List of works - Vilma-Lotta Lehtokari

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

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

scientific article

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2

scientific article

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

scientific article published in January 2012

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

Core-rod myopathy caused by mutations in the nebulin gene

article

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.

scientific article published on 24 February 2011

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

scientific article published on 20 December 2018

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

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

scientific article

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

scientific article published on 24 September 2014

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

scientific article published on 02 January 2015

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

scientific article published on 22 April 2018

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

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

scientific article published on 06 June 2013

Mutations in the nebulin gene in a child with nemaline (rod) myopathy.

scientific article published on 2 September 2012

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

article

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

scientific 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

Other specified and unspecified feeding or eating disorders among women in the community

scientific article

[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected]

scientific article published on 01 January 2009

List of works by Vilma-Lotta Lehtokari

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

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy

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

Core-rod myopathy caused by mutations in the nebulin gene

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.

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

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

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

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

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

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis

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

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

Mutations in the nebulin gene in a child with nemaline (rod) myopathy.

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

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

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

Other specified and unspecified feeding or eating disorders among women in the community

[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected]