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J S Moilanen 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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J S Moilanen Research Topics

Disease

1Lethal congenital contracture syndrome 1
01/2018
1Lethal Arthrogryposis With Anterior Horn Cell Disease
01/2018
1Arthrogryposis
01/2018
1Motor Neuron Disease (Primary Lateral Sclerosis)
01/2018
1VLCAD deficiency
03/2005
1Kearns-Sayre Syndrome
03/2005
1Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
03/2005
1MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
08/2003
1Myoclonic Epilepsies (Myoclonic Encephalopathy)
08/2003
1Hearing Loss (Hearing Impairment)
04/2001

Drug/Important Bio-Agent (IBA)

3Mitochondrial DNA (mtDNA)IBA
03/2005 - 04/2001
1RNA (Ribonucleic Acid)IBA
01/2018