Results 21 to 30 of about 9,571 (221)
Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis [PDF]
, 2017 Mutations in the co- chaperone protein, CSPα, cause an autosomal dominant, adult-neuronal ceroid lipofuscinosis (AD-ANCL). The current understanding of CSPα function exclusively at the synapse fails to explain the autophagy-lysosome pathway (ALP ...
Benitez, Bruno A, Sands, Mark S
core +2 more sources
MRI findings of neuronal ceroid lipofuscinosis in a cat
Journal of Feline Medicine and Surgery Open Reports, 2018 Case summary A 2-year-old male domestic shorthair cat presented to the University of Liverpool Small Animal Teaching Hospital with a 2 week history of altered mentation, blindness and focal epileptic seizures.
Crystal White +5 more
doaj +1 more source
The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, 2022 IntroductionNeuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders.
Daniel Rodrigues +10 more
doaj +1 more source
EEG in Late Infantile Neuronal Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 2001 The clinical and electroencephalographic findings in 18 cases (8 girls, 10 boys) with late infantile neuronal ceroid lipofuscinosis (NCL) are reported from the University of Genova, and University of Siena, Italy.
J Gordon Millichap
doaj +1 more source
Audiogenic reflex seizures in cats [PDF]
, 2015 This study aims at characterizing feline audiogenic reflex seizures (FARS). An online questionnaire was developed to capture information from owners with cats suffering FARS.
Bessant, C +4 more
core +2 more sources
Cardiac Involvement in Batten Disease
Pediatric Neurology Briefs, 2011 The onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease) are studied in 29 children and adolescents with genetically verified disease at Aarhus University Hospital, Skejby, Denmark.
J Gordon Millichap
doaj +1 more source
Epilepsy in Juvenile Neuronal Ceroid Lipofuscinosis
Pediatric Neurology Briefs, 2000 The clinical characteristics of epilepsy and optimal antiepileptic drug therapy were surveyed in 60 patients (mean age 16 years, range 5-33) with juvenile neuronal ceroid lipofuscinosis (JNCL), followed at the University of Helsinki, Finland.
J Gordon Millichap
doaj +1 more source
Phenotypes of Juvenile Batten Disease
Pediatric Neurology Briefs, 1999 The phenotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients were correlated with the genotypes in a study at Helsinki University, Finland; and the Rayne Institute, University College, London, UK.
J Gordon Millichap
doaj +1 more source
Neuronal Ceroid Lipofuscinosis (Batten's Disease) [PDF]
Archives of Disease in Childhood, 1972 Four patients are described, who on clinical, histological, and biochemical criteria are considered to be suffering from neuronal ceroid lipofuscinosis. It is suggested that this may be the commonest condition included under the term amaurotic family idiocy.
N S, Gordon, H B, Marsden, M J, Noronha
openaire +2 more sources
Brain imaging in Kufs disease type B. case reports [PDF]
, 2015 The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF.
COLONNESE, Claudio +4 more
core +2 more sources