Literature DB >> 16924033

Periventricular heterotopia in fragile X syndrome.

F Moro1, T Pisano, B Dalla Bernardina, R Polli, A Murgia, L Zoccante, F Darra, A Battaglia, T Pramparo, O Zuffardi, R Guerrini.   

Abstract

The authors describe two unrelated individuals with fragile X syndrome (FXS) due to marked expansion and instability of the CGG trinucleotide repeats within the fragile X mental retardation 1 gene (FMR1) and periventricular heterotopia (PH). This observation suggests that the FMR1 gene is involved in neuronal migration and that abnormal neuronal migration, even beyond the resolution of MRI, contributes to the neurologic phenotype of FXS.

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Year:  2006        PMID： 16924033     DOI： 10.1212/01.wnl.0000230223.51595.99

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


  17 in total

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Journal:  Mol Syndromol       Date:  2010-01-08

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4.  Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.

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5.  Fragile x mental retardation 1 and filamin a interact genetically in Drosophila long-term memory.

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6.  Tissue plasminogen activator contributes to alterations of neuronal migration and activity-dependent responses in fragile X mice.

Authors:  V Swaroop Achuta; Veronika Rezov; Marko Uutela; Verna Louhivuori; Lauri Louhivuori; Maija L Castrén
Journal:  J Neurosci       Date:  2014-01-29       Impact factor: 6.167

7.  Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome.

Authors:  Claudia M Greco; Celestine S Navarro; Michael R Hunsaker; Izumi Maezawa; John F Shuler; Flora Tassone; Mary Delany; Jacky W Au; Robert F Berman; Lee-Way Jin; Cynthia Schumann; Paul J Hagerman; Randi J Hagerman
Journal:  Mol Autism       Date:  2011-02-08       Impact factor: 7.509

8.  Developmental learning impairments in a rodent model of nodular heterotopia.

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Journal:  J Neurodev Disord       Date:  2009-07-16       Impact factor: 4.025

Review 9.  A developmental and genetic classification for malformations of cortical development: update 2012.

Authors:  A James Barkovich; Renzo Guerrini; Ruben I Kuzniecky; Graeme D Jackson; William B Dobyns
Journal:  Brain       Date:  2012-03-16       Impact factor: 13.501

Review 10.  From Learning to Memory: What Flies Can Tell Us about Intellectual Disability Treatment.

Authors:  Alaura Androschuk; Basma Al-Jabri; Francois V Bolduc
Journal:  Front Psychiatry       Date:  2015-06-03       Impact factor: 4.157
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