Literature DB >> 17562838

Neurological findings in aminoacylase 1 deficiency.

J O Sass1, H Olbrich, V Mohr, C Hart, B Woldseth, S Krywawych, B Bjurulf, P K Lakhani, R M Buchdahl, H Omran.   

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Year:  2007        PMID： 17562838     DOI： 10.1212/01.wnl.0000264933.56204.e8

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


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  5 in total

1.  Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.

Authors:  Jörn Oliver Sass; Jathana Vaithilingam; Corinne Gemperle-Britschgi; Cathérine C S Delnooz; Leo A J Kluijtmans; Bart P C van de Warrenburg; Ron A Wevers
Journal:  Metab Brain Dis       Date:  2015-12-19       Impact factor: 3.584

2.  Extensive aspartoacylase expression in the rat central nervous system.

Authors:  John R Moffett; Peethambaran Arun; Prasanth S Ariyannur; James Y Garbern; David M Jacobowitz; Aryan M A Namboodiri
Journal:  Glia       Date:  2011-05-19       Impact factor: 7.452

3.  Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum.

Authors:  Maria G Alessandrì; Manuela Casarano; Ilaria Pezzini; Stefano Doccini; Claudia Nesti; Giovanni Cioni; Roberta Battini
Journal:  JIMD Rep       Date:  2014-07-06

4.  Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.

Authors:  Paula J Waters; Thomas M Kitzler; Annette Feigenbaum; Michael T Geraghty; Osama Al-Dirbashi; Patrick Bherer; Christiane Auray-Blais; Serge Gravel; Nathan McIntosh; Komudi Siriwardena; Yannis Trakadis; Catherine Brunel-Guitton; Walla Al-Hertani
Journal:  JIMD Rep       Date:  2017-08-02

5.  Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Authors:  Ahmed B Alsalem; Anason S Halees; Shamsa Anazi; Shomoukh Alshamekh; Fowzan S Alkuraya
Journal:  PLoS Genet       Date:  2013-12-19       Impact factor: 5.917
  5 in total

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