Literature DB >> 24339182

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

Claudia Perandones1, Luis Alejandro Pellene, Federcio Micheli.   

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Year:  2013        PMID： 24339182     DOI： 10.1002/mds.25738

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  3 in total

Review 1.  Drug Treatment of Progressive Myoclonic Epilepsy.

Authors:  Gregory L Holmes
Journal:  Paediatr Drugs       Date:  2020-04       Impact factor: 3.022

Review 2.  Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Authors:  Malco Rossi; Sterre van der Veen; Marcelo Merello; Marina A J Tijssen; Bart van de Warrenburg
Journal:  Mov Disord Clin Pract       Date:  2020-11-03

3.  Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure.

Authors:  Jin He; Han Lin; Jin-Jing Li; Hui-Zhen Su; Dan-Ni Wang; Yu Lin; Ning Wang; Wan-Jin Chen
Journal:  Chin Med J (Engl)       Date:  2018-07-05       Impact factor: 2.628
  3 in total

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