleted in SMA patients. NAIP is deleted in at least 45% of severely affected patients but less frequently in the milder forms. Homozygous deletions of exon 7 of SMN are found in approximately 95% of patients independently of clinical severity. A few point mutations and microdeletions in SMN have also been reported. This high frequency of deletions makes SMN analysis an important molecular diagnostic tool for childhood-onset SMA and greatly facilitates prenatal diagnosis. SMN analysis has also proven useful for the diagnosis of adult-onset SMA and variant forms. Although questions such as phenotype-genotype correlation must still be solved, the isolation of SMN and adjacent genes constitutes an important step towards the understanding of the molecular basis of the disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001090050059
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  • 3
    Electronic Resource
    Electronic Resource
    Zum Fundamentalsatz aus der Theorie der algebraischen Functionen (1889)
    Springer
    Mathematische Annalen 34 (1889), S. 447-449 
    Details
    ISSN: 1432-1807
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01444051
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  • 4
    Electronic Resource
    Electronic Resource
    Sopra un teorema del sig. Netto (1889)
    Springer
    Mathematische Annalen 35 (1889), S. 456-456 
    Details
    ISSN: 1432-1807
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01443866
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  • 5
    Electronic Resource
    Electronic Resource
    Transformazione di una curva algebrica in un'altra con soli punti doppi (1894)
    Springer
    Mathematische Annalen 44 (1894), S. 79-82 
    Details
    ISSN: 1432-1807
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01446972
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  • 6
    Electronic Resource
    Electronic Resource
    Trasformazione di una curva algebrica in un'altra con soli punti doppi (1894)
    Springer
    Mathematische Annalen 44 (1894), S. 158-160 
    Details
    ISSN: 1432-1807
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01446979
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  • 7
    Electronic Resource
    Electronic Resource
    Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments (1993)
    Springer
    Virchows Archiv 422 (1993), S. 327-331 
    Details
    ISSN: 1432-2307
    Keywords: Myopathy ; Cardiomyopathy ; Slow myosin heavy chain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present a undescribed condition in a girl who died at 8 years of hypertrophic cardiomyopathy. Muscle and endomyocardial biopsies disclosed a selective loss of thick filaments ultrastructurally. In muscle biopsy histochemical abnormalities of myofibrillar AT-Pase were confined to type 1 fibres. Gel electrophoresis of muscle homogenate showed no qualitative abnormalities of slow and fast myosin heavy chains (MHC) and light chains, and the amount of the different myosin isozymes was in agreement with histochemical myofibrillar ATPase findings. The pathogenetic mechanisms have not been elucidated in this case but we suspect an abnormality of theβ-cardiac MHC gene, the only gene expressed in the heart and in type 1 skeletal muscle fibres.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01608343
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  • 8
    Electronic Resource
    Electronic Resource
    Autosomal recessive hypermyelinating neuropathy (1994)
    Springer
    Acta neuropathologica 87 (1994), S. 337-342 
    Details
    ISSN: 1432-0533
    Keywords: Key words: Polyneuropathy – Hereditary motor and sensory neuropathy – Demyelination – Myelin sheath foldings
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that "hypermyelination neuropathy" with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00313601
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  • 9
    Electronic Resource
    Electronic Resource
    Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings (1994)
    Springer
    Acta neuropathologica 87 (1994), S. 106-112 
    Details
    ISSN: 1432-0533
    Keywords: Key words: Reducing body myopathy – Desmin storage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. We describe clinical, morphological and biochemical findings of a patient with reducing body myopathy (RBM). This 15-year-old patient was affected by severe limb-girdle progressive myopathy with asymmetric distribution. Muscle biopsy showed many fibers with cytoplasmic polymorphic masses, which stained dark purple with modified Gomori's trichrome, associated with proliferation of cytoplasmic bodies. Cytoplasmic polymorphic masses showed marked reducing activity with menadione-nitro blue tetrazolium reaction. Ultrastructurally, there was great amount of highly electron-dense tubular-filamentous structures of 16 – 17 nm in diameter. Immunohistochemistry showed that many fibers were positive for desmin. Sodium dodecyl sulfate-electrophoresis disclosed an increase in two bands of approximately 53 and 70 kDa, and Western blot demonstrated that the 53-kDa band was desmin. It was not possible to characterize the 70-kDa protein further.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00386261
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  • 10
    Electronic Resource
    Electronic Resource
    Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings (1994)
    Springer
    Acta neuropathologica 87 (1994), S. 106-112 
    Details
    ISSN: 1432-0533
    Keywords: Recuding body myopathy ; Desmin storage peripheral nerves [3, 16, 20] ; We describe a new condition of desmin storage in a patient with typical reducing body myopathy (RBM)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe clinical, morphological and biochemical findings of a patient with reducing body myopathy (RBM). This 15-year-old patient was affected by severe limb-girdle progressive myopathy with asymmetric distribution. Muscle biopsy showed many fibers with cytoplasmic polymorphic masses, which stained dark purple with modified Gomori's trichrome, associated with proliferation of cytoplasmic bodies. Cytoplasmic polymorphic masses showed marked reducing activity with menadione-nitro blue tetrazolium reaction. Ultrastructurally, there was great amount of highly electron-dense tubular-filamentous structures of 16–17 nm in diameter. Immunohistochemistry showed that many fibers were positive for desmin. Sodium dodecyl sulfate-electrophoresis disclosed an increase in two bands of approximately 53 and 70 kDa, and Western blot demonstrated that the 53-kDa band was desmin. It was not possible to characterize the 70-kDa protein further.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00386261
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    Paper (German National Licenses)
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