Literature DB >> 36247915

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

Sruthi Kola1, Sai Sri Lakshmi Meka1, Tazeem Fathima Syed1, Rukmini Mridula Kandadai1, Rajesh Alugolu2, Rupam Borgohain1.   

Abstract

Entities:  

Keywords:  DBS; Kufor Rakeb syndrome; Parkinson's disease

Year:  2022        PMID： 36247915      PMCID： PMC9547128          DOI： 10.1002/mdc3.13518

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


× No keyword cloud information.
  7 in total

1.  Pallido-pyramidal disease.

Authors:  C DAVISON
Journal:  J Neuropathol Exp Neurol       Date:  1954-01       Impact factor: 3.685

2.  Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.

Authors:  Benjamin Dehay; Alfredo Ramirez; Marta Martinez-Vicente; Celine Perier; Marie-Hélène Canron; Evelyne Doudnikoff; Anne Vital; Miquel Vila; Christine Klein; Erwan Bezard
Journal:  Proc Natl Acad Sci U S A       Date:  2012-05-30       Impact factor: 11.205

3.  Siblings with unusual presentation of early onset Parkinson's disease with dual heterozygous PARK2 and PARK 9 mutation.

Authors:  Koustav Chatterjee; Supriyo Choudhury; Shantanu Shubham; Banashree Mondal; Purba Basu; Hrishikesh Kumar
Journal:  Parkinsonism Relat Disord       Date:  2018-03-27       Impact factor: 4.891

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

Authors:  Vykuntaraju K Gowda; Varunvenkat M Srinivasan; Sanjay K Shivappa
Journal:  Indian J Pediatr       Date:  2020-01-14       Impact factor: 1.967

5.  Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.

Authors:  D J Hampshire; E Roberts; Y Crow; J Bond; A Mubaidin; A L Wriekat; A Al-Din; C G Woods
Journal:  J Med Genet       Date:  2001-10       Impact factor: 6.318

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

Authors:  L K Prashanth; Sakthivel Murugan; Vikram Kamath; Ravi Gupta; Rakesh Jadav; S Sreekantaswamy; Vedam L Ramprasad
Journal:  Mov Disord Clin Pract       Date:  2015-05-09

7.  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
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.