Loss of function MPZ mutation causes milder CMT1B neuropathy-Reference-Cited by-同舟云学术

Loss of function MPZ mutation causes milder CMT1B neuropathy

Published:2021-05-15 Issue:2 Volume:26 Page:177-183
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Howard Paige¹^ORCID,Feely Shawna M. E.²,Grider Tiffany²,Bacha Alexa¹,Scarlato Marina³,Fazio Raffaella³,Quattrini Angelo³^ORCID,Shy Michael E.¹^ORCID,Previtali Stefano C.³

Affiliation:

1. Roy and Lucille Carver College of Medicine, University of Iowa Iowa City Iowa USA

2. University of Iowa Healthcare Neurology Iowa City Iowa USA

3. Institute of Experimental Neurology (InSpe) and Division of Neuroscience IRCCS Ospedale San Raffaele Milano Italy

Funder

Charcot-Marie-Tooth Association

Muscular Dystrophy Association

National Institute of Neurological Disorders and Stroke

Ministry of Health

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12452

Reference35 articles.

1. Genetic and clinical aspects of Charcot-Marie-Tooth's disease

2. Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

3. Charcot-marie-tooth disease subtypes and genetic testing strategies

4. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

5. Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in theMPZgene

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Current Treatment Methods for Charcot–Marie–Tooth Diseases;Biomolecules;2024-09-09

2. Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches;International Journal of Molecular Sciences;2024-08-26

3. Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy;Journal of Neurology, Neurosurgery & Psychiatry;2024-06-05

4. Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot–Marie–Tooth disease;Frontiers in Neurology;2024-02-28

5. Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy;International Journal of Molecular Sciences;2024-01-29