Literature DB >> 27378808

Child Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration.

Robert B Blake1, Donald L Gilbert2, Mark B Schapiro2.   

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Year:  2016        PMID： 27378808      PMCID： PMC4932241          DOI： 10.1212/WNL.0000000000002804

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  9 in total

Review 1.  Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.

Authors:  Manju A Kurian; Susan J Hayflick
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

Review 2.  Therapeutic advances in neurodegeneration with brain iron accumulation.

Authors:  Giovanna Zorzi; Nardo Nardocci
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

3.  Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.

Authors:  Danielle Crompton; Pauline K Rehal; Lesley MacPherson; Katharine Foster; Peter Lunt; Imelda Hughes; Angela F Brady; Michael G Pike; Susanna De Gressi; Neil V Morgan; Carol Hardy; Matthew Smith; Fiona MacDonald; Eamonn R Maher; Manju A Kurian
Journal:  Mol Genet Metab       Date:  2010-02-16       Impact factor: 4.797

Review 4.  Phenomenology and classification of dystonia: a consensus update.

Authors:  Alberto Albanese; Kailash Bhatia; Susan B Bressman; Mahlon R Delong; Stanley Fahn; Victor S C Fung; Mark Hallett; Joseph Jankovic; Hyder A Jinnah; Christine Klein; Anthony E Lang; Jonathan W Mink; Jan K Teller
Journal:  Mov Disord       Date:  2013-05-06       Impact factor: 10.338

5.  Imaging decreased brain docosahexaenoic acid metabolism and signaling in iPLA(2)β (VIA)-deficient mice.

Authors:  Mireille Basselin; Angelo O Rosa; Epolia Ramadan; Yewon Cheon; Lisa Chang; Mei Chen; Deanna Greenstein; Mary Wohltmann; John Turk; Stanley I Rapoport
Journal:  J Lipid Res       Date:  2010-08-04       Impact factor: 5.922

6.  Infantile neuroaxonal dystrophy.

Authors:  J Aicardi; P Castelein
Journal:  Brain       Date:  1979-12       Impact factor: 13.501

7.  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

8.  Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction.

Authors:  Kerri J Kinghorn; Jorge Iván Castillo-Quan; Fernando Bartolome; Plamena R Angelova; Li Li; Simon Pope; Helena M Cochemé; Shabana Khan; Shabnam Asghari; Kailash P Bhatia; John Hardy; Andrey Y Abramov; Linda Partridge
Journal:  Brain       Date:  2015-05-22       Impact factor: 13.501

9.  PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

Authors:  M A Illingworth; E Meyer; W K Chong; A Y Manzur; L J Carr; R Younis; C Hardy; F McDonald; A M Childs; B Stewart; D Warren; R Kneen; M D King; S J Hayflick; M A Kurian
Journal:  Mol Genet Metab       Date:  2014-03-29       Impact factor: 4.797
  9 in total
  1 in total

1.  Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease.

Authors:  Rosangela Ferese; Simona Scala; Francesca Biagioni; Emiliano Giardina; Stefania Zampatti; Nicola Modugno; Claudio Colonnese; Marianna Storto; Francesco Fornai; Giuseppe Novelli; Stefano Ruggieri; Stefano Gambardella
Journal:  Front Neurol       Date:  2018-07-10       Impact factor: 4.003
  1 in total

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