(Q34572864)

3 August 2017

title

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

1 reference

3 August 2017

Leonardo Salviati

1

1 reference

3 August 2017

Eva Trevisson

2

1 reference

3 August 2017

Maria Cristina Baldoin

3

1 reference

3 August 2017

Irene Toldo

4

1 reference

3 August 2017

Stefano Sartori

5

1 reference

3 August 2017

Milena Calderone

6

1 reference

3 August 2017

Romano Tenconi

7

1 reference

3 August 2017

AnnaMaria Laverda

8

1 reference

3 August 2017

publication date

10 October 2006

1 reference

3 August 2017

1 reference

3 August 2017

volume

8

1 reference

3 August 2017

issue

1

1 reference

3 August 2017

page(s)

57-60

1 reference

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

3 August 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-006-0065-X

Connexins are critical for normal myelination in the CNS.

21 January 2018

1 reference

12 December 2020

Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype

1 reference

12 December 2020

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

1 reference

12 December 2020

1 reference

12 December 2020

Nomenclature for the description of human sequence variations.

1 reference

12 December 2020

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurophysiological study in Pelizaeus-Merzbacher disease.

1 reference

12 December 2020

10.1007/S10048-006-0065-X

Identifiers

DOI

1 reference

release_bkgsxpxisrennflwqnhk6mmyxe

3 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bkgsxpxisrennflwqnhk6mmyxe

24 November 2022

mapped directly with Wikidata item

1 reference