A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2-Reference-Cited by-同舟云学术

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A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2

Published:2014-01 Issue:1 Volume:533 Page:447-450
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Noetzli Leila,Sanz Pablo G.,Brodsky Gary L.,Hinckley Jesse D.,Giugni Juan C.,Giannaula Rolando J.,Gonzalez-Alegre Pedro,Di Paola Jorge

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference16 articles.

1. Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease;Cailloux;Eur. J. Hum. Genet.,2000

2. A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus–Merzbacher disease;Fukumura;Brain Dev.,2011

3. Pelizaeus–Merzbacher disease: genetic and cellular pathogenesis;Garbern;Cell. Mol. Life Sci.,2007

4. PLP1-related disorders;Garbern,1993

5. Toward therapy for DYT1 dystonia: allele-specific silencing of mutant TorsinA;Gonzalez-Alegre;Ann. Neurol.,2003

Cited by 8 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. Hereditary spastic paraplegia: Novel insights into the pathogenesis and management;SAGE Open Medicine;2023-12-29

2. PLP1 gene mutations cause spastic paraplegia type 2 in three families;Annals of Clinical and Translational Neurology;2023-01-09

3. Ocular findings and genomics of X-linked recessive disorders: A review;Indian Journal of Ophthalmology;2022

4. Molecular Genetic Diversity and DNA Diagnostics of Hereditary Spastic Paraplegia;Biology Bulletin Reviews;2019-03

5. Neurogenetics of Pelizaeus–Merzbacher disease;Neurogenetics, Part II;2018

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