Literature DB >> 26258735

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.

Cynthia V Bourassa1, Salmo Raskin2, Sérgio Serafini3, Hélio A G Teive4, Patrick A Dion1, Guy A Rouleau1.   

Abstract

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Year:  2015        PMID： 26258735     DOI： 10.1001/jamaneurol.2015.0888

Source DB:  PubMed          Journal:  JAMA Neurol        ISSN： 2168-6149            Impact factor:   18.302


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  17 in total

Review 1.  Docosanoids and elovanoids from omega-3 fatty acids are pro-homeostatic modulators of inflammatory responses, cell damage and neuroprotection.

Authors:  Nicolas G Bazan
Journal:  Mol Aspects Med       Date:  2018-10-01

Review 2.  The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review.

Authors:  Hélio A G Teive; Alex T Meira; Carlos Henrique F Camargo; Renato P Munhoz
Journal:  Mov Disord Clin Pract       Date:  2019-08-16

3.  Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation.

Authors:  Ghazal Haeri; Fahimeh Hajiakhoundi; Afagh Alavi; Maryam Ghiasi; Renato P Munhoz; Mohammad Rohani
Journal:  Mov Disord Clin Pract       Date:  2021-01-11

4.  Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice.

Authors:  Eriola Hoxha; Rebecca M C Gabriele; Ilaria Balbo; Francesco Ravera; Linda Masante; Vanessa Zambelli; Cristian Albergo; Nico Mitro; Donatella Caruso; Eleonora Di Gregorio; Alfredo Brusco; Barbara Borroni; Filippo Tempia
Journal:  Front Cell Neurosci       Date:  2017-10-30       Impact factor: 5.505

5.  Homozygous Expression of Mutant ELOVL4 Leads to Seizures and Death in a Novel Animal Model of Very Long-Chain Fatty Acid Deficiency.

Authors:  Blake R Hopiavuori; Ferenc Deák; Joseph L Wilkerson; Richard S Brush; Nicole A Rocha-Hopiavuori; Austin R Hopiavuori; Kathryn G Ozan; Michael T Sullivan; Jonathan D Wren; Constantin Georgescu; Luke Szweda; Vibhudutta Awasthi; Rheal Towner; David M Sherry; Robert E Anderson; Martin-Paul Agbaga
Journal:  Mol Neurobiol       Date:  2017-11-22       Impact factor: 5.590

6.  Elovanoids are novel cell-specific lipid mediators necessary for neuroprotective signaling for photoreceptor cell integrity.

Authors:  Bokkyoo Jun; Pranab K Mukherjee; Aram Asatryan; Marie-Audrey Kautzmann; Jessica Heap; William C Gordon; Surjyadipta Bhattacharjee; Rong Yang; Nicos A Petasis; Nicolas G Bazan
Journal:  Sci Rep       Date:  2017-07-13       Impact factor: 4.379

7.  Distribution of ELOVL4 in the Developing and Adult Mouse Brain.

Authors:  David M Sherry; Blake R Hopiavuori; Megan A Stiles; Negar S Rahman; Kathryn G Ozan; Ferenc Deak; Martin-Paul Agbaga; Robert E Anderson
Journal:  Front Neuroanat       Date:  2017-05-01       Impact factor: 3.856

8.  Regional changes in CNS and retinal glycerophospholipid profiles with age: a molecular blueprint.

Authors:  Blake R Hopiavuori; Martin-Paul Agbaga; Richard S Brush; Michael T Sullivan; William E Sonntag; Robert E Anderson
Journal:  J Lipid Res       Date:  2017-02-15       Impact factor: 5.922

9.  Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).

Authors:  Pierre R Bourque; Jodi Warman-Chardon; Daniel A Lelli; Lauren LaBerge; Carly Kirshen; Scott H Bradshaw; Taila Hartley; Kym M Boycott
Journal:  Neurol Genet       Date:  2018-07-26

10.  Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).

Authors:  Barbara Borroni; Eleonora Di Gregorio; Laura Orsi; Giovanna Vaula; Chiara Costanzi; Filippo Tempia; Nico Mitro; Donatella Caruso; Marta Manes; Lorenzo Pinessi; Alessandro Padovani; Alfredo Brusco; Loredana Boccone
Journal:  Parkinsonism Relat Disord       Date:  2016-04-27       Impact factor: 4.891
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