Heinz Jungbluth Selected Research

Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)

1/2022	Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH).
1/2022	Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing.
1/2022	RYR1-Related Rhabdomyolysis: A Spectrum of Hypermetabolic States Due to Ryanodine Receptor Dysfunction.
8/2021	The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol.
10/2020	Anaesthesia and neuromuscular disorders: what a neurologist needs to know.
1/2019	Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
1/2018	Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding.
1/2018	Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
1/2017	Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
10/2016	Congenital myopathies: not only a paediatric topic.

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Heinz Jungbluth Research Topics

Disease

36	Muscular Diseases (Myopathy) 01/2022 - 10/2002
17	Malignant Hyperthermia 01/2022 - 04/2006
14	Central Core Myopathy (Central Core Disease) 12/2011 - 06/2002
10	Minicore Myopathy with External Ophthalmoplegia 01/2019 - 06/2002
9	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2022 - 01/2007
7	Rhabdomyolysis 01/2022 - 10/2012
5	Myalgia 01/2018 - 10/2012
5	Nemaline Myopathies (Nemaline Myopathy) 08/2015 - 10/2002
4	Muscular Dystrophies (Muscular Dystrophy) 01/2016 - 10/2002
4	Ophthalmoplegia (External Ophthalmoplegia) 09/2011 - 01/2007
3	Infections 01/2022 - 10/2012
3	Hemorrhage 08/2021 - 01/2016
3	Cerebellar Ataxia (Dysmetria) 01/2019 - 12/2011
3	Paralysis (Palsy) 01/2018 - 03/2010
3	Distal Myopathies (Distal Muscular Dystrophy) 07/2014 - 02/2013
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 09/2022 - 07/2014
2	Myasthenia Gravis 09/2022 - 06/2011
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2022 - 01/2010
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2022 - 02/2016
2	Pain (Aches) 08/2021 - 01/2017
2	Disease Progression 11/2019 - 01/2017
2	Arthrogryposis 01/2018 - 02/2013
2	Absent corpus callosum cataract immunodeficiency 03/2016 - 02/2016
2	Cataract (Cataracts) 01/2016 - 01/2010
2	Cardiomyopathies (Cardiomyopathy) 01/2016 - 01/2016
2	Epidermolysa bullosa simplex and limb girdle muscular dystrophy 01/2016 - 11/2010
2	Muscle Weakness 08/2015 - 08/2007
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2022
1	Contracture 01/2022
1	X-Linked Myopathy with Excessive Autophagy 01/2022
1	Fever (Fevers) 01/2022
1	Gaucher Disease (Gaucher's Disease) 01/2022
1	Frontotemporal Dementia (Semantic Dementia) 01/2022
1	Heat Stroke (Heatstroke) 01/2022
1	Heat Stress Disorders (Heat Cramp) 01/2022
1	Warburg Sjo Fledelius syndrome 01/2022
1	Huntington Disease (Huntington's Disease) 01/2022
1	Wounds and Injuries (Trauma) 01/2022
1	Ciliopathies 01/2022
1	Autism Spectrum Disorder 01/2022
1	Alzheimer Disease (Alzheimer's Disease) 01/2022
1	Spastic Paraparesis 01/2022
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2022
1	Acute Abdomen 01/2022
1	Serotonin Syndrome (Syndrome, Serotonin) 01/2022
1	Ataxia (Dyssynergia) 01/2022
1	Brain Diseases (Brain Disorder) 01/2022
1	Genetic Predisposition to Disease (Genetic Predisposition) 01/2022
1	Niemann-Pick Diseases (Niemann Pick Disease) 01/2022
1	Chediak-Higashi Syndrome 01/2022
1	Muscle Cramp (Cramp) 01/2022

Drug/Important Bio-Agent (IBA)

34	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022 - 06/2002
13	Proteins (Proteins, Gene)FDA Link 01/2022 - 09/2006
6	Creatine Kinase (Creatine Phosphokinase)IBA 01/2022 - 10/2012
5	CalciumIBA 01/2019 - 08/2007
4	Dynamin IIIBA 01/2022 - 01/2007
4	EnzymesIBA 01/2021 - 01/2007
3	Anesthetics (Anesthetic Agents)IBA 01/2022 - 01/2016
3	Pharmaceutical PreparationsIBA 01/2022 - 02/2016
3	GlycogenIBA 01/2022 - 02/2016
3	myotubularinIBA 01/2022 - 01/2014
3	Calcium Channels (Calcium Channel)IBA 10/2020 - 06/2008
3	Selenoproteins (Selenoprotein)IBA 01/2019 - 10/2002
2	Rituximab (Mabthera)FDA Link 09/2022 - 06/2011
2	RyanodineIBA 01/2022 - 01/2016
2	Succinylcholine (Suxamethonium Chloride)FDA LinkGeneric 01/2022 - 01/2016
2	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2022 - 01/2017
2	Dantrolene (Dantrium)FDA LinkGeneric 01/2022 - 01/2016
2	LipidsIBA 01/2022 - 01/2017
2	ConnectinIBA 01/2021 - 01/2014
2	Crystallins (Crystallin)IBA 01/2016 - 01/2011
2	PlectinIBA 01/2016 - 11/2010
2	AntibodiesIBA 02/2015 - 06/2011
2	nebulinIBA 11/2013 - 10/2002
1	Ligases (Synthetase)IBA 09/2022
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2022
1	DipeptidesIBA 01/2022
1	Lysosomal Membrane ProteinsIBA 01/2022
1	phosphatidylinositol 3-phosphateIBA 01/2022
1	Glucosylceramidase (Glucocerebrosidase)IBA 01/2022
1	AMP-Activated Protein KinasesIBA 01/2022
1	trans-sodium crocetinate (crocetin)IBA 01/2022
1	Sorting NexinsIBA 01/2022
1	IronIBA 01/2022
1	Beclin-1IBA 01/2022
1	Valosin Containing ProteinIBA 01/2022
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2022
1	ProgranulinsIBA 01/2022
1	GTP Phosphohydrolases (GTPases)IBA 01/2022
1	Antidepressive Agents (Antidepressants)IBA 01/2022
1	Protein Subunits (Protein Subunit)IBA 01/2022
1	Sirolimus (Rapamycin)FDA Link 01/2022
1	Vacuolar Proton-Translocating ATPases (V-Type ATPase)IBA 01/2022
1	Illicit Drugs (Recreational Drugs)IBA 01/2022
1	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2022

Therapy/Procedure

8	Therapeutics 01/2022 - 06/2011
2	Anesthesia 01/2022 - 01/2019
2	Noninvasive Ventilation 01/2019 - 01/2015
1	Preoperative Exercise 01/2022
1	General Anesthesia 01/2022