List of works - Katarina Pelin

A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy

scientific article published on September 2015

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

scientific article published on 15 January 2015

A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region

scientific article published on 13 November 2018

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

scientific article published on 22 July 2015

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

article

Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the <i>TTN</i> Segmental Duplication Region

scientific article published on 19 May 2022

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene.

scientific article published on 25 December 2017

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts

scientific article published in September 2004

Copy number variation analysis increases the diagnostic yield in muscle diseases

scientific article published on 11 December 2017

Core-rod myopathy caused by mutations in the nebulin gene

article

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

scientific article published on 24 July 2006

Differential isoform expression and selective muscle involvement in muscular dystrophies

scientific article published on 9 August 2015

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

scientific article published on 20 December 2018

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

scientific article published on 31 August 2012

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

article

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 24 September 2014

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

scientific article

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

scientific article (publication date: July 2014)

Mutation update: the spectra of nebulin variants and associated myopathies

scientific article

Mutation-specific effects on thin filament length in thin filament myopathy

scientific article published on 13 April 2016

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

scientific article

Nebulin is not expressed in plants ⬇️

scientific article published on June 28, 2012

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

article

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy ⬇️

scientific article published on June 20, 2011

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

scientific article published in Scientific Reports

Update on the Genetics of Congenital Myopathies

scientific article published on 17 January 2019

List of works by Katarina Pelin

A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy

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

A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region

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

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the <i>TTN</i> Segmental Duplication Region

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene.

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts

Copy number variation analysis increases the diagnostic yield in muscle diseases

Core-rod myopathy caused by mutations in the nebulin gene

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

Differential isoform expression and selective muscle involvement in muscular dystrophies

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

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

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

Mutation update: the spectra of nebulin variants and associated myopathies

Mutation-specific effects on thin filament length in thin filament myopathy

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

Nebulin is not expressed in plants ⬇️

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy ⬇️

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

Update on the Genetics of Congenital Myopathies