Peter Hackman Selected Research

Connectin

1/2020	Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
3/2019	Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
1/2018	Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
12/2017	Copy number variation analysis increases the diagnostic yield in muscle diseases.
11/2017	A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
3/2014	Hereditary myopathy with early respiratory failure: occurrence in various populations.
2/2014	Atypical phenotypes in titinopathies explained by second titin mutations.
1/2014	Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.
6/2012	Titin mutation segregates with hereditary myopathy with early respiratory failure.
9/2010	Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.

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Peter Hackman Research Topics

Disease

16	Distal Myopathies (Distal Muscular Dystrophy) 08/2022 - 09/2002
9	Muscular Diseases (Myopathy) 01/2021 - 08/2011
3	Hereditary Myopathy with Early Respiratory Failure 03/2019 - 06/2012
3	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 11/2017 - 09/2010
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 01/2018
2	Muscular Dystrophies (Muscular Dystrophy) 01/2018 - 10/2015
2	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 12/2017 - 09/2010
2	Type 2J Limb-Girdle Muscular Dystrophy 02/2014 - 09/2010
2	Myofibrillar Myopathy 02/2012 - 06/2011
1	Inclusion Body Myositis 08/2022
1	Muscle Weakness 01/2021
1	Hyperlipidemias (Hyperlipidemia) 08/2014
1	Myotonic Dystrophy (Dystrophia Myotonica) 08/2014
1	Anosmia 05/2014
1	Hypogonadism (Hypergonadotropic Hypogonadism) 05/2014
1	Delayed Puberty 05/2014
1	Kallmann Syndrome (Kallmann's Syndrome) 05/2014
1	Type 1D Limb-Girdle Muscular Dystrophy 02/2012
1	Frontotemporal Dementia (Semantic Dementia) 08/2011
1	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 08/2011
1	Pathological Protein Aggregation 06/2011
1	Cardiomyopathies (Cardiomyopathy) 09/2010
1	Limb-girdle muscular dystrophy type 2A 09/2010
1	Nemaline Myopathies (Nemaline Myopathy) 06/2007
1	Ataxia (Dyssynergia) 09/2005
1	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2005

Drug/Important Bio-Agent (IBA)

14	ConnectinIBA 01/2020 - 09/2002
6	Proteins (Proteins, Gene)FDA Link 01/2021 - 09/2002
4	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 03/2014
2	nebulinIBA 01/2021 - 06/2007
2	Protein Isoforms (Isoforms)IBA 10/2015 - 02/2012
1	CalciumIBA 08/2022
1	RNA (Ribonucleic Acid)IBA 08/2022
1	Muscle Proteins (Muscle Protein)IBA 01/2021
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 12/2020
1	Complementary RNA (cRNA)IBA 01/2020
1	DystrophinIBA 12/2017
1	NucleotidesIBA 01/2017
1	Untranslated Regions (Untranslated Region)IBA 01/2016
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 08/2014
1	UbiquitinIBA 08/2014
1	Ligases (Synthetase)IBA 08/2014
1	Semaphorin-3AIBA 05/2014
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 05/2014
1	Messenger RNA (mRNA)IBA 02/2014
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 04/2013
1	Valosin Containing ProteinIBA 08/2011
1	FilaminsIBA 06/2011
1	Cyclic AMP-Dependent Protein Kinases (cAMP-Dependent Protein Kinase)IBA 09/2010
1	Peptide Hydrolases (Proteases)FDA Link 09/2010
1	CalpainIBA 09/2010
1	Amino Acids FDA Link 09/2005
1	DNA Polymerase gammaIBA 09/2005

Therapy/Procedure

2	Therapeutics 04/2015 - 08/2014