Janbernd Kirschner Selected Research

Laminin (Merosin)

8/2014	High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
1/2013	Congenital muscular dystrophies.

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Janbernd Kirschner Research Topics

Disease

27	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 05/2024 - 01/2017
11	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 08/2023 - 11/2010
10	Muscular Diseases (Myopathy) 10/2021 - 01/2005
6	Disease Progression 08/2023 - 01/2019
5	Muscular Dystrophies (Muscular Dystrophy) 03/2024 - 09/2008
5	Muscle Weakness 03/2024 - 01/2005
4	Scleroatonic muscular dystrophy 03/2024 - 01/2005
3	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 03/2024 - 02/2004
3	Scoliosis 02/2024 - 05/2012
3	Cardiomyopathies (Cardiomyopathy) 10/2019 - 09/2010
3	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2018 - 01/2008
2	Contracture 03/2024 - 01/2005
2	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 11/2023 - 03/2013
2	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2022 - 03/2013
2	Ataxia (Dyssynergia) 09/2022 - 02/2012
2	Vomiting 01/2022 - 01/2017
2	Fever (Fevers) 01/2022 - 01/2017
2	Rhabdomyolysis 10/2021 - 01/2020
2	Neuromuscular Diseases (Neuromuscular Disease) 01/2020 - 03/2014
2	Brain Diseases (Brain Disorder) 01/2020 - 01/2010
2	Lactic Acidosis 01/2020 - 02/2012
2	Cough 01/2019 - 01/2017
2	Mitochondrial Diseases (Mitochondrial Disease) 06/2015 - 01/2010
2	Hypertrophy 01/2014 - 12/2007
2	Proteostasis Deficiencies 03/2013 - 01/2013
2	Myofibrillar Myopathy 01/2013 - 12/2007
2	Cardiotoxicity 12/2010 - 09/2010
1	Respiratory Insufficiency (Respiratory Failure) 03/2024
1	Motor Neuron Disease (Primary Lateral Sclerosis) 11/2023
1	Hereditary Sensory and Autonomic Neuropathies (HSAN) 11/2023
1	Body Weight (Weight, Body) 04/2023
1	Arthralgia (Joint Pain) 01/2022
1	Respiratory Tract Infections (Respiratory Tract Infection) 01/2022
1	Aphthous Stomatitis (Aphthous Ulcer) 01/2022
1	Urinary Tract Infections (Urinary Tract Infection) 01/2022
1	Exanthema (Rash) 01/2022
1	Failure to Thrive 01/2022
1	Diarrhea 01/2022
1	Pneumonia (Pneumonitis) 01/2022
1	Myalgia 10/2021
1	Infections 07/2021
1	Coma (Comas) 07/2021
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 12/2020
1	Retinal Dystrophies 12/2020
1	Severe combined immunodeficiency due to adenosine deaminase deficiency 12/2020
1	Thalassemia 12/2020
1	2-Hydroxyglutaricaciduria 01/2020
1	Cognitive Dysfunction 01/2020
1	Hypoglycemia (Reactive Hypoglycemia) 01/2020
1	Critical Illness (Critically Ill) 12/2019
1	Potassium aggravated myotonia 11/2019
1	Left Ventricular Dysfunction 10/2019

Drug/Important Bio-Agent (IBA)

14	nusinersenIBA 04/2024 - 11/2017
12	Proteins (Proteins, Gene)FDA Link 04/2023 - 02/2004
7	RisdiplamIBA 05/2024 - 01/2022
7	Mitochondrial DNA (mtDNA)IBA 01/2014 - 01/2007
5	Nonsense Codon (Nonsense Mutation)IBA 08/2023 - 02/2012
5	Zidovudine (Retrovir)FDA LinkGeneric 01/2014 - 01/2008
4	atalurenIBA 08/2023 - 01/2017
4	NucleosidesIBA 10/2012 - 01/2008
4	Zalcitabine (Hivid)FDA Link 12/2010 - 01/2007
4	UridineIBA 12/2010 - 01/2007
3	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2022 - 05/2012
3	SteroidsIBA 09/2018 - 11/2010
3	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2018 - 01/2010
3	EnzymesIBA 01/2018 - 12/2007
3	FilaminsIBA 01/2013 - 12/2007
3	Reverse Transcriptase InhibitorsIBA 10/2012 - 01/2008
2	CollagenIBA 03/2024 - 01/2005
2	ZolgensmaIBA 01/2024 - 01/2021
2	Antisense OligonucleotidesIBA 01/2023 - 01/2021
2	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2019
2	Prednisone (Sone)FDA LinkGeneric 01/2022 - 11/2010
2	Creatine Kinase (Creatine Phosphokinase)IBA 10/2021 - 08/2014
2	olesoximeIBA 12/2020 - 01/2017
2	salicylhydroxamic acid (SHAM)IBA 01/2018 - 11/2017
2	Laminin (Merosin)IBA 08/2014 - 01/2013
2	pyrimidineIBA 12/2010 - 01/2008
2	Lamin Type A (Lamin A)IBA 01/2005 - 02/2004
1	Serine C-PalmitoyltransferaseIBA 11/2023
1	Serine (L-Serine)FDA Link 11/2023
1	SphingolipidsIBA 11/2023
1	RNA Precursors (Precursor, mRNA)IBA 05/2023
1	DystrophinIBA 01/2023
1	Troponin IIBA 01/2023
1	RNA (Ribonucleic Acid)IBA 09/2022
1	GlycogenIBA 01/2022
1	Cathepsin DIBA 01/2022
1	deflazacortIBA 01/2022
1	Adrenocorticotropic Hormone (ACTH)FDA Link 07/2021
1	Anesthetics (Anesthetic Agents)IBA 07/2021
1	citrate-binding transport proteinIBA 01/2020
1	Sodium Channels (Sodium Channel)IBA 11/2019
1	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 10/2019
1	Metoprolol (Toprol-XL)FDA LinkGeneric 10/2019

Therapy/Procedure

9	Therapeutics 10/2023 - 04/2006
1	Noninvasive Ventilation 02/2024
1	Enteral Nutrition (Feeding, Tube) 02/2024
1	Palliative Care (Palliative Therapy) 12/2020
1	Mechanical Ventilators (Ventilator) 12/2019