Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion-Reference-Cited by-同舟云学术

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Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion

Published:2012-11 Issue:10 Volume:34 Page:852-856
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Torisu Hiroyuki,Iwaki Akiko,Takeshita Kenzo,Hiwatashi Akio,Sanefuji Masafumi,Fukumaki Yasuyuki,Hara Toshiro

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference13 articles.

1. Assembly of CNS myelin in the absence of proteolipid protein;Klugmann;Neuron,1997

2. Proteolipid protein is required for transport of sirtuin 2 into CNS myelin;Werner;J Neurosci,2007

3. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus–Merzbacher disease;Raskind;Am J Hum Genet,1991

4. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females;Inoue;Am J Hum Genet,2002

5. Seventeen novel PLP1 mutations in patients with Pelizaeus–Merzbacher disease;Hübner;Hum Mutat,2005

Cited by 18 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. Knockdown of Rab9 Recovers Defective Morphological Differentiation Induced by Chemical ER Stress Inducer or PMD-Associated PLP1 Mutant Protein in FBD-102b Cells;Pathophysiology;2024-08-26

2. Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait;Human Genome Variation;2024-05-15

3. Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2;Annals of Clinical and Translational Neurology;2023-07-20

4. Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review;BMC Medical Genomics;2023-05-22

5. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome;Human Mutation;2019-11-14

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