Literature DB >> 28619201

Lafora Disease Is an Inherited Metabolic Cardiomyopathy.

María Villalba-Orero, Gentzane Sánchez-Elexpuru, Marina López-Olañeta, Oscar Campuzano, Elisabet Bello-Arroyo, Pablo García-Pavía, José M Serratosa, Ramón Brugada, Marina P Sánchez, Enrique Lara-Pezzi.   

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Year:  2017        PMID： 28619201      PMCID： PMC5481153          DOI： 10.1016/j.jacc.2017.04.029

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN： 0735-1097            Impact factor:   24.094


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  5 in total

1.  Mechanisms of unexpected and/or sudden death in Lafora disease.

Authors:  Regula Wick; Roger W Byard
Journal:  Forensic Sci Int       Date:  2005-12-02       Impact factor: 2.395

Review 2.  Neuromuscular disorders of glycogen metabolism.

Authors:  Elisabetta Gazzerro; Antoni L Andreu; Claudio Bruno
Journal:  Curr Neurol Neurosci Rep       Date:  2013-03       Impact factor: 5.081

Review 3.  Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy.

Authors:  Carlos Romá-Mateo; Carmen Aguado; José Luis García-Giménez; Erwin Knecht; Pascual Sanz; Federico V Pallardó
Journal:  Free Radic Biol Med       Date:  2015-02-10       Impact factor: 7.376

4.  Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.

Authors:  Olga Criado; Carmen Aguado; Javier Gayarre; Lara Duran-Trio; Ana M Garcia-Cabrero; Santiago Vernia; Beatriz San Millán; Miguel Heredia; Carlos Romá-Mateo; Silvana Mouron; Lucía Juana-López; Mercedes Domínguez; Carmen Navarro; Jose M Serratosa; Marina Sanchez; Pascual Sanz; Paola Bovolenta; Erwin Knecht; Santiago Rodriguez de Cordoba
Journal:  Hum Mol Genet       Date:  2011-12-20       Impact factor: 6.150

Review 5.  Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives.

Authors:  Barry J Maron; Martin S Maron; Christopher Semsarian
Journal:  J Am Coll Cardiol       Date:  2012-07-11       Impact factor: 24.094
  5 in total
  3 in total

1.  Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion.

Authors:  M Kathryn Brewer; Annette Uittenbogaard; Grant L Austin; Dyann M Segvich; Anna DePaoli-Roach; Peter J Roach; John J McCarthy; Zoe R Simmons; Jason A Brandon; Zhengqiu Zhou; Jill Zeller; Lyndsay E A Young; Ramon C Sun; James R Pauly; Nadine M Aziz; Bradley L Hodges; Tracy R McKnight; Dustin D Armstrong; Matthew S Gentry
Journal:  Cell Metab       Date:  2019-07-25       Impact factor: 27.287

Review 2.  Lafora disease: from genotype to phenotype.

Authors:  Rashmi Parihar; Anupama Rai; Subramaniam Ganesh
Journal:  J Genet       Date:  2018-07       Impact factor: 1.166

3.  Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease.

Authors:  Daniel F Burgos; Lorena Cussó; Gentzane Sánchez-Elexpuru; Daniel Calle; Max Bautista Perpinyà; Manuel Desco; José M Serratosa; Marina P Sánchez
Journal:  Int J Mol Sci       Date:  2020-10-20       Impact factor: 5.923
  3 in total

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