NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
about
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyNEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.
P2860
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年學術文章
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2015年學術文章
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name
NEFL E396K mutation is associa ...... Marie-Tooth disease phenotype.
@en
NEFL E396K mutation is associa ...... Marie-Tooth disease phenotype.
@nl
type
label
NEFL E396K mutation is associa ...... Marie-Tooth disease phenotype.
@en
NEFL E396K mutation is associa ...... Marie-Tooth disease phenotype.
@nl
prefLabel
NEFL E396K mutation is associa ...... Marie-Tooth disease phenotype.
@en
NEFL E396K mutation is associa ...... Marie-Tooth disease phenotype.
@nl
P2093
P2860
P1433
P1476
NEFL E396K mutation is associa ...... Marie-Tooth disease phenotype.
@en
P2093
Albena Jordanova
Ana L Pelayo-Negro
Antonio García
Elena Gallardo
Els De Vriendt
Jon Infante
José Berciano
Kristien Peeters
P2860
P2888
P304
P356
10.1007/S00415-015-7709-4
P577
2015-04-01T00:00:00Z