Megalencephalic leukoencephalopathy with subcortical cysts (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Megalencephalic leukoencephalopathy with subcortical cysts" in English language version.

refsWebsite

Global rank English rank

16nih.gov

4^th place

10doi.org

2^nd place

4semanticscholar.org

11^th place

8^th place

1omim.org

4,380^th place

4,305^th place

1medlineplus.gov

1,581^st place

1,299^th place

1hiv.gov

low place

doi.org

van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, et al. (March 1995). "Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children". Annals of Neurology. 37 (3): 324–334. doi:10.1002/ana.410370308. PMID 7695231. S2CID 29580717.
Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, et al. (June 2006). "Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1". Human Mutation. 27 (6): 505–512. doi:10.1002/humu.20332. PMID 16652334. S2CID 3174994.
Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, et al. (April 2001). "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts". American Journal of Human Genetics. 68 (4): 831–838. doi:10.1086/319519. PMC 1275636. PMID 11254442.
Lanciotti A, Brignone MS, Molinari P, Visentin S, De Nuccio C, Macchia G, et al. (May 2012). "Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations". Human Molecular Genetics. 21 (10): 2166–80. doi:10.1093/hmg/dds032. PMID 22328087.
López-Hernández T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernández-Dueñas V, Scheper GC, et al. (August 2011). "Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts". Human Molecular Genetics. 20 (16): 3266–77. doi:10.1093/hmg/ddr238. PMID 21624973.
Batla A, Pandey S, Nehru R (January 2011). "Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases". Journal of Pediatric Neurosciences. 6 (1): 74–77. doi:10.4103/1817-1745.84416. PMC 3173924. PMID 21977097.
Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E, Oztekin N, et al. (February 2000). "Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel". American Journal of Human Genetics. 66 (2): 733–739. doi:10.1086/302758. PMC 1288127. PMID 10677334.
Singhal BS, Gursahani RD, Udani VP, Biniwale AA (May 1996). "Megalencephalic leukodystrophy in an Asian Indian ethnic group". Pediatric Neurology. 14 (4): 291–296. doi:10.1016/0887-8994(96)00048-3. PMID 8805171.
van der Knaap MS, Wevers RA, Kure S, Gabreëls FJ, Verhoeven NM, van Raaij-Selten B, et al. (November 1999). "Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter". Journal of Child Neurology. 14 (11): 728–731. doi:10.1177/088307389901401108. PMID 10593550. S2CID 25535446.
van der Knaap MS, Boor I, Estévez R (November 2012). "Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis". The Lancet. Neurology. 11 (11): 973–985. doi:10.1016/S1474-4422(12)70192-8. PMID 23079554. S2CID 31690619.

hiv.gov

clinicalinfo.hiv.gov

"Vacuolar Myelopathy". Clinicalinfo.HIV.gov. U.S. National Institutes of Health. Retrieved 2022-03-24.

medlineplus.gov

"Megalencephalic leukoencephalopathy with subcortical cysts". MedlinePlus Genetics. U.S. National Library of Medicine. Retrieved 2022-03-24.

nih.gov

pubmed.ncbi.nlm.nih.gov

van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, et al. (March 1995). "Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children". Annals of Neurology. 37 (3): 324–334. doi:10.1002/ana.410370308. PMID 7695231. S2CID 29580717.
Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, et al. (June 2006). "Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1". Human Mutation. 27 (6): 505–512. doi:10.1002/humu.20332. PMID 16652334. S2CID 3174994.
Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, et al. (April 2001). "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts". American Journal of Human Genetics. 68 (4): 831–838. doi:10.1086/319519. PMC 1275636. PMID 11254442.
Lanciotti A, Brignone MS, Molinari P, Visentin S, De Nuccio C, Macchia G, et al. (May 2012). "Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations". Human Molecular Genetics. 21 (10): 2166–80. doi:10.1093/hmg/dds032. PMID 22328087.
López-Hernández T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernández-Dueñas V, Scheper GC, et al. (August 2011). "Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts". Human Molecular Genetics. 20 (16): 3266–77. doi:10.1093/hmg/ddr238. PMID 21624973.
Batla A, Pandey S, Nehru R (January 2011). "Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases". Journal of Pediatric Neurosciences. 6 (1): 74–77. doi:10.4103/1817-1745.84416. PMC 3173924. PMID 21977097.
Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E, Oztekin N, et al. (February 2000). "Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel". American Journal of Human Genetics. 66 (2): 733–739. doi:10.1086/302758. PMC 1288127. PMID 10677334.
Singhal BS, Gursahani RD, Udani VP, Biniwale AA (May 1996). "Megalencephalic leukodystrophy in an Asian Indian ethnic group". Pediatric Neurology. 14 (4): 291–296. doi:10.1016/0887-8994(96)00048-3. PMID 8805171.
van der Knaap MS, Wevers RA, Kure S, Gabreëls FJ, Verhoeven NM, van Raaij-Selten B, et al. (November 1999). "Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter". Journal of Child Neurology. 14 (11): 728–731. doi:10.1177/088307389901401108. PMID 10593550. S2CID 25535446.
van der Knaap MS, Boor I, Estévez R (November 2012). "Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis". The Lancet. Neurology. 11 (11): 973–985. doi:10.1016/S1474-4422(12)70192-8. PMID 23079554. S2CID 31690619.

ncbi.nlm.nih.gov

"MLC1 modulator of VRAC current 1 [Homo sapiens (human)] - Gene". National Center for Biotechnology Information (NCBI). U.S. National Library of Medicine. Retrieved 2022-03-17.
Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, et al. (April 2001). "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts". American Journal of Human Genetics. 68 (4): 831–838. doi:10.1086/319519. PMC 1275636. PMID 11254442.
Batla A, Pandey S, Nehru R (January 2011). "Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases". Journal of Pediatric Neurosciences. 6 (1): 74–77. doi:10.4103/1817-1745.84416. PMC 3173924. PMID 21977097.
Topçu M, Gartioux C, Ribierre F, Yalçinkaya C, Tokus E, Oztekin N, et al. (February 2000). "Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel". American Journal of Human Genetics. 66 (2): 733–739. doi:10.1086/302758. PMC 1288127. PMID 10677334.

ghr.nlm.nih.gov

"Megalencephalic leukoencephalopathy with subcortical cysts". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 2009-03-11.

rarediseases.info.nih.gov

"Megalencephalic leukoencephalopathy with subcortical cysts". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. U.S. National Institutes of Health. Retrieved 2022-03-24.

omim.org

"Megalencephalic leukoencephalopathy with subcortical cysts; MLC1". Online Mendelian Inheritance in Man (OMIM). Retrieved 2022-03-24.

semanticscholar.org

api.semanticscholar.org

van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, et al. (March 1995). "Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children". Annals of Neurology. 37 (3): 324–334. doi:10.1002/ana.410370308. PMID 7695231. S2CID 29580717.
Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, et al. (June 2006). "Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1". Human Mutation. 27 (6): 505–512. doi:10.1002/humu.20332. PMID 16652334. S2CID 3174994.
van der Knaap MS, Wevers RA, Kure S, Gabreëls FJ, Verhoeven NM, van Raaij-Selten B, et al. (November 1999). "Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter". Journal of Child Neurology. 14 (11): 728–731. doi:10.1177/088307389901401108. PMID 10593550. S2CID 25535446.
van der Knaap MS, Boor I, Estévez R (November 2012). "Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis". The Lancet. Neurology. 11 (11): 973–985. doi:10.1016/S1474-4422(12)70192-8. PMID 23079554. S2CID 31690619.