Results 51 to 60 of about 1,285 (177)
Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses
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
doaj +1 more source
Developmental Neurobiology, 2023 AbstractSheep with naturally occurring CLN5 and CLN6 forms of neuronal ceroid lipofuscinoses (Batten disease) share the key clinical features of the human disease and represent an ideal model system in which the clinical efficacy of gene therapies is developed and test.
Nadia L. Mitchell +4 more
openaire +3 more sources
Frontiers in Neurology, 2022 The neuronal ceroid lipofuscinoses (NCLs) are a group of childhood-onset neurodegenerative lysosomal storage disorders mainly affecting the brain and the retina.
Udo Bartsch, Stephan Storch
doaj +1 more source
A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis [PDF]
BioMed Research International, 2010 The childhood neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases that are progressive and ultimately fatal. An Australian Shepherd that exhibited a progressive neurological disorder with signs similar to human NCL was evaluated.
Katz, Martin L. +6 more
openaire +2 more sources
Epilepsy & Behavior Reports, 2020 The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic
Jamie Talbot +4 more
doaj +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Investigation of the Batten Disease protein CLN6. [PDF]
, 2006 The neuronal ceroid lipofuscinoses (NCLs, Batten Disease) are a group of lysosomal storage disorders caused by mutations in known and unknown proteins with different cellular locations.
Martin, Y.
core
Deciphering Freezing of Gait: What Neuropathology Reveals About an Episodic Phenomenon
European Journal of Neuroscience, Volume 63, Issue 12, June 2026.Freezing of gait (FoG) occurs across Parkinson's disease, multiple neurodegenerative conditions and non‐neurodegenerative disorders. This review synthesizes the structural, neurochemical and proteinopathic substrates underlying FoG, showing how cumulative damage to distributed locomotor circuits—compounded by overlapping pathologies—progressively ...
Gabor G. Kovacs
wiley +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses
Frontiers in Neurology, 2022 Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of neurodegenerative diseases, characterized by progressive cerebral atrophy due to lysosomal storage disorder. Common clinical features include epileptic seizures, progressive cognitive and
Marina Trivisano +7 more
doaj +1 more source