Literature DB >> 22812903

The neuropathological consequences of CDKL5 mutation.

S M L Paine, P Munot, J Carmichael, K Das, M A Weber, P Prabhakar, T S Jacques.   

Abstract

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Year:  2012        PMID： 22812903     DOI： 10.1111/j.1365-2990.2012.01292.x

Source DB:  PubMed          Journal:  Neuropathol Appl Neurobiol        ISSN： 0305-1846            Impact factor:   8.090


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  4 in total

Review 1.  Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Authors:  Heather E Olson; Scott T Demarest; Elia M Pestana-Knight; Lindsay C Swanson; Sumaiya Iqbal; Dennis Lal; Helen Leonard; J Helen Cross; Orrin Devinsky; Tim A Benke
Journal:  Pediatr Neurol       Date:  2019-02-23       Impact factor: 3.372

Review 2.  CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.

Authors:  William Hong; Isabel Haviland; Elia Pestana-Knight; Judith L Weisenberg; Scott Demarest; Eric D Marsh; Heather E Olson
Journal:  CNS Drugs       Date:  2022-05-28       Impact factor: 6.497

3.  Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder.

Authors:  Yingying Tang; Zhong Irene Wang; Shaheera Sarwar; Joon Yul Choi; Shan Wang; Xiaoming Zhang; Sumit Parikh; Ahsan N Moosa; Elia Pestana-Knight
Journal:  Eur J Paediatr Neurol       Date:  2021-02-15       Impact factor: 3.140

4.  Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice.

Authors:  Raffaele Mazziotti; Leonardo Lupori; Giulia Sagona; Mariangela Gennaro; Grazia Della Sala; Elena Putignano; Tommaso Pizzorusso
Journal:  Hum Mol Genet       Date:  2017-06-15       Impact factor: 6.150
  4 in total

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