Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy
about
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.Recent advances in the genetic neuropathies.A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.
P2860
Q33909546-9496271E-0935-4911-B1FB-69C69B81D0BBQ38644080-E51F0FE0-51B8-4CAB-A4C3-0CFFE4DACBC2Q38943757-AC3DAF8E-7759-4B19-8035-59AE2EC294B3Q47417595-5CD0247D-4C82-4DCE-8BCC-C5F6DF036EE8Q47713890-F1EBE136-F636-4BF4-9AD8-D921DB7B14FBQ50194442-19ADBA68-FEE4-492B-925C-CC56F415E120Q50439927-C376E046-39A6-4909-AA39-53DABDDB7988Q50980005-B0058E36-0685-4BA4-8764-D6488381F965
P2860
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy
description
2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
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im April 2016 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2016/04/07)
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vědecký článek publikovaný v roce 2016
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wetenschappelijk artikel (gepubliceerd op 2016/04/07)
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наукова стаття, опублікована у квітні 2016
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مقالة علمية (نشرت في 7-4-2016)
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name
Cryptic Amyloidogenic Elements ...... enes Trigger Axonal Neuropathy
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Cryptic Amyloidogenic Elements ...... enes Trigger Axonal Neuropathy
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Cryptic Amyloidogenic Elements ...... enes Trigger Axonal Neuropathy
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type
label
Cryptic Amyloidogenic Elements ...... enes Trigger Axonal Neuropathy
@ast
Cryptic Amyloidogenic Elements ...... enes Trigger Axonal Neuropathy
@en
Cryptic Amyloidogenic Elements ...... enes Trigger Axonal Neuropathy
@nl
prefLabel
Cryptic Amyloidogenic Elements ...... enes Trigger Axonal Neuropathy
@ast
Cryptic Amyloidogenic Elements ...... enes Trigger Axonal Neuropathy
@en
Cryptic Amyloidogenic Elements ...... enes Trigger Axonal Neuropathy
@nl
P2093
P2860
P50
P1476
Cryptic Amyloidogenic Elements ...... enes Trigger Axonal Neuropathy
@en
P2093
Adriana P. Rebelo
Alejandro Horga
Alexander J. Abrams
Avencia Sanchez-Mejias
Cathy Woodward
Dana M. Bis
Elena Buglo
Ellen Cottenie
Janice L. Holton
Jeffrey Prince
P2860
P304
P356
10.1016/J.AJHG.2016.02.022
P407
P577
2016-04-07T00:00:00Z