Katarina Pelin Selected Research

Nemaline Myopathies (Nemaline Myopathy)

1/2022	A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region.
1/2020	Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
10/2018	Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation.
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.
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.
8/2011	Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

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Katarina Pelin Research Topics

Disease

21	Nemaline Myopathies (Nemaline Myopathy) 01/2022 - 02/2002
6	Muscular Diseases (Myopathy) 01/2022 - 11/2014
4	Distal Myopathies (Distal Muscular Dystrophy) 01/2021 - 06/2007
2	Muscle Weakness 01/2021 - 06/2007
2	Disease Progression 01/2020 - 04/2014
2	Cap Myopathy 07/2014 - 06/2007
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 12/2017
1	Muscular Dystrophies (Muscular Dystrophy) 10/2015
1	Multiple pterygium syndrome 07/2014
1	Congenital Structural Myopathies (Centronuclear Myopathy) 07/2014
1	Arthrogryposis 07/2014
1	Respiratory Insufficiency (Respiratory Failure) 06/2007
1	Facies 06/2007

Drug/Important Bio-Agent (IBA)

18	nebulinIBA 01/2022 - 10/2002
4	TropomyosinIBA 01/2018 - 02/2002
4	Actins (F Actin)IBA 01/2018 - 02/2002
4	Proteins (Proteins, Gene)FDA Link 01/2016 - 09/2004
2	Protein Isoforms (Isoforms)IBA 10/2015 - 07/2014
1	Nonsense Codon (Nonsense Mutation)IBA 01/2020
1	ConnectinIBA 12/2017
1	DystrophinIBA 12/2017
1	Troponin T (Troponin T1)IBA 02/2002

Therapy/Procedure

1	Therapeutics 01/2020