Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
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Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the NervesAmyloid Precursor Protein (APP) May Act as a Substrate and a Recognition Unit for CRL4CRBN and Stub1 E3 Ligases Facilitating Ubiquitination of Proteins Involved in Presynaptic Functions and NeurodegenerationGenomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas.Muscle-restricted nuclear receptor interaction protein knockout causes motor neuron degeneration through down-regulation of myogenin at the neuromuscular junction.
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Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 05 February 2014
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vedecký článok
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vetenskaplig artikel
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Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
@en
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
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Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
@en
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
@nl
prefLabel
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
@en
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
@nl
P2093
P2860
P1433
P1476
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
@en
P2093
Carsten Bönnemann
Christopher J Klein
Elizabeth J Atkinson
Georges Mer
Hans H Goebel
Kristen Zukosky
Maria-Victoria Botuyan
Peter J Dyck
Peter Vogel
Sumit Middha
P2860
P304
P356
10.1212/WNL.0000000000000206
P407
P577
2014-02-05T00:00:00Z