Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations-Reference-Cited by-同舟云学术

Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

Published:2021-05 Issue:5 Volume:8 Page:1158-1164
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Abati Elena¹^ORCID,Magri Stefania²,Meneri Megi³,Manenti Giulia¹,Velardo Daniele³^ORCID,Balistreri Francesca²,Pisciotta Chiara⁴,Saveri Paola⁴,Bresolin Nereo¹³,Comi Giacomo Pietro¹³^ORCID,Ronchi Dario¹^ORCID,Pareyson Davide⁴^ORCID,Taroni Franco²,Corti Stefania¹³

Affiliation:

1. Department of Pathophysiology and Transplantation (DEPT) Dino Ferrari Centre, Neuroscience Section University of Milan Milan Italy

2. Unit of Medical Genetics and Neurogenetics Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

3. Neurology Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

4. Rare Neurodegenerative and Neurometabolic Diseases Unit Department of Clinical Neurosciences Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51364

Reference40 articles.

1. Charcot–Marie–Tooth disease and related disorders: an evolving landscape

2. Small heat shock proteins: molecular structure and chaperone function

3. Intermediate filament interactions can be altered by HSP27 and alphaB-crystallin

4. Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot–Marie–Tooth disease-linked mutations in NFL and HSPB1

5. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

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