Vilma-Lotta Lehtokari Selected Research

Nemaline Myopathies (Nemaline Myopathy)

1/2022	A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.
1/2018	An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.
1/2018	Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene.
4/2016	A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
10/2015	Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.
11/2014	Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
7/2014	Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
4/2014	Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
8/2013	Mutations in the nebulin gene in a child with nemaline (rod) myopathy.
2/2013	K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

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Vilma-Lotta Lehtokari Research Topics

Disease

18	Nemaline Myopathies (Nemaline Myopathy) 01/2022 - 09/2004
10	Muscular Diseases (Myopathy) 01/2022 - 01/2007
3	Muscle Weakness 01/2021 - 06/2007
3	Distal Myopathies (Distal Muscular Dystrophy) 01/2021 - 06/2007
3	Cap Myopathy 01/2019 - 06/2007
2	Arthrogryposis 07/2014 - 02/2013
1	Peroneal Neuropathies 10/2015
1	Congenital Structural Myopathies (Centronuclear Myopathy) 07/2014
1	Multiple pterygium syndrome 07/2014
1	Disease Progression 04/2014
1	Contracture 02/2013
1	Respiratory Insufficiency (Respiratory Failure) 06/2007
1	Facies 06/2007

Drug/Important Bio-Agent (IBA)

17	nebulinIBA 01/2022 - 09/2004
5	Proteins (Proteins, Gene)FDA Link 01/2019 - 09/2004
4	TropomyosinIBA 01/2018 - 06/2007
1	Actins (F Actin)IBA 01/2018
1	Protein Isoforms (Isoforms)IBA 07/2014
1	CalciumIBA 02/2013
1	Myosins (Myosin)IBA 06/2011
1	Microfilament Proteins (Actin Binding Proteins)IBA 01/2007
1	Cofilin 2IBA 01/2007