Megalencephalic Leukoencephalopathy With Subcortical Cysts (Q30882681)

27 June 2017

1 reference

title

Megalencephalic leukoencephalopathy with subcortical cysts (English)

1 reference

27 June 2017

Megalencephalic Leukoencephalopathy With Subcortical Cysts (English)

1 reference

https://api.crossref.org/works/10.1177/08830738030180091201

megalencephalic leukoencephalopathy with subcortical cysts

24 March 2024

main subject

0 references

cyst

1 reference

based on heuristic

inferred from title

central nervous system cyst

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14572144

24 March 2024

author name string

Sakkubai Naidu

3

1 reference

27 June 2017

Bhim S. Singhal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14572144

24 March 2024

J. Rafael Gorospe

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14572144

24 March 2024

language of work or name

1 reference

1 September 2003

1 reference

full work available at URL

27 June 2017

http://journals.sagepub.com/doi/pdf/10.1177/08830738030180091201

1 reference

https://api.crossref.org/works/10.1177/08830738030180091201

Journal of Child Neurology

24 March 2024

published in

1 reference

27 June 2017

volume

18

1 reference

27 June 2017

issue

9

1 reference

27 June 2017

page(s)

646-652

1 reference

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

27 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Megalencephalic leukodystrophy in an Asian Indian ethnic group

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Cystic leukoencephalopathy in a megalencephalic child: clinical and magnetic resonance imaging/magnetic resonance spectroscopy findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Vacuolating leukoencephalopathy with subcortical cysts with late onset athetotic movements

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Alexander disease: a review and the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

GFAP mutations in Alexander disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Diagnosis and management of glutaric aciduria type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F08830738030180091201

[Van Der Knaap syndrome. Megalencephaly with leukodystrophy. Report of 2 cases in the same family]

21 January 2018

6

1 reference

https://api.crossref.org/works/10.1177/08830738030180091201

American Journal of Neuroradiology

24 March 2024

11

22

541

van der Knaap MS

2001

1 reference

https://api.crossref.org/works/10.1177/08830738030180091201

24 March 2024

Frontiers in bioscience

18

5

307

Matalon RM

2000

1 reference

https://api.crossref.org/works/10.1177/08830738030180091201

24 March 2024

Identifiers

0 references

1 reference