Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
about
Current trends in oxysterol researchDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyAmplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.Cholestenoic acids regulate motor neuron survival via liver X receptors.KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsHereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.Somatosensory conduction pathway in spastic paraplegia type 5.CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.Defective CYP7B1 does not 7-hydroxylate 25OH-CHOLGenome-wide association study for risk taking propensity indicates shared pathways with body mass index
P2860
Q26749224-909496B5-82DA-4DC5-90C5-3713B1AA238DQ28081453-1D736471-9EC0-4954-A46D-CCFA90683D81Q33915530-2706E6AE-3FE3-4646-8208-A3E32F0EB948Q35140077-D87D2CC0-5AC9-47DE-9E16-16A2C17E6E38Q35969072-CFAE8D51-D433-41C1-BD5A-8EE3D9A73339Q36398037-2EC7AEA6-16E6-40CD-9491-674F676DD039Q38857876-4648D00B-DFB8-4919-BFC1-E66F52B63916Q39408122-B5D92EAF-7AC3-4872-BA1F-AD76A0FCDB3EQ41942827-C5381121-A46C-422C-915D-EE8E215A45C8Q44462451-E7D86F28-02E6-45FE-9FD5-8038F9BE6FEFQ47416181-59116FF2-2741-427E-9690-314FB747BC18Q50289160-6524BBD5-5BDC-431A-824F-06A8CD299C3BQ57145507-5F89A218-6F6A-43D9-AA9B-8924EAA0CE76
P2860
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Clinical phenotype variability ...... ociated with CYP7B1 mutations.
@en
Clinical phenotype variability ...... ociated with CYP7B1 mutations.
@nl
type
label
Clinical phenotype variability ...... ociated with CYP7B1 mutations.
@en
Clinical phenotype variability ...... ociated with CYP7B1 mutations.
@nl
prefLabel
Clinical phenotype variability ...... ociated with CYP7B1 mutations.
@en
Clinical phenotype variability ...... ociated with CYP7B1 mutations.
@nl
P2093
P2860
P50
P1433
P1476
Clinical phenotype variability ...... sociated with CYP7B1 mutations
@en
P2093
C Crimella
E Tenderini
O Musumeci
P2860
P304
P356
10.1111/J.1399-0004.2011.01624.X
P50
P577
2011-01-31T00:00:00Z