Literature DB >> 20551478

Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI.

S T Camargos, J Gurgel-Giannetti, A Lees, J Hardy, A Singleton, F Cardoso.   

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Year:  2010        PMID： 20551478      PMCID： PMC4979548          DOI： 10.1136/jnnp.2009.200808

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 in total

1.  Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.

Authors:  Zarazuela Zolkipli; Hisham Dahmoush; Dawn E Saunders; W K Kling Chong; Robert Surtees
Journal:  Pediatr Radiol       Date:  2006-06-07

2.  The "eye-of-the-tiger" sign is not pathognomonic of the PANK2 mutation.

Authors:  Neeraj Kumar; Christopher J Boes; Duscia Babovic-Vuksanovic; Bradley F Boeve
Journal:  Arch Neurol       Date:  2006-02

3.  A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

Authors:  B Zhou; S K Westaway; B Levinson; M A Johnson; J Gitschier; S J Hayflick
Journal:  Nat Genet       Date:  2001-08       Impact factor: 38.330

4.  Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

Authors:  Susan J Hayflick; Shawn K Westaway; Barbara Levinson; Bing Zhou; Monique A Johnson; Katherine H L Ching; Jane Gitschier
Journal:  N Engl J Med       Date:  2003-01-02       Impact factor: 91.245

5.  PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

Authors:  Neil V Morgan; Shawn K Westaway; Jenny E V Morton; Allison Gregory; Paul Gissen; Scott Sonek; Hakan Cangul; Jason Coryell; Natalie Canham; Nardo Nardocci; Giovanna Zorzi; Shanaz Pasha; Diana Rodriguez; Isabelle Desguerre; Amar Mubaidin; Enrico Bertini; Richard C Trembath; Alessandro Simonati; Carolyn Schanen; Colin A Johnson; Barbara Levinson; C Geoffrey Woods; Beth Wilmot; Patricia Kramer; Jane Gitschier; Eamonn R Maher; Susan J Hayflick
Journal:  Nat Genet       Date:  2006-06-18       Impact factor: 38.330
  5 in total

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