Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
about
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceExpression, purification, crystallization and preliminary X-ray diffraction analysis of the C-terminal NHL domain of human TRIM2Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.Shared Genetic Etiology of Autoimmune Diseases in Patients from a Biorepository Linked to De-identified Electronic Health Records.S-nitrosation and ubiquitin-proteasome system interplay in neuromuscular disorders.Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.Neurofilament dynamics and involvement in neurological disorders.Expression Profiling of Clinical Specimens Supports the Existence of Neural Progenitor-Like Stem Cells in Basal Breast Cancers.TRIM proteins and diseases.MicroRNA-181c Ameliorates Cognitive Impairment Induced by Chronic Cerebral Hypoperfusion in Rats.Systems genetic analysis of brown adipose tissue function.MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.The Role of microRNAs in Alzheimer's Disease and Their Therapeutic Potentials.A Novel Mutation in Brain Tumor Causes Both Neural Over-Proliferation and Neurodegeneration in Adult
P2860
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P2860
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-my
2013年学术文章
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2013年學術文章
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2013年學術文章
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name
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
@en
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
@nl
type
label
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
@en
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
@nl
prefLabel
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
@en
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
@nl
P2093
P50
P356
P1476
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
@en
P2093
Albena Jordanova
Anders Paetau
Els De Vriendt
Rosanna Pöyhönen
Tuula Lönnqvist
P304
P356
10.1093/HMG/DDT149
P577
2013-04-04T00:00:00Z