Literature DB >> 25589043

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.

Katarina Pelin1, Kirsi Kiiski2, Vilma-Lotta Lehtokari2, Carina Wallgren-Pettersson2.   

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Year:  2015        PMID： 25589043     DOI： 10.1038/jhg.2014.120

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


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  9 in total

1.  Evolutionary balancing is critical for correctly forecasting disease-associated amino acid variants.

Authors:  Li Liu; Sudhir Kumar
Journal:  Mol Biol Evol       Date:  2013-03-05       Impact factor: 16.240

2.  Evolutionary diagnosis method for variants in personal exomes.

Authors:  Sudhir Kumar; Maxwell Sanderford; Vanessa E Gray; Jieping Ye; Li Liu
Journal:  Nat Methods       Date:  2012-09       Impact factor: 28.547

3.  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

4.  Nebulin--a giant chameleon.

Authors:  Katarina Pelin; Carina Wallgren-Pettersson
Journal:  Adv Exp Med Biol       Date:  2008       Impact factor: 2.622

5.  The complete primary structure of human nebulin and its correlation to muscle structure.

Authors:  S Labeit; B Kolmerer
Journal:  J Mol Biol       Date:  1995-04-28       Impact factor: 5.469

6.  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

7.  Distal myopathy caused by homozygous missense mutations in the nebulin gene.

Authors:  Carina Wallgren-Pettersson; Vilma-Lotta Lehtokari; Hannu Kalimo; Anders Paetau; Elina Nuutinen; Peter Hackman; Caroline Sewry; Katarina Pelin; Bjarne Udd
Journal:  Brain       Date:  2007-06       Impact factor: 13.501

8.  Expression of multiple nebulin isoforms in human skeletal muscle and brain.

Authors:  Jenni Laitila; Mubashir Hanif; Anders Paetau; Sari Hujanen; Joni Keto; Panu Somervuo; Sanna Huovinen; Bjarne Udd; Carina Wallgren-Pettersson; Petri Auvinen; Peter Hackman; Katarina Pelin
Journal:  Muscle Nerve       Date:  2012-08-31       Impact factor: 3.217

9.  Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.

Authors:  Minttu Marttila; Mubashir Hanif; Elina Lemola; Kristen J Nowak; Jenni Laitila; Mikaela Grönholm; Carina Wallgren-Pettersson; Katarina Pelin
Journal:  Skelet Muscle       Date:  2014-08-01       Impact factor: 4.912
  9 in total
  1 in total

1.  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.

Authors:  Shin-Young Yim; Seon-Yong Jeong
Journal:  J Hum Genet       Date:  2015-01-15       Impact factor: 3.172
  1 in total

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