Early onset demyelinating Charcot‐Marie‐Tooth disease caused by a novel in‐frame isoleucine deletion in peripheral myelin protein 2-Reference-Cited by-同舟云学术

Early onset demyelinating Charcot‐Marie‐Tooth disease caused by a novel in‐frame isoleucine deletion in peripheral myelin protein 2

Published:2020-05-04 Issue:2 Volume:25 Page:102-106
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Geroldi Alessandro¹^ORCID,Prada Valeria²^ORCID,Veneri Francesca²,Trevisan Lucia¹³,Origone Paola¹³,Grandis Marina²⁴,Schenone Angelo²⁴,Gemelli Chiara²,Lanteri Paola⁵,Fossa Paola⁶,Mandich Paola¹³,Bellone Emilia¹³

Affiliation:

1. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health—Medical GeneticsUniversity of Genoa Genoa Italy

2. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health—NeurologyUniversity of Genoa Genoa Italy

3. IRCCS Ospedale Policlinico San Martino—UOC Genetica Medica Genoa Italy

4. IRCCS‐Ospedale Policlinico San Martino—UOC Neurologia Genoa Italy

5. IRCCS Giannina Gaslini—U.O. Neuropsichiatria Infantile Genoa Italy

6. Department of Pharmacy, School of Medical and Pharmaceutical SciencesUniversity of Genoa Genoa Italy

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12375

Reference17 articles.

1. Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models

2. Myelin synthesis in the peripheral nervous system

3. Quantitative and Integrative Proteome Analysis of Peripheral Nerve Myelin Identifies Novel Myelin Proteins and Candidate Neuropathy Loci

4. PROTEIN COMPOSITION OF MYELIN OF THE PERIPHERAL NERVOUS SYSTEM

5. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

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