Sebahattin Cirak Selected Research

nebulin

6/2018	Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.
11/2013	Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

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Sebahattin Cirak Research Topics

Disease

10	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2020 - 10/2009
7	Muscular Diseases (Myopathy) 01/2021 - 02/2012
7	Muscular Dystrophies (Muscular Dystrophy) 01/2016 - 07/2010
3	Ataxia (Dyssynergia) 12/2021 - 01/2018
3	Disease Progression 01/2019 - 01/2013
2	Sulfite oxidase deficiency 01/2022 - 01/2019
2	Brain Diseases (Brain Disorder) 02/2021 - 12/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 04/2016
2	Intellectual Disability (Idiocy) 11/2020 - 01/2016
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 11/2020 - 02/2015
2	Dystonia (Limb Dystonia) 10/2019 - 08/2019
2	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2019 - 09/2017
2	Nemaline Myopathies (Nemaline Myopathy) 06/2018 - 11/2013
2	Inflammation (Inflammations) 10/2017 - 06/2007
2	Mitochondrial Diseases (Mitochondrial Disease) 12/2016 - 12/2013
2	Scleroatonic muscular dystrophy 04/2016 - 01/2013
2	Muscle Hypotonia (Hypotonia) 01/2016 - 02/2012
2	Rare Diseases (Rare Disease) 10/2015 - 07/2014
2	Cytochrome-c Oxidase Deficiency 12/2013 - 06/2013
2	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 07/2013 - 12/2010
2	Walker-Warburg Syndrome 01/2013 - 05/2012
1	Motor Neuron Disease (Primary Lateral Sclerosis) 01/2021
1	Juvenile Amyotrophic Lateral Sclerosis 2 01/2021
1	Donohue Syndrome 01/2021
1	Cicatrix (Scar) 01/2020
1	Neuromuscular Diseases (Neuromuscular Disease) 01/2020
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2020
1	Seizures (Absence Seizure) 12/2019
1	Hyperekplexia 12/2019
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 09/2019
1	Multiple Hereditary Exostoses (Hereditary Multiple Exostoses) 09/2019
1	Exostoses 09/2019
1	Type 4B1 Charcot-Marie-Tooth disease 01/2019
1	Cognitive Dysfunction 01/2019
1	Hypokinesia (Bradykinesia) 01/2019
1	Tachycardia (Tachyarrhythmias) 01/2019
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 06/2018
1	Nephrotic Syndrome (Syndrome, Nephrotic) 06/2018
1	Protein-Losing Enteropathies (Protein-Losing Enteropathy) 01/2018
1	Lymphatic Abnormalities 01/2018
1	Hyperkinesis 01/2018
1	Pain (Aches) 01/2018
1	of childhood progressive pseudorheumatoid Arthropathy 01/2018
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 11/2017
1	Hypoglycemia (Reactive Hypoglycemia) 12/2016
1	Pyruvate Dehydrogenase Complex Deficiency Disease 12/2016

Drug/Important Bio-Agent (IBA)

12	Proteins (Proteins, Gene)FDA Link 01/2021 - 07/2010
9	DystrophinIBA 01/2020 - 10/2009
7	Dystroglycans (Dystroglycan)IBA 07/2013 - 12/2010
4	MorpholinosIBA 10/2017 - 10/2009
4	Biomarkers (Surrogate Marker)IBA 10/2015 - 01/2013
4	EnzymesIBA 09/2015 - 03/2006
4	eteplirsenIBA 10/2012 - 10/2009
3	ADP-ribosylarginine hydrolaseIBA 12/2021 - 01/2018
3	GlycosyltransferasesIBA 09/2019 - 12/2010
3	Racemases and Epimerases (Epimerases and Racemases)IBA 09/2015 - 03/2006
3	AcetylglucosamineIBA 09/2015 - 03/2006
3	Uridine Diphosphate (UDP)IBA 09/2015 - 03/2006
2	Sulfite OxidaseIBA 01/2022 - 01/2019
2	Oxidoreductases (Dehydrogenase)IBA 01/2021 - 12/2016
2	Cytoplasmic DyneinsIBA 11/2020 - 02/2015
2	Trihexyphenidyl (Artane)FDA LinkGeneric 10/2019 - 08/2019
2	Immunoglobulin D (IgD)IBA 10/2019 - 08/2019
2	nebulinIBA 06/2018 - 11/2013
2	CollagenIBA 04/2016 - 01/2013
2	Phosphotransferases (Kinase)IBA 09/2015 - 03/2006
2	N-Acetylneuraminic Acid (Sialic Acid)IBA 09/2015 - 03/2006
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 12/2013 - 06/2013
2	N-acylmannosamine kinaseIBA 06/2007 - 03/2006
1	molybdopterin (molybdenum cofactor)IBA 01/2022
1	InterferonsIBA 02/2021
1	pyridineIBA 01/2021
1	Insulin ReceptorIBA 01/2021
1	ConnectinIBA 01/2021
1	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 01/2021
1	NucleotidesIBA 01/2021
1	DisulfidesIBA 01/2021
1	ChromatinIBA 01/2020
1	Adenosine Diphosphate Ribose (ADP-Ribose)IBA 01/2020
1	DNA (Deoxyribonucleic Acid)IBA 01/2020
1	Histones (Histone)IBA 01/2020
1	HydrolasesIBA 01/2020
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2020
1	Myosins (Myosin)IBA 12/2019
1	Lamin Type A (Lamin A)IBA 09/2019
1	Aspartate-Ammonia Ligase (Asparagine Synthetase)IBA 01/2019
1	SaltsIBA 01/2019
1	myotubularinIBA 01/2019
1	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2019
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2019
1	AsparagineIBA 01/2019
1	sphingosine 1-phosphate lyase (aldolase)IBA 06/2018
1	Tuberculin (PPD)IBA 01/2018
1	choline transporterIBA 11/2017
1	Antisense OligonucleotidesIBA 10/2017
1	Phosphoinositide PhosphatasesIBA 09/2017

Therapy/Procedure

5	Therapeutics 12/2019 - 02/2012
3	Drug Therapy (Chemotherapy) 12/2019 - 08/2019
1	Heart Transplantation (Grafting, Heart) 09/2019
1	Deep Brain Stimulation 01/2018