Literature DB >> 27558371

Comment: Genotype-phenotype correlation with CRISPR-Cas9-: Bedside to bench.

W David Arnold1.   

Abstract

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Year:  2016        PMID： 27558371      PMCID： PMC5573221          DOI： 10.1212/WNL.0000000000003108

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


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  3 in total

1.  Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

Authors:  Moeenaldeen D Al-Sayed; Hamad Al-Zaidan; Albandary Albakheet; Hana Hakami; Rosan Kenana; Yusra Al-Yafee; Mazhor Al-Dosary; Alya Qari; Tarfa Al-Sheddi; Muhammed Al-Muheiza; Wafa Al-Qubbaj; Yamina Lakmache; Hindi Al-Hindi; Muhammad Ghaziuddin; Dilek Colak; Namik Kaya
Journal:  Am J Hum Genet       Date:  2013-09-26       Impact factor: 11.025

2.  Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.

Authors:  Çiğdem Köroğlu; Mehmet Seven; Aslihan Tolun
Journal:  J Med Genet       Date:  2013-06-07       Impact factor: 6.318

3.  NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Authors:  Eric G Bend; Yue Si; David A Stevenson; Pinar Bayrak-Toydemir; Tara M Newcomb; Erik M Jorgensen; Kathryn J Swoboda
Journal:  Neurology       Date:  2016-08-24       Impact factor: 9.910
  3 in total

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