(Q38088319)

28 August 2017

title

Pelizaeus-Merzbacher disease as a chromosomal disorder (English)

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Pelizaeus-Merzbacher disease

28 August 2017

main subject

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Toshiyuki Yamamoto

1

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28 August 2017

Keiko Shimojima

series ordinal

2

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28 August 2017

publication date

1 March 2013

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28 August 2017

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28 August 2017

volume

53

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28 August 2017

issue

1

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28 August 2017

page(s)

3-8

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Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene.

28 August 2017

cites work

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Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

21 January 2018

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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

21 January 2018

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Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis

21 January 2018

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Myelin proteolipid protein--the first 50 years

21 January 2018

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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

21 January 2018

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Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome

21 January 2018

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Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

21 January 2018

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Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X.

21 January 2018

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21 January 2018

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Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

21 January 2018

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A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease.

21 January 2018

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

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Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.

21 January 2018

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Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation.

21 January 2018

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Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins

21 January 2018

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Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

21 January 2018

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Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication

21 January 2018

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Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

21 January 2018

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Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.

21 January 2018

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

21 January 2018

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Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.

21 January 2018

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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

21 January 2018

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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

21 January 2018

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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGA.12005

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28 August 2017

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