Literature DB >> 23284070

Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders.

Alex R Paciorkowski, Basil T Darras.   

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Year:  2013        PMID： 23284070     DOI： 10.1212/WNL.0b013e31827f101c

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


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  3 in total

1.  Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

Authors:  Ginevra Zanni; Chiara Scotton; Chiara Passarelli; Mingyan Fang; Sabina Barresi; Bruno Dallapiccola; Bin Wu; Francesca Gualandi; Alessandra Ferlini; E Bertini; Wang Wei
Journal:  Neurogenetics       Date:  2013-08-24       Impact factor: 2.660

2.  Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains.

Authors:  Guang Bai; Iris Cheung; Hennady P Shulha; Joana E Coelho; Ping Li; Xianjun Dong; Mira Jakovcevski; Yumei Wang; Anastasia Grigorenko; Yan Jiang; Andrew Hoss; Krupal Patel; Ming Zheng; Evgeny Rogaev; Richard H Myers; Zhiping Weng; Schahram Akbarian; Jiang-Fan Chen
Journal:  Hum Mol Genet       Date:  2014-12-05       Impact factor: 6.150

3.  Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome.

Authors:  Pedro A Lazo; Juan L García; Paulino Gómez-Puertas; Íñigo Marcos-Alcalde; Cesar Arjona; Alvaro Villarroel; Rogelio González-Sarmiento; Carmen Fons
Journal:  Int J Mol Sci       Date:  2020-06-23       Impact factor: 5.923
  3 in total

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