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Martin Krahn Selected Research

Lethal congenital contracture syndrome 1

1/2020Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

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Martin Krahn Research Topics

Disease

11Dysferlinopathy
01/2021 - 08/2005
6Miyoshi myopathy
04/2019 - 08/2005
5Muscular Dystrophies (Muscular Dystrophy)
01/2021 - 08/2007
5Muscular Diseases (Myopathy)
01/2021 - 08/2007
5type 2B Limb-girdle muscular dystrophy
04/2019 - 08/2005
2Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
02/2021 - 02/2010
2Neuromuscular Diseases (Neuromuscular Disease)
12/2015 - 07/2008
2Protein Deficiency
02/2009 - 08/2007
1Fatty Acid Hydroxylase-Associated Neurodegeneration
01/2022
1Disease Progression
02/2021
1Camptocormia
01/2021
1Scleroatonic muscular dystrophy
01/2021
1Bethlem myopathy
01/2021
1Motor Neuron Disease (Primary Lateral Sclerosis)
01/2020
1Arthrogryposis
01/2020
1Lethal congenital contracture syndrome 1
01/2020
1Distal Myopathy with Anterior Tibial Onset
04/2019
1Wounds and Injuries (Trauma)
01/2018
1Hypertrophy
04/2016
1Inborn Genetic Diseases (Disease, Hereditary)
03/2016
1Neoplasms (Cancer)
11/2015
1Pancreatic Diseases (Pancreatic Disease)
11/2015
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
11/2014
1Congenital Structural Myopathies (Centronuclear Myopathy)
02/2013
1Myositis (Idiopathic Inflammatory Myopathies)
06/2006
1Eosinophilia
06/2006
1Parasitic Diseases (Parasitic Disease)
06/2006

Drug/Important Bio-Agent (IBA)

13DysferlinIBA
01/2021 - 08/2005
4Creatine Kinase (Creatine Phosphokinase)IBA
01/2021 - 06/2006
3Proteins (Proteins, Gene)FDA Link
01/2021 - 09/2010
2RNA (Ribonucleic Acid)IBA
01/2020 - 01/2018
2DNA (Deoxyribonucleic Acid)IBA
12/2015 - 11/2015
1Fatty Acids (Saturated Fatty Acids)IBA
01/2022
1Biomarkers (Surrogate Marker)IBA
02/2021
1Extracellular Matrix ProteinsIBA
01/2021
1CollagenIBA
01/2021
1Antisense OligonucleotidesIBA
01/2018
1GlycogenIBA
12/2017
1Caveolin 3IBA
04/2016
1Protons (Proton)IBA
03/2016
1bile salt-stimulated lipaseIBA
11/2015
1N-acylmannosamine kinaseIBA
06/2015
1EnzymesIBA
06/2015
1AcetylglucosamineIBA
06/2015
1Uridine Diphosphate (UDP)IBA
06/2015
1N-Acetylneuraminic Acid (Sialic Acid)IBA
06/2015
1Racemases and Epimerases (Epimerases and Racemases)IBA
06/2015
1N- (7- dimethylamino- 4- methylcoumarinyl)maleimide (DACM)IBA
11/2014
1CalciumIBA
02/2013
1Tryptophan (L-Tryptophan)FDA Link
06/2006

Therapy/Procedure

1Therapeutics
02/2010
1Ligation
08/2009