Sural nerve biopsy and functional studies support the pathogenic role of a novelMPZmutation-Reference-Cited by-同舟云学术

Sural nerve biopsy and functional studies support the pathogenic role of a novelMPZmutation

Published:2014-11-11 Issue:3 Volume:35 Page:254-259
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Prada Valeria¹,Capponi Simona²,Ursino Giulia¹,Alberti Antonia¹,Callegari Ilaria¹,Passalacqua Mario³,Marotta Roberto⁴,Mandich Paola²,Bellone Emilia²,Schenone Angelo¹,Grandis Marina¹

Affiliation:

1. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health; Section of Neurology; University of Genova; Genova Italy

2. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health; Section of Medical Genetics; University of Genova; Genova Italy

3. Department of Experimental Medicine; Section of Biochemistry; University of Genova; Genova Italy

4. Nanochemistry Department; Istituto Italiano di Tecnologia (IIT); Electron Microscopy Facility; Genova Italy

Publisher

Wiley

Subject

Neurology (clinical),General Medicine,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/neup.12179/fullpdf

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4. Peripheral neuropathies: molecular diagnosis of Charcot-Marie-Tooth disease;Berciano;Nat Rev Neurol,2011

5. Charcot-Marie-Tooth disease subtypes and genetic testing strategies;Saporta;Ann Neurol,2011

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1. Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017;Frontiers in Neurology;2019-11-22

2. Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype;Journal of Neurology;2019-07-05