Associated Papers
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Sheth H et al.
Human Genomics, 2024
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
A case of juvenile CLN1- challenge in diagnosis and epilepsy treatment.
Kravljanac R et al.
Neurocase, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
Sheth J et al.
Bmc Neurology, 2018
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.
Mathavarajah S et al.
Cells, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.
Pezzini F et al.
Frontiers in Molecular Neuroscience, 2017
Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.
Pérez Poyato MS et al.
Gene, 2012
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
Structural basis of neuronal ceroid lipofuscinosis 1.
Ohno K et al.
Brain & Development, 2010
Analysis of NCL Proteins from an Evolutionary Standpoint.
Muzaffar NE et al.
Current Genomics, 2008
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.
Lyly A et al.
Bmc Cell Biology, 2007
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE et al.
Neurogenetics, 2005
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
Teixeira C et al.
Journal of Neurology, 2003
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
Das AK et al.
Human Molecular Genetics, 2001
Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood.
Zhang Z et al.
Nature Medicine, 2001
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
Waliany S et al.
Human Mutation, 2000
Neuronal ceroid lipofuscinoses: research update.
Wisniewski KE et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2000
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation, 1999
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
Das AK et al.
The Journal of Clinical Investigation, 1998
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease).
Weleber RG et al.
Molecular Genetics and Metabolism, 0
Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae.
Aby E et al.
Fly, 0