Literature DB >> 25589042

A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Shin-Young Yim1, Seon-Yong Jeong2.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 25589042     DOI： 10.1038/jhg.2014.119

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


× No keyword cloud information.
  10 in total

1.  SnapShot: actin regulators II.

Authors:  Anosha D Siripala; Matthew D Welch
Journal:  Cell       Date:  2007-03-09       Impact factor: 41.582

2.  SnapShot: actin regulators I.

Authors:  Anosha D Siripala; Matthew D Welch
Journal:  Cell       Date:  2007-02-09       Impact factor: 41.582

Review 3.  Microtubule assembly, organization and dynamics in axons and dendrites.

Authors:  Cecilia Conde; Alfredo Cáceres
Journal:  Nat Rev Neurosci       Date:  2009-05       Impact factor: 34.870

4.  A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Authors:  Katarina Pelin; Kirsi Kiiski; Vilma-Lotta Lehtokari; Carina Wallgren-Pettersson
Journal:  J Hum Genet       Date:  2015-01-15       Impact factor: 3.172

5.  SnapShot: receptor dynamics at plastic synapses.

Authors:  Matthias Kneussel; Antoine Triller; Daniel Choquet
Journal:  Cell       Date:  2014-06-19       Impact factor: 41.582

6.  Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Authors:  Hyun-Seok Jin; Jong-Bin Lee; Kyung Kim; Ki-Young Lee; Vit-Na Choi; Jong-Soo Kim; Seon-Yong Jeong; Shin-Young Yim
Journal:  J Hum Genet       Date:  2014-10-09       Impact factor: 3.172

7.  Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128.

Authors:  Kati Donner; Kristen J Nowak; Mimmi Aro; Katarina Pelin; Carina Wallgren-Pettersson
Journal:  Genomics       Date:  2006-07-24       Impact factor: 5.736

Review 8.  Molecular motors and synaptic assembly.

Authors:  Qian Cai; Zu-Hang Sheng
Journal:  Neuroscientist       Date:  2009-02       Impact factor: 7.519

Review 9.  Actin in dendritic spines: connecting dynamics to function.

Authors:  Pirta Hotulainen; Casper C Hoogenraad
Journal:  J Cell Biol       Date:  2010-05-10       Impact factor: 10.539

10.  Mutation update: the spectra of nebulin variants and associated myopathies.

Authors:  Vilma-Lotta Lehtokari; Kirsi Kiiski; Sarah A Sandaradura; Jocelyn Laporte; Pauliina Repo; Jennifer A Frey; Kati Donner; Minttu Marttila; Carol Saunders; Peter G Barth; Johan T den Dunnen; Alan H Beggs; Nigel F Clarke; Kathryn N North; Nigel G Laing; Norma B Romero; Thomas L Winder; Katarina Pelin; Carina Wallgren-Pettersson
Journal:  Hum Mutat       Date:  2014-12       Impact factor: 4.878
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.