Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses [PDF]
iScience, 2021 Summary: The neuronal ceroid lipofuscinoses (NCL) are a group of 13 rare neurodegenerative disorders characterized by accumulation of cellular storage bodies.
Katharina Iwan +8 more
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Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses [PDF]
Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 276-286, February 2026.This original article is commented on by Mole on pages 156–157 of this issue. Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death,
Alessandro Simonati +29 more
wiley +2 more sources
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses [PDF]
Frontiers in Neurology, 2021 The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults. They share some similar clinical features and the accumulation of autofluorescent storage material. Since the discovery of the
Emily Gardner, Sara E. Mole
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High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses [PDF]
JIMD Reports, 2019 Background Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the CLN ...
Abdulhakim Jilani +8 more
doaj +2 more sources
Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses [PDF]
Data in Brief, 2021 This article presents datasets associated with the research article entitled “Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease” (Murray et al., [1]). The neuronal ceroid lipofuscinoses (NCL;
Katharina N. Russell +4 more
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Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses [PDF]
Molecular Neurodegeneration, 2019 Neuronal Ceroid Lipofuscinoses (NCLs), commonly known as Batten disease, constitute a group of the most prevalent neurodegenerative lysosomal storage disorders (LSDs).
Anil B. Mukherjee +6 more
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Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin [PDF]
Cells, 2018 Despite the increased focus on the role of calcium in the neuronal ceroid lipofuscinoses (NCLs, also known as Batten disease), links between calcium signalling and the proteins associated with the disease remain to be identified.
Sabateeshan Mathavarajah +2 more
doaj +2 more sources
Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid Lipofuscinoses [PDF]
Frontiers in Neurology, 2022 While significant efforts have been made in developing pre-clinical treatments for the neuronal ceroid lipofuscinoses (NCLs), many challenges still remain to bring children with NCLs a cure.
Keigo Takahashi +5 more
doaj +2 more sources
Natural history of retinal degeneration in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses [PDF]
Scientific Reports, 2022 Neuronal ceroid lipofuscinoses (NCL; Batten disease) are a group of inherited neurodegenerative diseases with a common set of symptoms including cognitive and motor decline and vision loss.
S. J. Murray, N. L. Mitchell
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Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses [PDF]
Annals of Clinical and Translational Neurology, 2018 Objective Neuronal Ceroid Lipofuscinoses (NCL) are fatal inherited neurodegenerative diseases with established neuronal cell death and increased ceramide levels in brain, hence, a need for disease‐modifying drug candidates, with potential to enhance ...
Joelle Makoukji +7 more
doaj +2 more sources