Literature DB >> 25409382

Somatic mutations in cerebral cortical malformations.

Saumya S Jamuar, Christopher A Walsh.   

Abstract

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Year:  2014        PMID： 25409382     DOI： 10.1056/NEJMc1411784

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  14 in total

Review 1.  Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations.

Authors:  Jesse J Salk; Michael W Schmitt; Lawrence A Loeb
Journal:  Nat Rev Genet       Date:  2018-03-26       Impact factor: 53.242

2.  BRAFV600E expression in neural progenitors results in a hyperexcitable phenotype in neocortical pyramidal neurons.

Authors:  Roman U Goz; Gülcan Akgül; Joseph J LoTurco
Journal:  J Neurophysiol       Date:  2020-05-13       Impact factor: 2.714

3.  A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization.

Authors:  Rolf W Stottmann; Charles V Vorhees; Michael T Williams; Ashley Driver; Arnold Gutierrez; Matthew R Skelton; Michael Muntifering; Christopher Stepien; Luke Knudson; Matthew Kofron
Journal:  Genes Brain Behav       Date:  2016-10-03       Impact factor: 3.449

4.  KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.

Authors:  Wanxing Li; Tianling Cheng; Xinran Dong; Huiyao Chen; Lin Yang; Zilong Qiu; Wenhao Zhou
Journal:  Pediatr Res       Date:  2021-12-29       Impact factor: 3.953

5.  Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Authors:  Michael S Hildebrand; Nicole G Griffin; John A Damiano; Elisa J Cops; Rosemary Burgess; Ezgi Ozturk; Nigel C Jones; Richard J Leventer; Jeremy L Freeman; A Simon Harvey; Lynette G Sadleir; Ingrid E Scheffer; Heather Major; Benjamin W Darbro; Andrew S Allen; David B Goldstein; John F Kerrigan; Samuel F Berkovic; Erin L Heinzen
Journal:  Am J Hum Genet       Date:  2016-07-21       Impact factor: 11.025

Review 6.  Adapting for endocytosis: roles for endocytic sorting adaptors in directing neural development.

Authors:  Chan Choo Yap; Bettina Winckler
Journal:  Front Cell Neurosci       Date:  2015-04-08       Impact factor: 5.505

7.  Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.

Authors:  Yuki Matsushita; Yasunari Sakai; Mitsunori Shimmura; Hiroshi Shigeto; Miki Nishio; Satoshi Akamine; Masafumi Sanefuji; Yoshito Ishizaki; Hiroyuki Torisu; Yusaku Nakabeppu; Akira Suzuki; Hidetoshi Takada; Toshiro Hara
Journal:  Sci Rep       Date:  2016-03-10       Impact factor: 4.379

8.  Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.

Authors:  Guojian Wang; Xiaohong Li; Xue Gao; Yu Su; Mingyu Han; Bo Gao; Chang Guo; Dongyang Kang; Shasha Huang; Yongyi Yuan; Pu Dai
Journal:  Hum Genet       Date:  2021-06-17       Impact factor: 4.132

9.  Kinesin-1-mediated axonal transport of CB1 receptors is required for cannabinoid-dependent axonal growth and guidance.

Authors:  Trinidad M M Saez; Iván Fernandez Bessone; María S Rodriguez; Matías Alloatti; María G Otero; Lucas E Cromberg; Victorio M Pozo Devoto; Gonzalo Oubiña; Lucas Sosa; Mariano G Buffone; Diego M Gelman; Tomás L Falzone
Journal:  Development       Date:  2020-04-20       Impact factor: 6.862

Review 10.  Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

Authors:  Annalisa Mencarelli; Paolo Prontera; Gabriela Stangoni; Elisabetta Mencaroni; Nicola Principi; Susanna Esposito
Journal:  Int J Mol Sci       Date:  2017-10-29       Impact factor: 5.923
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