Published in Brain on February 04, 2007
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Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet (2009) 2.73
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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet (2004) 2.47
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Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
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WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet (2010) 2.40
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Current status and new features of the Consensus Coding Sequence database. Nucleic Acids Res (2013) 2.19
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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet (2008) 2.16
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration. Proc Natl Acad Sci U S A (2012) 2.16
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
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Metabolomic profiling to develop blood biomarkers for Parkinson's disease. Brain (2008) 2.10
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Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells. J Neurosci (2011) 1.98
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
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