Associated Papers
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.
Noureldeen MM et al.
Italian Journal of Pediatrics, 2025
Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.
Moyal M et al.
European Psychiatry : the Journal of the Association of European Psychiatrists, 2025
Psychotic attack during the clinical course of megalencephalic leukoencephalopathy with subcortical cysts: a case report.
Avşar PA et al.
European Child & Adolescent Psychiatry, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
Ain Ul Batool S et al.
American Journal of Medical Genetics. Part A, 2022
Megalencephalic leukoencephalopathy with subcortical cysts: the importance of early diagnosis.
Bravo-Oro A et al.
Boletin Medico Del Hospital Infantil De Mexico, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
Choi SA et al.
Annals of Laboratory Medicine, 2017
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
Abdel-Salam GM et al.
Metabolic Brain Disease, 2016
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.
Cao B et al.
Plos One, 2016
Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in MLC1, in patients with and without subcortical cysts in the brain.
Masuda T et al.
Journal of the Neurological Sciences, 2015
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts.
Kariminejad A et al.
European Journal of Medical Genetics, 2015
MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts.
Shimada S et al.
Human Genome Variation, 2014
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
A Japanese adult case of megalencephalic leukoencephalopathy with subcortical cysts with a good long-term prognosis.
Koyama S et al.
Internal Medicine (tokyo, Japan), 2012
Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.
Ridder MC et al.
Brain : a Journal of Neurology, 2011
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
Wang J et al.
Journal of Human Genetics, 2011
[Effects on astrocytic function from MLC1 gene mutation with megalencephalic leukoencephalopathy with subcortical cysts].
Wang JM et al.
Sheng Li Ke Xue Jin Zhan [progress in Physiology], 2010
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
Duarri A et al.
Human Molecular Genetics, 2008
MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease.
Morita H et al.
Brain & Development, 2006
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
Ilja Boor PK et al.
Human Mutation, 2006
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.
Montagna G et al.
Human Mutation, 2006
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.
Gorospe JR et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
An adult case of megalencephalic leukoencephalopathy with subcortical cysts with S93L mutation in MLC1 gene: a case report and diffusion MRI.
Itoh N et al.
European Neurology, 2006
A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study.
Saijo H et al.
Brain & Development, 2003
A common mutation and a novel mutation in Japanese patients with van der Knaap disease.
Tsujino S et al.
Journal of Human Genetics, 2003
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA et al.
American Journal of Human Genetics, 2001
Megaencephalic leukoencephalopathy with subcortical cysts in a young Bengali girl.
Bhattacharyya KB et al.
Neurology India, 0