Small heat shock protein B3 (HSPB3 ) mutation in an axonal Charcot-Marie-Tooth disease family
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Title
Small heat shock protein B3 (HSPB3
) mutation in an axonal Charcot-Marie-Tooth disease family
Authors
Keywords
-
Journal
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
Volume 23, Issue 1, Pages 60-66
Publisher
Wiley
Online
2018-01-17
DOI
10.1111/jns.12249
References
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Related references
Note: Only part of the references are listed.- Wide phenotypic spectrum in axonal Charcot–Marie–Tooth neuropathy type 2 patients with KIF5A mutations
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- (2016) Wei Wang et al. NEUROLOGY
- Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
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- The I-TASSER Suite: protein structure and function prediction
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- Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1
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- Clinical implications of genetic advances in Charcot–Marie–Tooth disease
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- (2012) Abhishek Asthana et al. CELL BIOCHEMISTRY AND BIOPHYSICS
- Small heat shock proteins HSP27 (HspB1), αB-crystallin (HspB5) and HSP22 (HspB8) as regulators of cell death
- (2012) Julie Acunzo et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- Small heat shock proteins and the cytoskeleton: An essential interplay for cell integrity?
- (2012) G. Wettstein et al. INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
- A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation
- (2011) Sergiu C. Blumen et al. ANNALS OF NEUROLOGY
- Large Potentials of Small Heat Shock Proteins
- (2011) Evgeny V. Mymrikov et al. PHYSIOLOGICAL REVIEWS
- Small heat shock proteins and α-crystallins: dynamic proteins with flexible functions
- (2011) Eman Basha et al. TRENDS IN BIOCHEMICAL SCIENCES
- Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach
- (2010) S. J. Kolb et al. NEUROLOGY
- Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2
- (2008) H. Houlden et al. NEUROLOGY
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