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Literature DB >> 30838237

First Report of Kufor-Rakeb Syndrome (PARK 9) from India, and a Novel Nonsense Mutation in ATP13A2 Gene.

L K Prashanth¹, Sakthivel Murugan², Vikram Kamath¹, Ravi Gupta², Rakesh Jadav¹, S Sreekantaswamy¹, Vedam L Ramprasad².

Abstract

Entities: Disease Gene

Keywords: ATP13A2; India; PARK9; novel mutation

Year: 2015 PMID： 30838237 PMCID： PMC6353501 DOI： 10.1002/mdc3.12175

Source DB: PubMed Journal: Mov Disord Clin Pract ISSN： 2330-1619

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7 in total

1. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Authors: Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal: Genome Res Date: 2010-07-19 Impact factor: 9.043

2. The Sequence Alignment/Map format and SAMtools.

Authors: Heng Li; Bob Handsaker; Alec Wysoker; Tim Fennell; Jue Ruan; Nils Homer; Gabor Marth; Goncalo Abecasis; Richard Durbin
Journal: Bioinformatics Date: 2009-06-08 Impact factor: 6.937

3. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.

Authors: A S Najim al-Din; A Wriekat; A Mubaidin; M Dasouki; M Hiari
Journal: Acta Neurol Scand Date: 1994-05 Impact factor: 3.209

4. Fast and accurate long-read alignment with Burrows-Wheeler transform.

Authors: Heng Li; Richard Durbin
Journal: Bioinformatics Date: 2010-01-15 Impact factor: 6.937

5. Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Authors: Susanne A Schneider; Petr Dusek; John Hardy; Ana Westenberger; Joseph Jankovic; Kailash P Bhatia
Journal: Curr Neuropharmacol Date: 2013-01 Impact factor: 7.363

6. The UCSC Genome Browser database: extensions and updates 2013.

Authors: Laurence R Meyer; Ann S Zweig; Angie S Hinrichs; Donna Karolchik; Robert M Kuhn; Matthew Wong; Cricket A Sloan; Kate R Rosenbloom; Greg Roe; Brooke Rhead; Brian J Raney; Andy Pohl; Venkat S Malladi; Chin H Li; Brian T Lee; Katrina Learned; Vanessa Kirkup; Fan Hsu; Steve Heitner; Rachel A Harte; Maximilian Haeussler; Luvina Guruvadoo; Mary Goldman; Belinda M Giardine; Pauline A Fujita; Timothy R Dreszer; Mark Diekhans; Melissa S Cline; Hiram Clawson; Galt P Barber; David Haussler; W James Kent
Journal: Nucleic Acids Res Date: 2012-11-15 Impact factor: 16.971

Review 7. Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

Authors: Xinglong Yang; Yanming Xu
Journal: Biomed Res Int Date: 2014-08-14 Impact factor: 3.411

7 in total

4 in total

First Report of Kufor-Rakeb Syndrome (PARK 9) from India, and a Novel Nonsense Mutation in ATP13A2 Gene.

1. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

2. The Sequence Alignment/Map format and SAMtools.

3. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome.

4. Fast and accurate long-read alignment with Burrows-Wheeler transform.

5. Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

6. The UCSC Genome Browser database: extensions and updates 2013.

Review 7. Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

Review 1. Classification and differential diagnosis of Wilson's disease.

2. Kufor-Rakeb Syndrome/ Parkinson Disease Type 9.

3. Kufor Rakeb Syndrome with Novel Mutation and the Role of Deep Brain Stimulation.

4. Juvenile Parkinson Disease.