(Q48535448)

English

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide

scientific article published on 3 May 2012

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

megalencephalic leukoencephalopathy with subcortical cysts

0 references

1 reference

based on heuristic

inferred from title

Cecilia Mancini

1

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

5

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

10

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

object named as

Chiara Aiello

6

0 references

author name string

Giovanna Vaula

2

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

Laura Scalzitti

3

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

Simona Cavalieri

4

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

Cinzia Lucchini

7

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

Richard A Gatti

8

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

Alessandro Brussino

9

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

publication date

3 May 2012

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

13

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

3

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

205-214

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

https://scigraph.springernature.com/pub.10.1007/s10048-012-0331-z

0 references

Leukodystrophies: classification, diagnosis, and treatment

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Expression patterns of MLC1 protein in the central and peripheral nervous systems.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

The clinical features of takotsubo cardiomyopathy

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Deep intronic variations may cause mild hemophilia A.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

New insights in gene-derived therapy: the example of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Acute fright induces onset of symptoms in vanishing white matter disease-case report

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Fright is a provoking factor in vanishing white matter disease.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

1 reference

https://api.crossref.org/works/10.1007%2FS10048-012-0331-Z

21 January 2018

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

1 reference

https://pubmed.ncbi.nlm.nih.gov/22552818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

1 reference

https://pubmed.ncbi.nlm.nih.gov/22552818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22552818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-012-0331-Z

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 February 2018

http://europepmc.org/abstract/MED/22552818

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q48535448&oldid=2201395312"