Results 41 to 50 of about 795 (128)
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Eriko Nishi +9 more
wiley +1 more source
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
Orphanet Journal of Rare Diseases, 2013 Background To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations.
Santorelli Filippo Maria +13 more
doaj +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel +10 more
wiley +1 more source
Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder +4 more
wiley +1 more source
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses
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 +1 more source
Discovery platforms for RNA therapeutics
British Journal of Pharmacology, Volume 182, Issue 2, Page 281-295, January 2025.RNA therapeutics are emerging as a unique opportunity to drug currently “undruggable” molecules and diseases. While their advantages over conventional, small molecule drugs, their therapeutic implications and the tools for their effective in vivo delivery have been extensively reviewed, little attention has been so far paid to the technological ...
Giulio Ciucci +2 more
wiley +1 more source
Animal Genetics, Volume 55, Issue 4, Page 588-598, August 2024.Abstract Neuronal ceroid lipofuscinoses (NCL) are among the most prevalent neurodegenerative disorders of early life in humans. Disease‐causing variants have been described for 13 different NCL genes. In this study, a refined pathological characterization of a female rabbit with progressive neurological signs reminiscent of NCL was performed ...
Matthias Christen +7 more
wiley +1 more source
Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6
Animal Genetics, Volume 55, Issue 4, Page 612-620, August 2024.Abstract Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative disorders that occur in humans, dogs, and several other species. NCL is characterised clinically by progressive deterioration of cognitive and motor function, epileptic seizures, and visual impairment.
Kim K. L. Bellamy +4 more
wiley +1 more source
Mechanisms regulating the intracellular trafficking and release of CLN5 and CTSD
Traffic, Volume 25, Issue 1, January 2024.Working model showing the pathways and cellular components regulating the release of ceroid lipofuscinosis neuronal 5 (Cln5) and cathepsin D (CtsD) from cells. Cln5 and CtsD are synthesized and glycosylated (N) in the endoplasmic reticulum. Both proteins contain a functional signal peptide for secretion (SP) that facilitates their release from cells ...
Robert J. Huber +2 more
wiley +1 more source
Human Mutation, Volume 2024, Issue 1, 2024.Retinitis pigmentosa (RP) is a group of inherited degenerative retinal disorders affecting more than 1.5 million people worldwide. For 30‐50% of individuals with RP, the genetic cause remains unresolved by current clinical diagnostic gene panels. It is likely explained by variants in novel RP‐associated genes or noncoding regulatory regions, or by ...
Michael P. Backlund +10 more
wiley +1 more source