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Publications by Sumitra Chakraverty

Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

Multidisciplinary

English

Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

Multidisciplinary

English

Related publications

Infantile Neuronal Ceroid Lipofuscinosis

English

Ovine Neuronal Ceroid Lipofuscinosis: A Large Animal Model Syntenic With the Human Neuronal Ceroid Lipofuscinosis Variant CLN6.

Journal of Medical Genetics

English

Multifocal Retinopathy in Dachshunds With CLN2 Neuronal Ceroid Lipofuscinosis

Experimental Eye Research

Molecular Neuroscience

Sensory Systems

English

Neuronal Ceroid Lipofuscinosis Type 2: An Australian Case Series

Journal of Paediatrics and Child Health

English

Current Therapies for the Soluble Lysosomal Forms of Neuronal Ceroid Lipofuscinosis

Biochemical Society Transactions

English

Proteolytic Processing of the Neuronal Ceroid Lipofuscinosis Related Lysosomal Protein CLN5

Experimental Cell Research

English

Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis

Multidisciplinary

English

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

American Journal of Human Genetics

English

Dissimilar Neuropsychiatric Presentations of Two Siblings With Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)

Journal of Neuropsychiatry and Clinical Neurosciences

English