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K Vuopala Selected Research

Lethal Arthrogryposis With Anterior Horn Cell Disease

1/2018A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

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K Vuopala Research Topics

Disease

1Lethal Arthrogryposis With Anterior Horn Cell Disease
01/2018
1Arthrogryposis
01/2018
1Motor Neuron Disease (Primary Lateral Sclerosis)
01/2018
1Lethal congenital contracture syndrome 1
01/2018
1Pulmonary Fibrosis (Fibrosing Alveolitis)
08/2011
1Lung Diseases (Lung Disease)
08/2011
1Pneumonia (Pneumonitis)
05/2000
1Septic Shock (Toxic Shock Syndrome)
05/2000
1Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
03/2000
1MELAS Syndrome (Syndrome, MELAS)
03/2000

Drug/Important Bio-Agent (IBA)

1RNA (Ribonucleic Acid)IBA
01/2018
1Proteins (Proteins, Gene)FDA Link
08/2011
1Surface-Active Agents (Surfactants)IBA
08/2011
1Interleukin-1beta (Interleukin 1 beta)IBA
05/2000
1Nitric Oxide (Nitrogen Monoxide)FDA Link
05/2000
1Pulmonary Surfactant-Associated Protein A (Surfactant Protein A)IBA
05/2000
1Nitric Oxide Synthase Type II (Inducible Nitric Oxide Synthase)IBA
05/2000
13-nitrotyrosineIBA
05/2000
1Phosphoric Monoester Hydrolases (Phosphatases)IBA
03/2000
1Tyrosine (L-Tyrosine)FDA Link
03/2000
1Mitochondrial DNA (mtDNA)IBA
03/2000