Shawn Bubel

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Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. Haplotype analyses refined the(More)
CDG (congenital disorders of glycosylation) ist eine genetisch bedingte Multisystemerkrankung bedingt durch unterschiedliche Enzym- bzw. Transportdefekte an verschiedenen Stellen der Glykoproteinsynthese. Der am häufigsten diagnostizierte Typ ist das CDG-Ia, bei dem neurologisch eine zerebelläre Ataxie dominiert. Bisher gibt es nur geringes Wissen über die(More)
Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem diseases due to different defects of enzymes or transport molecules involved in the synthesis of glycoproteins. CDG-la is the most common subtype, with cerebellar ataxia as the main neurological symptom. Currently there is little information about CDG-la manifestation in(More)
Elucidating the Origins of Heterosexual Sex Differences in Mating Psychology by Examining the Behaviour of Homosexual Men and Women Various competing theoretical frameworks have been invoked to explain heterosexual sex differences in mating psychology. Chapter One provides examples of such frameworks, details how considering both heterosexual and homosexual(More)
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