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J Uusimaa 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 Uusimaa Research Topics

Disease

1Lethal congenital contracture syndrome 1
01/2018
1Lethal Arthrogryposis With Anterior Horn Cell Disease
01/2018
1Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia)
01/2018
1Arthrogryposis
01/2018
1Motor Neuron Disease (Primary Lateral Sclerosis)
01/2018
1Cytochrome-c Oxidase Deficiency
10/2011
1Encephalitis (Encephalitis, Rasmussen)
03/2011
1Epilepsy (Aura)
03/2011
1Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
03/2011
1Ataxia Neuropathy Spectrum
03/2011
1Brain Diseases (Brain Disorder)
03/2011
1MELAS Syndrome (Syndrome, MELAS)
03/2000

Drug/Important Bio-Agent (IBA)

3Mitochondrial DNA (mtDNA)IBA
01/2018 - 03/2000
1RNA (Ribonucleic Acid)IBA
01/2018
1oligomycin sensitivity-conferring protein (complex V)IBA
01/2018
1Glu Transfer RNAIBA
10/2011
1DNA Polymerase gammaIBA
03/2011
1DNA (Deoxyribonucleic Acid)IBA
03/2011