Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
about
Familial segmental spinal myoclonus: a rare clinical feature of Friedreich's ataxiaThe alteration of the C-terminal region of human frataxin distorts its structural dynamics and function.Friedreich ataxia in Norway - an epidemiological, molecular and clinical studyFrataxin levels in peripheral tissue in Friedreich ataxia.Analyzing the Effects of a G137V Mutation in the FXN Gene.Clinical features of Friedreich's ataxia: classical and atypical phenotypes.Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region.Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.A helix-coil transition induced by the metal ion interaction with a grafted iron-binding site of the CyaY protein family.Peripheral markers of autophagy in polyglutamine diseases.Emotion Recognition and Psychological Comorbidity in Friedreich's Ataxia.Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia.Molecular Diagnosis of Friedreich Ataxia Using Analysis of GAA Repeats andFXNGene Exons in Population from Western India
P2860
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P2860
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
@en
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
@nl
type
label
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
@en
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
@nl
prefLabel
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
@en
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
@nl
P2093
P2860
P50
P1433
P1476
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene
@en
P2093
Alessandra Tessa
Alessandro Filla
Angela Marsili
Antonella Antenora
Giorgia Puorro
Giuseppe De Michele
Pasquale Scoppettuolo
P2860
P2888
P304
P356
10.1007/S00415-012-6770-5
P577
2012-11-30T00:00:00Z