Carina Wallgren-Pettersson Selected Research

Tropomyosin

12/2023	Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
1/2023	Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
1/2018	An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders.
7/2014	Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
2/2013	K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
1/2009	[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].
6/2007	Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.
2/2002	Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

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Carina Wallgren-Pettersson Research Topics

Disease

33	Nemaline Myopathies (Nemaline Myopathy) 01/2024 - 02/2002
14	Muscular Diseases (Myopathy) 01/2024 - 09/2003
5	Distal Myopathies (Distal Muscular Dystrophy) 01/2024 - 06/2007
5	Congenital Structural Myopathies (Centronuclear Myopathy) 07/2014 - 09/2007
4	Muscle Weakness 01/2021 - 06/2007
3	Cap Myopathy 01/2019 - 06/2007
2	Disease Progression 01/2020 - 04/2014
2	Arthrogryposis 07/2014 - 02/2013
2	Neoplasms (Cancer) 02/2011 - 05/2009
1	Muscle Hypotonia (Hypotonia) 12/2023
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 11/2018
1	Seizures (Absence Seizure) 11/2018
1	Cognitive Dysfunction 01/2018
1	Nervous System Diseases (Neurological Disorders) 01/2018
1	Epilepsy (Aura) 01/2018
1	Type 1 Episodic Ataxia 01/2018
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018
1	Peroneal Neuropathies 10/2015
1	Multiple pterygium syndrome 07/2014
1	Contracture 02/2013
1	Facies 06/2007
1	Respiratory Insufficiency (Respiratory Failure) 06/2007
1	Intranuclear Rod Myopathy 09/2003

Drug/Important Bio-Agent (IBA)

25	nebulinIBA 01/2022 - 10/2002
8	TropomyosinIBA 12/2023 - 02/2002
6	Proteins (Proteins, Gene)FDA Link 01/2019 - 09/2004
5	Actins (F Actin)IBA 01/2018 - 02/2002
3	Dynamin IIIBA 06/2012 - 09/2007
2	Myosins (Myosin)IBA 12/2022 - 06/2011
2	Creatine Kinase (Creatine Phosphokinase)IBA 01/2018 - 01/2018
2	Protein Isoforms (Isoforms)IBA 07/2014 - 02/2011
2	amphiphysinIBA 02/2011 - 09/2007
1	NucleotidesIBA 01/2024
1	Amino Acids FDA Link 11/2023
1	RNA (Ribonucleic Acid)IBA 01/2023
1	ProteomeIBA 12/2022
1	Nonsense Codon (Nonsense Mutation)IBA 01/2020
1	Coloring Agents (Dyes)IBA 01/2019
1	TransferrinsIBA 11/2018
1	Adrenocorticotropic Hormone (ACTH)FDA Link 11/2018
1	prolylvalineIBA 01/2018
1	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2018
1	CalciumIBA 02/2013
1	GTP Phosphohydrolases (GTPases)IBA 06/2012
1	myotubularinIBA 09/2007
1	Phosphoinositide PhosphatasesIBA 09/2007
1	Cofilin 2IBA 01/2007
1	Microfilament Proteins (Actin Binding Proteins)IBA 01/2007
1	Troponin T (Troponin T1)IBA 02/2002

Therapy/Procedure

2	Therapeutics 01/2020 - 11/2018