Search Results - "Placzek, M R"

A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm by MISBAHUDDIN, A, PLACZEK, M. R, CHAUDHURI, K. R, WOOD, N. W, BHATIA, K. P, WARNER, T. T

“…Abnormalities in dopamine neurotransmission are thought to underlie the generation of dystonic movements. The authors performed a case-control allelic…”
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Cervical dystonia is associated with a polymorphism in the dopamine (D5) receptor gene by Placzek, M R, Misbahuddin, A, Chaudhuri, K Ray, Wood, N W, Bhatia, K P, Warner, T T

“…The objective was to assess whether polymorphisms in the dopamine receptor and transporter genes are associated with development of primary cervical dystonia…”
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Basic genetics for the clinical neurologist by Placzek, M R, Warner, T T

“…[...]there is the nuclear genome which accounts for 3300 Mb of the total genetic makeup of the cell. [...]there is the much smaller mitochondrial genome…”
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Genetic mechanisms in primary dystonia by Placzek, M R

“…The molecular and genetic mechanisms involved in the pathogenesis of primary dystonia were investigated. This was carried out with two core studies. The…”
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Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells by Misbahuddin, Anjum, Placzek, Mark R., Taanman, Jan-Willem, Gschmeissner, Steve, Schiavo, Giampietro, Cooper, J. Mark, Warner, Thomas T.

“…A single GAG deletion in the DYT1 gene causes primary early‐onset, generalized torsion dystonia. The DYT1 protein product, torsinA, belongs to the AAA+ family…”
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Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity by Valente, Enza-Maria, Misbahuddin, Anjum, Brancati, Francesco, Placzek, Mark R., Garavaglia, Barbara, Salvi, Sergio, Nemeth, Andrea, Shaw-Smith, Charles, Nardocci, Nardo, Bentivoglio, Anna-Rita, Berardelli, Alfredo, Eleopra, Roberto, Dallapiccola, Bruno, Warner, Thomas T.

“…The ϵ‐sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus–dystonia. Linkage to the SGCE locus has…”
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