Literature DB >> 31933133

Kufor-Rakeb Syndrome/ Parkinson Disease Type 9.

Vykuntaraju K Gowda1, Varunvenkat M Srinivasan2, Sanjay K Shivappa3.   

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Year:  2020        PMID： 31933133     DOI： 10.1007/s12098-019-03167-0

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  5 in total

1.  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

2.  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

3.  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

4.  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

5.  ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

Authors:  A Di Fonzo; H F Chien; M Socal; S Giraudo; C Tassorelli; G Iliceto; G Fabbrini; R Marconi; E Fincati; G Abbruzzese; P Marini; F Squitieri; M W Horstink; P Montagna; A Dalla Libera; F Stocchi; S Goldwurm; J J Ferreira; G Meco; E Martignoni; L Lopiano; L B Jardim; B A Oostra; E R Barbosa; V Bonifati
Journal:  Neurology       Date:  2007-05-08       Impact factor: 9.910
  5 in total
  2 in total

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

Authors:  Sruthi Kola; Sai Sri Lakshmi Meka; Tazeem Fathima Syed; Rukmini Mridula Kandadai; Rajesh Alugolu; Rupam Borgohain
Journal:  Mov Disord Clin Pract       Date:  2022-07-27

Review 2.  Dictyostelium discoideum: A Model System for Neurological Disorders.

Authors:  Claire Louise Storey; Robin Simon Brooke Williams; Paul Robert Fisher; Sarah Jane Annesley
Journal:  Cells       Date:  2022-01-28       Impact factor: 6.600
  2 in total

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