Condition: Myopathies, Nemaline


rs1559168230 in NEB gene and Myopathies, Nemaline PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 25110572 2014 Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.

PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 26197980 2016 A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 26841830 2016 New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

PMID 19232495 2009 The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.

rs1257495033 in NEB;RIF1 gene and Myopathies, Nemaline PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 26019235 2015 Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 26809617 2016 Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

PMID 15336686 2004 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

rs555445835 in RIF1;NEB gene and Myopathies, Nemaline PMID 24056153 2015 Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.

PMID 12207938 2002 Nebulin mutations in autosomal recessive nemaline myopathy: an update.

PMID 15336686 2004 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.