Literature DB >> 19396823

Arena syndrome is caused by a missense mutation in PLP1.

Roger E Stevenson1, Patrick Tarpey, Melanie M May, Michael R Stratton, Charles E Schwartz.   

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Year:  2009        PMID： 19396823     DOI： 10.1002/ajmg.a.32795

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.

Authors:  Moones Heidari; Sam H Gerami; Brianna Bassett; Ross M Graham; Anita C G Chua; Ritambhara Aryal; Michael J House; Joanna F Collingwood; Conceição Bettencourt; Henry Houlden; Mina Ryten; John K Olynyk; Debbie Trinder; Daniel M Johnstone; Elizabeth A Milward
Journal:  Rare Dis       Date:  2016-06-22

2.  A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.

Authors:  Jonathan D J Labonne; Tyler D Graves; Yiping Shen; Julie R Jones; Il-Keun Kong; Lawrence C Layman; Hyung-Goo Kim
Journal:  BMC Neurol       Date:  2016-08-09       Impact factor: 2.474
  2 in total

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