DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients

Recently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi‐incident Mennonite family.

[1]  Martin J. McKeown,et al.  DNAJC13 genetic variants in parkinsonism , 2015, Movement disorders : official journal of the Movement Disorder Society.

[2]  V. Sossi,et al.  Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism , 2014, Movement disorders : official journal of the Movement Disorder Society.

[3]  R. Uitti,et al.  VPS35 and DNAJC13 disease-causing variants in essential tremor , 2014, European Journal of Human Genetics.

[4]  Wyeth W Wasserman,et al.  DNAJC13 mutations in Parkinson disease. , 2014, Human molecular genetics.

[5]  L. Johannes,et al.  Analysis of Articulation Between Clathrin and Retromer in Retrograde Sorting on Early Endosomes , 2009, Traffic.

[6]  C. Béroud,et al.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.

[7]  M. Breteler,et al.  Epidemiology of Parkinson's disease , 2006, The Lancet Neurology.

[8]  M. Onofrj,et al.  Diagnosis and management of dementia with Lewy bodies: Third report of the DLB Consortium , 2006, Neurology.

[9]  Viviane Poupon,et al.  The DnaJ-domain Protein RME-8 Functions in Endosomal Trafficking* , 2005, Journal of Biological Chemistry.

[10]  J. Hughes,et al.  Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. , 1992, Journal of neurology, neurosurgery, and psychiatry.

[11]  V. Bonifati Genetics of Parkinson's disease--state of the art, 2013. , 2014, Parkinsonism & related disorders.

[12]  C. Wider,et al.  Genetics of Parkinson's disease: the yield. , 2014, Parkinsonism & related disorders.

[13]  E. Katunina,et al.  [Epidemiology of Parkinson's disease]. , 2013, Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova.