(Q48872003)

16 February 2018

title

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. (English)

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16 February 2018

author

Neil V Morgan

3

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16 February 2018

Richard C Trembath

11

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16 February 2018

author name string

E Meyer

1

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16 February 2018

M A Kurian

2

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16 February 2018

A McNeill

4

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16 February 2018

S Pasha

5

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16 February 2018

L Tee

6

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16 February 2018

R Younis

7

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16 February 2018

A Norman

8

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16 February 2018

M S van der Knaap

9

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16 February 2018

E Wassmer

10

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16 February 2018

L Brueton

12

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16 February 2018

E R Maher

13

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16 February 2018

publication date

8 September 2011

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16 February 2018

Molecular Genetics and Metabolism

published in

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16 February 2018

volume

104

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16 February 2018

issue

4

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16 February 2018

page(s)

637-643

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16 February 2018

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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.032

Individual exons encode the integral membrane domains of human myelin proteolipid protein

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Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.032

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

7 January 2021

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Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

7 January 2021

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Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

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Gap junctions and the connexin protein family

7 January 2021

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Connexin-caused genetic diseases and corresponding mouse models.

7 January 2021

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Gap junctions in inherited human disease

7 January 2021

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Connexins are critical for normal myelination in the CNS.

7 January 2021

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Gap junction protein 12: "connexing" the pieces in the puzzle of myelination and leukodystrophy

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GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

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Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

7 January 2021

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A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

7 January 2021

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Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease

7 January 2021

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Gap junctions couple astrocytes and oligodendrocytes

7 January 2021

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GJC2 missense mutations cause human lymphedema

7 January 2021

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Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

7 January 2021

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Expression of connexin47 in oligodendrocytes is regulated by the Sox10 transcription factor

7 January 2021

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Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

7 January 2021

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Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction

7 January 2021

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Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.08.032

Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease

7 January 2021

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10.1016/J.YMGME.2011.08.032

7 January 2021

Identifiers

DOI

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16 February 2018

PubMed ID

21959080

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16 February 2018