Literature DB >> 30363890

Atypical PLA2G6-Associated Neurodegeneration: Social Communication Impairment, Dystonia and Response to Deep Brain Stimulation.

Laura Cif1,2,3,4,5, Manju A Kurian6,7, Victoria Gonzalez1,2,3,4, Sara Garcia-Ptacek8, Thomas Roujeau1, Philippe Gelisse9, Ana Maria Moura de Ribeiro1, Arielle Crespel9, Lesley MacPherson10, Philippe Coubes1,2,3,4.   

Abstract

Entities:  

Keywords:  NBIA; PLA2G6; PLAN; deep brain stimulation; social communication impairment

Year:  2014        PMID： 30363890      PMCID： PMC6183017          DOI： 10.1002/mdc3.12030

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


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  9 in total

1.  Status dystonicus: predictors of outcome and progression patterns of underlying disease.

Authors:  Alfonso Fasano; Lucia Ricciardi; Anna Rita Bentivoglio; Carlotta Canavese; Giovanna Zorzi; Igor Petrovic; Nikola Kresojevic; Vladimir S Kostić; Marina Svetel; Norbert Kovacs; Istvan Balas; Agathe Roubertie; Devendra Mishra; Paolo Mariotti; Teresa Temudo; Nardo Nardocci
Journal:  Mov Disord       Date:  2012-04-06       Impact factor: 10.338

2.  Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

Authors:  Inês Carrilho; Manuela Santos; António Guimarães; João Teixeira; Rui Chorão; Márcia Martins; Cristina Dias; Allison Gregory; Shawn Westaway; Thuy Nguyen; Susan Hayflick; Clara Barbot
Journal:  Eur J Paediatr Neurol       Date:  2008-03-21       Impact factor: 3.140

3.  Treatment of a dystonic storm with pallidal stimulation in a patient with PANK2 mutation.

Authors:  Francisco Grandas; Carlos Fernandez-Carballal; Juan Guzman-de-Villoria; Israel Ampuero
Journal:  Mov Disord       Date:  2011-03-21       Impact factor: 10.338

4.  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 5.  Clinical and genetic delineation of neurodegeneration with brain iron accumulation.

Authors:  A Gregory; B J Polster; S J Hayflick
Journal:  J Med Genet       Date:  2008-11-03       Impact factor: 6.318

6.  Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Authors:  M A Kurian; N V Morgan; L MacPherson; K Foster; D Peake; R Gupta; S G Philip; C Hendriksz; J E V Morton; H M Kingston; E M Rosser; E Wassmer; P Gissen; E R Maher
Journal:  Neurology       Date:  2008-04-29       Impact factor: 9.910

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.  Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Authors:  Tobias B Haack; Penelope Hogarth; Michael C Kruer; Allison Gregory; Thomas Wieland; Thomas Schwarzmayr; Elisabeth Graf; Lynn Sanford; Esther Meyer; Eleanna Kara; Stephan M Cuno; Sami I Harik; Vasuki H Dandu; Nardo Nardocci; Giovanna Zorzi; Todd Dunaway; Mark Tarnopolsky; Steven Skinner; Steven Frucht; Era Hanspal; Connie Schrander-Stumpel; Delphine Héron; Cyril Mignot; Barbara Garavaglia; Kailash Bhatia; John Hardy; Tim M Strom; Nathalie Boddaert; Henry H Houlden; Manju A Kurian; Thomas Meitinger; Holger Prokisch; Susan J Hayflick
Journal:  Am J Hum Genet       Date:  2012-11-21       Impact factor: 11.025

9.  Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

Authors:  Coro Paisan-Ruiz; Kailash P Bhatia; Abi Li; Dena Hernandez; Mary Davis; Nick W Wood; John Hardy; Henry Houlden; Andrew Singleton; Susanne A Schneider
Journal:  Ann Neurol       Date:  2009-01       Impact factor: 11.274
  9 in total
  3 in total

Review 1.  A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.

Authors:  Philippe A Salles; James Liao; Umar Shuaib; Ignacio F Mata; Hubert H Fernandez
Journal:  J Parkinsons Dis       Date:  2022       Impact factor: 5.520

Review 2.  Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation.

Authors:  Robert V V Spaull; Audrey K S Soo; Penelope Hogarth; Susan J Hayflick; Manju A Kurian
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2021-11-24

Review 3.  Women in Neuromodulation: Innovative Contributions to Stereotactic and Functional Neurosurgery.

Authors:  Petra Heiden; Julia Pieczewski; Pablo Andrade
Journal:  Front Hum Neurosci       Date:  2022-01-20       Impact factor: 3.169
  3 in total

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