Search Results - "Rudnicki, Doda"
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Idiopathic Torsion Dystonia: Assignment of a Gene to Chromosome 18p in a German Family With Adult Onset, Autosomal Dominant Inheritance and Purely Focal Distribution
Published in Human molecular genetics (01-10-1996)“…Idiopathic torsion dystonia (ITD) is a group of movement disorders which is usually inherited in an autosomal dominant manner with reduced penetrance. Most…”
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Identification of the Physiological Promoter for Spinocerebellar Ataxia 2 Gene Reveals a CpG Island for Promoter Activity Situated into the Exon 1 of This Gene and Provides Data about the Origin of the Nonmethylated State of These Types of Islands
Published in Biochemical and biophysical research communications (19-01-1999)“…In order to further use the spinocerebellar ataxia 2 (SCA2) promoter for transgenic mice models of “CAG repeat” neurodegeneration, different fragments of this…”
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Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q
Published in Genome research (01-11-1998)“…Autosomal dominant familial spastic paraplegia (AD-FSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of…”
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