Comparison of kindreds with parkinsonism and α‐synuclein genomic multiplications

By M. Farrer, J. Kachergus, L. Forno, S. Lincoln, Deng-shun Wang, M. Hulihan, D. Maraganore, K. Gwinn‐Hardy, Z. Wszolek, Dennis W. Dickson and 1 more. 2004

637 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Neurology

View Paper: https://www.semanticscholar.org/paper/7d4a08167d7d9f05640c158a851bf8d8c1ea46ab

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cellular and Molecular Neuroscience

1. Vladimir N Uversky
2. Christian Haass

In Neurology

1. A. Lutz
2. Vladimir N Uversky
3. Christian Haass
4. K. Winklhofer
5. Nicole Exner

Citations in the corpus

• Mitochondrial dysfunction in Parkinson's disease: molecular mechanisms and pathophysiological consequences (2012, positive): “…a - synuclein gene and genomic duplications or triplications have been identified in patients with autosomal dominant parkinsonism (Polymeropoulos et al , 1997; Kruger et al , 1998; Singleton et al , 2003; Chartier-Harlin et al , 2004; Farrer et al , 2004; Ibanez et al , 2004; Zarranz et al , 2004).”
• A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. (2007, background): “, 2006) and triplications (Farrer et al., 2004; Polymeropoulos et al., 1997; Singleton et al., 2003) for Parkinson’s disease, and a selected small fraction of complex rearrangements of chromosome 17 causing congenital anomalies and Potocki-Lupski syndrome (Potocki et al.”
• Α-synuclein misfolding and Parkinson's disease. (2012, background): “• Autosomal dominant early-onset PD is induced as a result of three different missense mutations in the α-synuclein gene, corresponding to A30P, E46K, andA53T substitutions inα-synuclein [3, 5,6], or as a result of the overexpression of the wild typeα-synuclein protein due to gene triplication [7–9]”
• Genetics of Parkinson's disease. (2012, background): “Triplications of the SNCA gene were found in three independent families (Singleton et al. 2003; Farrer et al. 2004; Ibanez et al. 2009).”