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Showing 1 to 8 of 8 for “"HMSN"”.
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Identifizierung und Charakterisierung des Gens für die autosomal rezessiv erbliche Charcot-Marie-Tooth-Neuropathie Typ 4C (CMT4C)
Hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth neuropathy (CMT) is the most common inherited neuromuscular disorder. In most of the families, HMSN is inherited as an autosomal dominant or X-linked trait. In Western Europe, autosomal recessive HMSN (AR-HMSN) is much less …
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Molekulargenetik der autosomal rezessiven Charcot-Marie-Tooth-Neuropathie mit fokal gefalteten Myelinscheiden
The hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth neuropathies are the most common hereditary neuromuscular disorder. In most families the disorder follows an autosomal dominant or X-linked mode of inheritance. Autosomal recessive HMSN (AR-HMSN) is rare in Western Europe, …
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Molekulargenetische und funktionelle Untersuchungen zu autosomal-rezessiv erblichen Neuropathien
The hereditary motor and sensitive neuropathy (HMSN), also called Charcot-Marie-Tooth neuropathy, represents the most frequent inherited neuromuscular disorder. In most cases HMSN is of autosomal dominant or X-chromosomal trait. Yet, the autosomal recessive inherited form (AR-HMSN) is less frequent …
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Modifikation der enzymatischen Mutationsdetektionsmethode (EMD) zur Identifikation von Punktmutationen im PMP22-Gen nach DNA-Isolierung aus Nerv, Muskel oder Blut
Hereditary Motor and Sensory Neuropathies (HMSN) are a group of genetically determined disorders of the peripheral nervous system, which are clinically characterised by chronic, progressive weakness of the lower limbs, muscular atrophy and sensibility disorders. Phenotypic variability, however, is …
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Novel thin film nanocomposite membranes with improved properties for enhanced desalination performance
… hollow mesoporous silica nanoparticles (HMSN) have been used to fabricate novel TFN membranes in order to study the contribution of this peculiar porous structure on the properties and desalination performance of the resulting TFN membranes. The HMSN with an average particle size of ~ 68 …
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Zur Differenzierung hereditärer sensomotorischer Neuropathien mittels Mutationsanalyse des P0-Gens an Paraffin-eingebetteten Suralnervenbiopsien
HMSN is a heterogenous entity of genetically determined disorders of the peripheral nervous system. Clinical and morphological data sometimes do not allow to come to a definite diagnosis regarding the subtype of the disease. Therefore, genetic investigations are essential. The present dissertation …
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Klinik und Molekulargenetik der hereditären motorischen und sensiblen Neuropathien im Kindesalter
Hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease comprises a group of clinically and genetically heterogeneous disorders of the peripheral nervous system. With an overall prevalence of 1 in 2500, CMT is the most common inherited neuromuscular disorder in man. This …
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Die Rolle von Immunzellen bei der primär genetisch-vermittelten Demyelinisierung in einem Mausmodell für die Charcot-Marie-Tooth-Neuropathie, Typ 1X
Ziel der vorliegenden Arbeit war, zu untersuchen, ob Immunzellen den Schweregrad einer peripheren Neuropathie im Mausmodell von CMT1X (Cx32def (Cx32-defiziente) Maus) beeinflussen können. Mit Hilfe von immunhistochemischen Färbemethoden, lichtmikroskopischen, immunelektronenmikroskopischen und …