(Q34565760)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

1 reference

based on heuristic

inferred from title

object named as

Nicole I Wolf

1

0 references

Maria Bitner-Glindzicz

10

object named as

Maria Bitner-Glindzicz

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

3

object named as

Paul Rutland

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

author name string

Maria Cundall

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Elisabeth Rosser

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Robert Surtees

5

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Sarah Benton

6

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Wui K Chong

7

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Sue Malcolm

8

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Friedrich Ebinger

9

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Karen J Woodward

11

1 reference

Europe PubMed Central

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3 August 2017

publication date

13 September 2006

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Europe PubMed Central

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3 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

8

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Europe PubMed Central

PubMed publication ID

3 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

39-44

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-006-0062-0

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A PLP splicing abnormality is associated with an unusual presentation of PMD.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An MRI and MRS study of Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16969684

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-006-0062-0

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

ResearchGate publication ID

0 references

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