Associated Papers
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Manisha KY et al.
Neurology. Genetics, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
Megalencephalic leukoencephalopathy with subcortical cysts: the importance of early diagnosis.
Bravo-Oro A et al.
Boletin Medico Del Hospital Infantil De Mexico, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.
Parayil Sankaran B et al.
Journal of Child Neurology, 2020
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A et al.
Frontiers in Genetics, 2020
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
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.
Ankala A et al.
Muscle & Nerve, 2013
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
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.
Huyghe A et al.
Plos One, 2012
Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.
Ridder MC et al.
Brain : a Journal of Neurology, 2011
Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy.
Shukla P et al.
Pediatric 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
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
Ilja Boor PK 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
Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA et al.
Human Genetics, 2002